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Suggested Readings
Chapter 1
Articles on ethical issues in genetics are preceded by an asterisk.
*American Society of Human Genetics Board of Directors and the American College of
Medical Genetics Board of Directors. 1995. Points to consider: ethical, legal, and
psychosocial implications of genetic testing in children. American Journal of Human
Genetics 57:12331241.
An official statement by two groups of professional geneticists on some of the ethical,
legal, and psychological considerations in conducting genetic tests on children.
Dunn, L. C. 1965. A Short History of Genetics. New York: McGraw-Hill.
An excellent history of major developments in the field of genetics.
Evenson, R. E., and D. Gollin. 2003. Assessing the impact of the Green Revolution,
19602000. Science 300:758762.
Summarizes the effects of the Green Revolution on the improvement of crop
productivity in developing countries.
Hedrick, P. W. 2003. Hopi Indians, cultural selection, and albinism. American Journal
of Physical Anthropology 121:151156.
A good discussion of the genetics and evolution of albinism in the Hopi Native
Americans of the American Southwest.
LAMASON, R. L., M. P.K. MOHIDEEN, J. R. MEST, ET AL. 2005. SLC24A5, a
putative cation exchanger, affects pigmentation in zebrafish and humans. SCIENCE
310:17821786.
A research report on the identification of a gene that affects pigmentation in humans.
Lander, E. S., and R. A. Weinberg. 2000. Genomics: journey to the center of biology.
Science 287:17771782.
A succinct history of genetics and, more specifically, genomics written by two of the
leaders of modern genetics.
Myocardial Infarction Genetics Consortium. 2009. Genome-wide association of earlyonset myocardial infarction with single nucleotide polymorphisms and copy number
variants. Nature Genetics 41:334341.

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A study of single-nucleotide polymorphisms revealing the presence of several genes
that influence a predisposition to heart attacks. See other articles in the same issue of
Nature Genetics.
*Nowlan, W. 2002. A rational view of insurance and genetic discrimination. Science
297:195.
A discussion of the use of genetic information for insurance purposes from the
perspective of the insurance industry. An article by K.H. Rothenberg and S. F. Terry
in this issue of Science presents an alternative view.
OBRIEN, S. J., AND W. E. JOHNSON. 2007. THE EVOLUTION OF CATS.
SCIENTIFIC AMERICAN 297(1):6875.
POPULAR ARTICLE ON HOW ANALYSIS OF DNA SEQUENCES HAS
REVOLUTIONIZED OUR UNDERSTANDING OF CATS.
Rosenberg, K., B. Fuller, M. Rothstein, et al. 1997. Genetic information and workplace:
legislative approaches and policy challenges. Science 275:17551757.
Deals with the use of genetic information in employment.
*Shapiro, H. T. 1997. Ethical and policy issues of human cloning. Science 277:195196.
A discussion of the ethics of human cloning.
Stubbe, H. 1972. History of Genetics: From Prehistoric Times to the Rediscovery of
Mendels Laws. Translated by T. R. W. Waters. Cambridge, Mass.: MIT Press.
A good history of genetics, especially of pre-Mendelian genetics.
Sturtevant, A. H. 1965. A History of Genetics. New York: Harper & Row.
An excellent history of genetics.
Witkop, C. J., Jr., J. D. Niswander, D. R. Bergsma, et al. 2005. Tyrosinase positive
oculocutaneous albinism among Zuni and the Brandywine triracial isolate:
biochemical and clinical characteristics and fertility. American Journal of Physical
Anthropology 36:397405.
A biochemical analysis of albinism in the Zuni Native Americans.
Woolf, C. M., and F. C. Dukepoo. 1969. Hopi Indians, inbreeding, and albinism. Science
164:3037.
A report on the incidence of albinism in the Hopi Native Americans and possible
reasons for its high frequency.

Yi, Z., N. Garrison, O. Cohen-Barak, et al. 2003. 122.5-kilobase deletion of the P gene
underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo
population. American Journal of Human Genetics 72(1):6272.
Genetic characterization of albinism in the Navaho Native Americans of the
Southwest.
Chapter 2
Bouck, D. C., A. P. Joglekar, and K. S. Bloom. 2008. Design features of a mitotic spindle:
balancing tension and compression at a single microtubule kinetochore interface in
budding yeast. Annual Review of Genetics 42:335359.
A comprehensive review of the molecular basis of chromosome separation.
Glotzer, M. 2005. The molecular requirements for cytokinesis. Science 307:17351739.
A review of the molecular events in animal cytokinesis.
Jarrell, K. F., D. P. Bayley, J. D. Correia, and N. A. Thomas. 1999. Recent excitement
about archaea. Bioscience 49:530541.
An excellent review of differences among eubacteria, archaea, and eukaryotes.
King, R. W., P. K. Jackson, and M. W. Kirschner. 1994. Mitosis in transition. Cell
79:563571.
A good review of how the cell cycle is controlled.
Kitajima, T. S., S. A. Kawashima, and Y. Watanabe. 2004. The conserved kinetochore
protein shugoshin protects centromeric cohesion during meiosis. Nature 427:510
517.
Reports that shugoshin protects centromeric cohesin during anaphase I of meiosis.
Koshland, D. 1994. Mitosis: back to basics. Cell 77:951954.
A review of research on mitosis and chromosome movement.
Kotwaliwale, C., and S. Buggins. 2006. Microtuble capture: a concerted effort. Cell
127:11051108.
A short review of kinetochore proteins and their participation in attachment to spindle
fibers.

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Mogilner, A., R. Wollman, G. Civelekogul-Scholey, and J. Scholey. 2006. Modeling
mitosis. Trends in Cell Biology 16:8896.
A review of the different parts of the protein machine that brings about the
segregation of sister chromatids in mitosis.
Nasmyth, K. 2002. Segregating sister genomes: the molecular biology of chromosome
separation. Science 297:559565.
A very good and readable review of advances in our understanding of the molecular
biology of sister-chromatid and homologous-chromosome separation in mitosis and
meiosis.
Page, S. L., and R. S Hawley. 2003. Chromosome choreography: the meiotic ballet.
Science 301:785789.
An excellent review of the molecular biology of key events in mitosis and meiosis.
See other articles in this issue of Science on bacterial chromosome replication and
separation, prokaryotic chromosomes and disease, and eukaryotic chromosome
evolution.
Pluta, A. F., A. M. MacKay, A. M. Ainsztein, et al. 1995. Centromere: the hub of
chromosome activities. Science 270:15911594.
An excellent review of centromere structure and function.
Uhlmann, F., F. Lottespeich, and K. Nasmyth. 1999. Sister chromatid separation at
anaphase onset is promoted by cleavage of the cohesion subunit Scc1. Nature
400:3742.
Reports that cleavage of cohesion protein has a role in chromatid separation.
Zickler, D., and N. Kleckner. 1999. Meiotic chromosomes: integrating structure and
function. Annual Review of Genetics 33:603754.
A review of chromosomes in meiosis, their structure and function.
Chapter 3
Bennett, R. L., K. A. Steinhaus, S. B. Uhrich, et al. 1995. Recommendations for
standardized human pedigree nomenclature. American Journal of Human Genetics
56:745752.
Contains recommendations for standardized symbols used in pedigree construction.

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Corcos, A., and F. Monaghan. 1985. Some myths about Mendels experiments. The
American Biology Teacher 47:233236.
An excellent discussion of some misconceptions about Mendels life and discoveries.
Davenport, C. C., and C. B. Davenport. 1909. Heredity of hair color in man. American
Naturalist 43:193211.
Describes one of the first attempts to study the inheritance of red hair color.
Dunn, L. C. 1965. A Short History of Genetics. New York: McGraw-Hill.
An older but very good history of genetics.
Hartle, D. L., and D. J. Fairbanks. 2007. Mud sticks: on alleged falsification of Mendels
data. Genetics 175:975979.
Hartle and Fairbanks consider the idea that Mendel fudged his data and conclude that
the results provide no evidence for the accusation.
Henig, R. M. 2001. The Monk in the Garden: The Lost and Found Genius of Gregor
Mendel, the Father of Genetics. Boston: Houghton Mifflin.
A biography of Gregor Mendel, in which the author has used historical research to
create a vivid portrait of Mendels life and work.
Klein, J. 2000. Johann Mendels field of dreams. Genetics 156:16.
An account of Mendels childhood home and schools.
Lalueza-Fox, C. 2007. A melanocortin 1 receptor allele suggests varying pigmentation
among Neanderthals. Science 318:14531455.
Reports on research showing that the Neanderthals carried a gene for red hair.
Lewis, R. 1994. The evolution of a classical genetic tool. Bioscience 44:722726.
A well-written review of the history of pedigree analysis and changes in symbols that
have been necessitated by changing lifestyles and the development of reproductive
technologies.
Monaghan, F. V., and A. F. Corcos. 1987. Reexamination of the fate of Mendels paper.
Journal of Heredity 78:116118.
A good discussion of why Mendels paper was not recognized by his peers.

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Neal, J. 1943. Concerning the inheritance of red hair. Journal of Heredity 34:9396.
An early discussion about the inheritance of red hair.
Orel, V. 1984. Mendel. Oxford: Oxford University Press.
An excellent and authoritative biography of Mendel.
Rees, J. L. 2003. Genetics of hair and skin color. Annual Review of Genetics 37:6790.
An excellent review of the molecular genetics of hair and skin color.
Weiling, F. 1991. Historical study: Johann Gregor Mendel 18221884. American Journal
of Medical Genetics 40:125.
A fascinating account that contains much research on Mendels life as a scientist.
Chapter 4
Allen, G. E. 1978. Thomas Hunt Morgan: The Man and His Science. Princeton, N. J.:
Princeton University Press.
An excellent history of one of the most important biologists of the early twentieth
century.
Bartolomei, M. S., and S. M. Tilghman. 1997. Genomic imprinting in mammals. Annual
Review of Genetics 31:493526.
An extensive review of mammalian genes that exhibit genomic imprinting, with
information about common features of imprinted genes, the role of methylation in
imprinting, and the evolution of genomic imprinting.
Bogan, J. S., and D. C. Page. 1994. Ovary? Testis? A mammalian dilemma. Cell 76:603
607.
A concise review of the molecular nature of sex determination in mammals.
Bridges, C. B. 1916. Nondisjunction as proof of the chromosome theory of heredity.
Genetics 1:152.
One of Bridgess original papers describing his use of the nondisjunction of X
chromosomes to prove the chromosome theory of heredity.
Constancia, M., M. Hemberger, J. Hughes, et al. 2002. Placental-specific IGF-II is a
major modulator of placental and fetal growth. Nature 417:945948.

Reports that the Igf2 gene, which exhibits genomic imprinting, causes maternal
nutrients to be shunted to the fetus.
Dillon, R. T., and A. R. Wethington. 1992. The inheritance of albinism in a freshwater
snail, Physa heterostropha. Journal of Heredity 83:208210.
An article showing that albinism in the freshwater snail Physa heterostropha is due to
duplicate recessive epistasis.
Erickson, James, W. and J. J. Quintero. 2007. Indirect effects of ploidy suggest X
chromosome dose, not X:A ratio signals sex in Drosophila. Plos Biology 5:32,
doi:10.1371/journal.pbio.0050332
Research demonstrating that the X: A ratio does not directly determine sex in
Drosophila.
Foster, E. A., M. A. Jobling, P. G. Taylor, et al. 1998. Jefferson fathered slaves last child.
Nature 396:2728.
Reports on the use of Y-linked markers to establish the paternity of children of Sally
Hemings, Thomas Jeffersons slave.
Gibbs, W. W. 2003. The unseen genome: beyond DNA. Scientific American 289(6):106
113.
A readable account of epigenetic processes that affect heredity.
Grutzner, F., W. R. Rens, E. Tsend-Ayush, et al. 2004. In the platypus a meiotic chain of
ten sex chromosomes shares genes with the bird Z and mammal X chromosomes.
Nature 432:913917.
Reports an unusual mode of sex determination in the platypus.
Idnurm, A., F. J. Watson, A. Floyd, and J. Heitman. 2008. Identification of the sex genes
in an early diverged fungus. Nature 451:193196.
A research report on genes that determine sex in fungi that have genic sex
determination.
Kaneda, M., M. Okano, K. Hata, et al. 2004. Essential role for de novo DNA
methyltransferase Dnmt3a in paternal and maternal imprinting. Nature 429:900903.
Reports on research demonstrating the requirement of DNA methylation for
imprinting in mice.

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Kohler, R. E. 1994. Lords of the Fly: Drosophila Genetics and the Experimental Life.
Chicago: University of Chicago Press.
A comprehensive history of Drosophila genetics from 1910 to the early 1940s.
Kucharski, R., J. Maleszka, S. Foret, and R. Maleszka. 2008. Nutritional control of
reproductive status in honeybees via DNA methylation. Science 319:18271830.
Reports on research showing that the differences between queens and workers in
honeybees is controlled by differential DNA methylation.
Li, E., C. Beard, and R. Jaenisch. 1993. Role for DNA methylation in genomic
imprinting. Nature 366:362365.
Reviews some of the evidence that DNA methylation is implicated in genomic
imprinting.
McClung, C. E. 1902. The accessory chromosome: sex determinant. Biological Bulletin
3:4384.
McClungs original description of the X chromosome.
Michaud, E. J., S. J. Bultman, M. L. Klebig, et al. 1994. A molecular model for the
genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation.
Proceedings of the National Academy of Sciences of the United States of America
91:25622566.
Research report on the molecular basis of the lethal mutation that causes yellow coat
color in mice.
Morgan, T. H. 1910. Sex-limited inheritance in Drosophila. Science 32:120122.
First description of an X-linked trait.
Okamoto, I., A. P. Otte, C. D. Allis, et al. 2004. Epigenetic dynamics of imprinted X
inactivation during early mouse development. Science 303: 644649.
Reports new findings on the pattern of X-chromosome inactivation in the early
development of mammals.
Plath, K., S. Mlynarczyk-Evans, D. A. Nusinow, and B. Panning. 2002. Xist RNA and the
mechanism of X chromosome inactivation. Annual Review of Genetics 36:233278.
An excellent review of the molecular basis of X-chromosome inactivation.

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Payer, B., and J. T. Lee. 2008. X chromosome dosage compensation: how mammals keep
the balance. Annual Review of Genetics 42:733732.
A good review of dosage compensation in mammals.
Sekido, R., and R. Lovell-Badge. 2008. Sex determination involves synergistic action of
SRY and SF1 on a specific Sox9 enhancer. Nature 453:930934.
A research report on the molecular effects of the SRY gene.
Shoffner, J. M., and D. C. Wallace. 1992. Mitochondrial genetics: principles and practice
[Invited editorial]. American Journal of Human Genetics 51:11791186.
A discussion of the characteristics of cytoplasmically inherited mitochondrial
mutations.
Thomson, G., and M. S. Esposito. 1999. The genetics of complex diseases. Trends in
Genetics 15:M17M20.
A discussion of human multifactorial diseases and the effect of the Human Genome
Project on the identification of genes influencing these diseases.
Thorup, T. A., B. Tanyolac, K. D. Livingstone, et al. 2000. Candidate gene analysis of
organ pigmentation loci in the Solanaceae. Proceedings of the National Academy of
Sciences of the United States of America 97:1119211197.
A report on a study looking at the genes that encode pigmentation in peppers.
Wallace, D. C. 1989. Mitochondrial DNA mutations and neuromuscular disease. Trends
in Genetics 5:913.
More discussion of cytoplasmically inherited mitochondrial mutations.
Chapter 5
Altshuler, D., M. J. Daly, and E. S. Lander. 2008. Genetic mapping in human disease.
Science 322:881888.
A review of powerful new methods for identifying and mapping genes that affect
human traits.
Arnheim, N., P. Calabrese, and I. Tiemann-Boege. 2007. Mammalian meiotic
recombination hot spots. Annual Review of Genetics 41:369399.
An extensive review of recombination hotspots.

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Coop, G., X. Wen, C. Ober, et al. 2008. High resolution mapping of crossovers reveals
extensive variation in fine-scale recombination patterns among humans. Science
319:13951398.
More on recombination hotspots.
Creighton, H. B., and B. McClintock. 1931. A correlation of cytological and genetical
crossing over in Zea mays. Proceedings of the National Academy of Sciences of the
United States of America 17:492497.
Creighton and McClintocks finding that crossing over is associated with the
exchange of chromosome segments.
Hillmer, A. M. 2008. Susceptibility variants for male-pattern baldness on chromosome
20p11. Nature Genetics 40:12791281.
Reports on a genomewide association study on genes that influence pattern baldness.
Hillmer, A. M., S. Hanneken, S. Ritzmann, et al. 2005. Genetic variation in the human
androgen receptor gene is the major determinant of common early-onset androgenic
alopecia. American Journal of Human Genetics 77:140148.
Reports that pattern baldness is caused by variation at the androgen receptor gene on
the X chromosome.
Hillmer, A., V. Moskvina, R. Sims, et al. 2008. Genome-wide scan and fine-mapping
linkage study of androgenetic alopecia reveals a locus on chromosome 3q26.
American Journal of Human Genetics 82:737743.
Reports that pattern baldness is also influenced by one or more genes on chromosome
3.
Jensen-Seaman, M. I., T. S. Furey, B. A. Payseur, et al. 2004. Comparative recombination
rates in rat, mouse, and human genomes. Genome Research 14:528538.
Reports on research finding that humans have about 50% more recombination than do
the mouse and rat.
Kong, A., D. F. Gudbjartsson, J. Sainz, et al. 2002. A high-resolution recombination map
of the human genome. Nature Genetics 31:241247.
A detailed report on how recombination varies across the human genome.
Myers, S., L. Bottolo, C. Freeman, et al. 2005. A fine-scale map of recombination rates
and hotspots across the human genome. Science 310:321324.

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More on recombination in the human genome.
Richards, J. B. 2008. Male-pattern baldness susceptibility locus at 20p11. Nature
Genetics 40:12821284.
Research report showing that genetic variation on chromosome 20 also contributes to
pattern baldness.
Stern, C. 1936. Somatic crossing over and segregation in Drosophila melanogaster.
Genetics 21:625631.
Sterns finding, similar to that of Creighton and McClintock, of a correlation between
crossing over and the physical exchange of chromosome segments.
Winckler, W., S. R. Myers, D. J. Richter, et al. 2005. Comparison of fine-scale
recombination rates in humans and chimpanzees. Science 308:107111.
A research report describing recombination hotspots in the genomes of humans and
chimpanzees.
Chapter 6
Arron, J. R., M. M. Winslow, A. Polleri, et al. 2006. NFAT dysregulation by increased
dosage of DSCR1 and DYRK1A on chromosome 21. Nature 441:595600.
A research report on the effect of two genes in the Down-syndrome critical region on
characteristics of Down syndrome.
Boue, A. 1985. Cytogenetics of pregnancy wastage. Advances in Human Genetics 14:1
58.
A report on a study showing that many human spontaneously aborted fetuses contain
chromosome mutations.
Brewer, C., S. Holloway, P. Zawalnyski, et al. 1998. A chromosomal deletion map of
human malformations. American Journal of Human Genetics 63:11531159.
A report on a study of human malformations related to specific chromosome
deletions.
Cohen, J. 2002. Sorting out chromosome errors. Science 296:21642166.
An interesting discussion of why humans have such a high rate of aneuploidy.

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Cook, E. H., Jr., and S. W. Scherer. 2008. Copy-number variations associated with
neuropsychiatric conditions. Nature 455:919923.
A current review of copy-number variations and their relation to neurological and
psychiatric conditions.
Dubcovsky, J., and J. Dvorak. 2007. Genome plasticity a key factor in the success of
polyploidy wheat under domestication. Science 316:18621866.
A research article that reviews the development of polyploidy wheat and molecular
evidence for genetic changes that lead to domestication.
Durkin, S. G., and T. W. Glover. 2007. Chromosome fragile sites. Annual Review of
Genetics 41:169192.
A good review of chromosome fragile sites.
Epstein, C. J. 1988. Mechanisms of the effects of aneuploidy in mammals. Annual
Review of Genetics 22:5175.
A review of how aneuploidy produces phenotypic effects in mammals.
Feldman, M., and E. R. Sears. 1981. The wild resources of wheat. Scientific American
244(1):98.
An account of how polyploidy has led to the evolution of modern wheat.
Gardner, R. J. M., and G. R. Sunderland. 2003. Chromosome Abnormalities and Genetic
Counseling, 3d ed. Oxford: Oxford University Press.
A guide to chromosome abnormalities for genetic counselors.
Griffiths, S., R. Sharp, T. N. Foote, et al. 2006. Molecular characterization of Ph1 as a
major chromosome pairing locus in polyploidy wheat. Nature 439:749752.
A research report on the molecular characterization of a single locus in wheat that
prevents the pairing of related chromosomes from different genomes in meiosis.
Hieter, P., and T. Griffiths. 1999. Polyploidy: more is more or less. Science 285:210211.
A discussion of research that shows that there is some unbalanced gene expression in
polyploid cells.
Lupski, J. R. 2006. Genome structural variation and sporadic disease traits. Nature
Genetics 38:974976.

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A short review of recent evidence to suggest that many copy-number variations are
associated with disease.
Nelson, D. L., and R. A. Gibbs. 2004. The critical region in trisomy 21. Science 306:619
620.
A commentary on research showing that trisomy of the Down-syndrome critical
region is neither necessary nor sufficient to produce the facial and cranial features of
Down syndrome in mice.
Olson, L. E., J. T. Richtsmeier, J. Leszl, and R. H. Reeves. 2004. A chromosome 21
critical region does not cause specific Down syndrome phenotypes. Science 306:687
690.
A report on research showing that trisomy of the Down-syndrome critical region is
neither necessary nor sufficient to produce the facial and cranial features of Down
syndrome in mice.
Patterson, D. 1987. The causes of Down syndrome. Scientific American 257(2):5260.
An excellent review of research concerning the genes on chromosome 21 that cause
Down syndrome.
Pennisi, E. 2008. 17q21.31: not your average genomic address. Science 322:842845.
An interesting journalistic article on the effects of deletions on chromosome 17.
Rowley, J. D. 1998. The critical role of chromosome translocations in human leukemias.
Annual Review of Genetics 32:495519.
A review of molecular analyses of chromosome translocations in leukemias.
Ryder, O. A., L. G. Chemnick, A. T. Bowling, and K. Benirschke. 1985. Male mule foal
qualifies as the offspring of a female mule and jack donkey. Journal of Heredity
76:379381.
A report on a study of a male foal (Blue Moon) born to a mule, which was discussed
in end-of-chapter Problem 32.
Salehi, A., J. Delcroix, P. V. Belichenko, et al. 2006. Increased App expression in a mouse
model of Downs syndrome disrupts NGF transport and causes cholinergic neuron
degeneration. Neuron 51:2942.
A report on the role of the App gene in Alzheimer-like symptoms seen in people with
Down syndrome.

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Sussan, T. E., A. Yang, M. C. Ostrowski, and R. H. Reeves. 2008. Trisomy represses
ApcMin-mediated tumours in mouse model of Downs syndrome. Nature 451:7375.
A research report demonstrating that the presence of three copies of chromosome 21
reduces the incidence of solid tumors.
Torres, E. M., B. R. Williams, and A. Amon. 2008. Aneuploidy: cells losing their balance.
Genetics 179:737746l.
A good historical review and up-to-date review of studies of aneuploidy, especially
theories about how they produce phenotypic effects.
Chapter 7
Birge, E. A. 2006. Bacterial and Bacteriophage Genetics, 5th ed. New York:
Springer.
An excellent textbook on the genetics of bacteria and bacteriophages.
Chen, I., P. J. Christie, and D. Dubnau. 2005. The ins and outs of DNA transfer in
bacteria. Science 310:14561460.
A detailed and somewhat technical review of the molecular machinery for
transformation and conjugation in bacteria.
Dale, J. 1998. Molecular Genetics of Bacteria, 3d ed. New York: Wiley.
A concise summary of basic and molecular genetics of bacteria and
bacteriophages.
Davies, J. 1994. Inactivation of antibiotics and the dissemination of resistance
genes. Science 264:375382.
Reviews the crisis of antibiotic resistance in bacteria, with particular emphasis
on the physiology and genetics of resistance.
Fraser, C. M., J. A. Eisen, and S. L. Salzberg. 2000. Microbial genome
sequencing. Nature 406:799803.
A short review of DNA sequencing of bacterial genomes.
Heeney, J. L., A. G. Dalgleish, and R. A. Weiss. 2006. Origins of HIV and the
evolution of resistance to AIDS. Science 313:462466.

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An excellent review of the evolutionary origins of HIV and of genetic factors
in humans that affect infection and disease progression.
Hershey, A. D., and R. Rotman. 1942. Genetic recombination between host-range
and plaque-type mutants of bacteriophage in single bacterial cells. Genetics
34:4471.
Hershey and Rotmans original report on mapping experiments with phages.
Ippen-Ihler, K. A., and E. G. Minkley, Jr. 1986. The conjugation system of F, the
fertility factor of Escherichia coli. Annual Review of Genetics 20:593624.
A detailed review of the F factor.
Kruse, H., and H. Srum. 1994. Transfer of multiple drug resistance plasmids
between bacteria of diverse origins in natural microenvironments. Applied
and Environmental Microbiology 60:40154021.
Reports experiments demonstrating the transfer of R plasmids between
diverse bacteria under natural conditions.
Lederberg, J., and E. L. Tatum. 1946. Gene recombination in Escherichia coli.
Nature 158:558.
One of the original descriptions of Lederberg and Tatums discovery of gene
transfer in bacteria. A slightly different set of experiments showing the same
result were published in 1946 in Cold Spring Harbor Symposium on
Quantitative Biology 11:113114.
Miller, R. V. 1998. Bacterial gene swapping in nature. Scientific American
278(1):6671.
A discussion of the importance of gene transfer by conjugation,
transformation, and transduction in nature.
Ochman, H., J. G. Lawrence, and E. A. Groisman. 2000. Lateral gene transfer and
the nature of bacterial innovation. Nature 405:299304.
A review of the role of horizontal gene transfer in bacterial evolution.
Pace, N. R. 1997. A molecular view of microbial diversity and the biosphere.
Science 276:734740.
A good review of the diversity and classification of bacteria based on DNA
sequence data.

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Roesch, L. F., R. R. Fulthorpe, A. Riva, et al. 2007. Pyrosequencing enumerates
and contrasts soil microbial diversity. ISME Journal 1:283290.
Reports a study that determined the number of bacterial species in a gram of
soil from four localities.
Scientific American. 1998. Volume 279, issue 1.
This issue contains a special report with a number of articles on HIV and
AIDS.
Sorek, R., Y. Zhu, C. J. Creevey, et al. 2007. Genome-wide experimental
determination of barriers to horizontal gene transfer. Science 318:14491452.
Reports a study of which genes can potentially fail to transfer between species
of bacteria through horizontal gene transfer.
Steinhauer, D. A., and J. J. Skehel. 2002. Genetics of influenza viruses. Annual
Review of Genetics 36:305332.
A review of the genetics and evolution of influenza virus.
Synder, L.. and W. Champness. 2007. Molecular Genetics of Bacteria.
Washington, D.C.: ASM Press.
A textbook on the molecular aspects of genetics in bacteria.
Trifonov, V., H. Kiabanian, and R. Rabadan. 2009. Geographic dependence,
surveillance, and origins of the 2009 influenza A (H1N1) virus. New England
Journal of Medicine 10.1056/NEJMP0904572.
Information on the novel H1N1 influenza virus (commonly called swine flu
virus) that appeared in 2009.
Walsh, C. 2000. Molecular mechanisms that confer antibacterial drug resistance.
Nature 406:775781.
A very good review of how antibiotic resistance develops and how antibiotics
that are less likely to be resisted by bacteria can be developed.
Wollman, E. L., F. Jacob, and W. Hayes. 1962. Conjugation and genetic
recombination in Echerichia coli K-12. Cold Spring Harbor Symposium on
Quantitative Biology 21:141162.
Original work on the use of interrupted conjugation to map genes in E. coli.

17
Chapter 8
Avery, O. T., C. M. MacLeod, and M. McCarty. 1944. Studies on the chemical nature of
the substance inducing transformation of pneumococcal types. Journal of
Experimental Medicine 79:137158.
Avery, MacLeod, and McCartys description of their demonstration that the
transforming principle is DNA.
Briggs, A. W., J. M. Good, R. E. Green, et al. 2009. Targeted retrieval and analysis of five
Neanderthal mtDNA genomes. Science 325:318321.
A research report of the analysis of variation among five sequenced Neanderthal
mitochrondrial genomes.
Crick, F. 1988. What Mad Pursuit: A Personal View of Scientific Discovery. New York:
Basic Books.
Francis Cricks personal account of the discovery of the structure of DNA.
Dickerson, R. E., H. R. Drew, B. N. Conner, et al. 1982. The anatomy of A-, B-, and ZDNA. Science 216:475485.
A review of differences in secondary structures of DNA.
Fraenkal-Conrat, H., and B. Singer. 1957. Virus reconstitution II: combination of protein
and nucleic acid from different strains. Biochimica et Biophysica Acta 24:540548.
Fraenkal-Conrat and Singers report on their well-known experiment showing that
RNA is the genetic material in tobacco mosaic virus.
Griffith, F. 1928. The significance of pneumoncoccal types. Journal of Hygiene 27:113
159.
Griffiths original report on the transforming principle.
Ha, S. C., K. Lowenhaupt, A. Rich, et al. 2005. Crystal structure of a junction between BDNA and Z-DNA reveals two extruded bases. Nature 437:11831186.
Reports an investigation into the three-dimensional configuration of a B-DNA
molecule, part of which is flipped into the Z-DNA configuration.
Hershey, A. D., and M. Chase. 1952. Independent functions of viral protein and nucleic
acid in growth of bacteriophage. Journal of General Physiology 36:3956.

18
Hershey and Chases original report on their well-known experiment with T2
bacteriophage.
Krings, M., A. Stone, R. W. Schmitz, et al. 1997. Neanderthal DNA sequences and the
origin of modern humans. Cell 90:1930.
Original report on the recovery and analysis of Neanderthal DNA.
Miescher, F. 1871. On the chemical composition of pus cells. Hoppe-Seylers Med.Chem. Untersuch. 4:441460. Abridged and translated in Great Experiments in
Biology, M. L. Gabriel and S. Fogel, Eds. Englewood Cliffs, N. J.: Prentice Hall,
1955.
An abridged and translated version of Mieschers original paper chemically
characterizing DNA.
Mirsky, A. E. 1968. The discovery of DNA. Scientific American 218(6):7888.
A good account of the discovery of DNA structure.
Rich, A., A. Nordheim, and A. H.-J. Wang. 1984. The chemistry and biology of lefthanded Z-DNA. Annual Review of Biochemistry 53:791846.
A good review article on the structure and possible function of Z-DNA.
Rich, A., and S. Zhang. 2003. Z-DNA: the long road to biological function. Nature
Reviews Genetics 4:566572.
An excellent review of a possible function for Z-DNA by one of the leading
researchers in the field.
Sayre, A. 2000. Rosalind Franklin and DNA. W.W. Norton and Company, New York.
A biography of Rosalind Franklin, who played a major role in the discovery of DNA.
Serre, D., A. Langaney, M. Chech, et al. 2004. No evidence of Neanderthal mtDNA
contribution to early modern humans. PLoS Biology 2:03120317.
An analysis of DNA from additional Neanderthal specimens and from Cro-Magnons.
Watson, J. D. 1968. The Double Helix. New York: Atheneum.
An excellent account of Watson and Cricks discovery of DNA.
Watson, J. D., and F. C. Crick. 1953. Molecular structure of nucleic acids: a structure for
deoxyribose nucleic acids. Nature 171:737738.

19

The original paper in which Watson and Crick first presented their new structure for
DNA.
Zimmerman, S. B. 1982. The three-dimensional structure of DNA. Annual Review of
Biochemistry 51:395427.
A review of the different secondary structures that DNA can assume.
Chapter 9
Baker, T. A., and S. H. Wickner. 1992. Genetics and enzymology of DNA replication in
Escherichia coli. Annual Review of Genetics 26:447477.
A detailed review of replication in bacteria.
Crabbe, L., R. E. Verdun, C. I. Haggblom, and J. Karlseder. 2004. Defective telomere
lagging strand synthesis in cells lacking WRN helicase activity. Science 306:1951
1953.
Reports evidence that people with Werner syndrome suffer from a defect in telomerelength maintenance.
Echols, H., and M. F. Goodman. 1991. Fidelity mechanisms in DNA replication. Annual
Review of Biochemistry 60:477511.
A review of error-avoidance mechanisms in replication.
Frick, D. N., and C. C. Richardson. 2000. DNA primases. Annual Review of Biochemistry
70:3980.
An excellent and detailed review of DNA primases, which are essential to the
replication process.
Friedberg, E. C., R. Wagner, and M. Radman. 2002. Specialized DNA polymerases,
cellular survival, and the genesis of mutations. Science 296:16271630.
A review of special, translesion DNA polymerases, which are capable of bypassing
distortions in DNA but make more mistakes, leading to mutations.
Garg, P., and P. M. J. Burgers. 2005. DNA polymerases that propagate the eukaryotic
DNA replication fork. Critical Reviews in Biochemistry and Molecular Biology
40:115128.

20
An excellent review of the action of DNA polymerases that act at the replication fork
in eukaryotes.
Greider, C. W., and E. H. Blackburn. 1996. Telomeres, telomerase, and cancer. Scientific
American 274(2):9297.
A readable account of telomeres, how they are replicated, and their role in cancer.
Haber, J. E. 1999. DNA recombination: the replication connection. Trends in
Biochemical Science 24:271276.
Describes the role of the establishment of replication forks in recombination.
Hbscher, U., H. Nasheuer, and J. E. Syvoja. 2000. Eukaryotic DNA polymerases: a
growing family. Trends in Biochemical Science 25:143147.
An excellent review of the increasing number of different DNA polymerases found in
eukaryotic cells and their functions.
Johnson, A., and M. ODonnell. 2005. Cellular DNA replicases: components and
dynamics at the replication fork. Annual Review of Biochemistry 74:283315.
Reviews the replication machinery, with particular emphasis on the DNA polymerase
clamp and the clamp loader.
Kornberg, A., and T. A. Baker. 1992. DNA Replication, 2d ed. New York: W. H. Freeman
and Company.
The bible of DNA replication by one of the worlds foremost authorities on the
subject.
Koster, D. A., K. Palle, E. S. Bot, et al. 2007. Antitumuor drugs impede DNA uncoiling
by topoisomerase I. Nature 448:213217.
A research report showing that the camptothecin anticancer compounds work by
preventing topoisomerase I from reducing supercoiling during replication.
Kowalczykowski, S. C. 2000. Initiation of genetic recombination and recombinationdependent replication. Trends in Biochemical Science 25:156164.
A review of the role of replication processes in recombination.
Lee, C., B. Hong, J. M. Choi, et al. 2004. Structural basis for inhibition of the replication
licensing factor Cdt1 by Geminin. Nature 430:913916.
A report on the role of Cdt1 and Geminin in replication licensing.

21

McCulloch, S. D., and T. A. Kunkel. 2008. The fidelity of DNA synthesis by eukaryotic
replicative and translesion synthesis polymerases. Cell Research 18:148161.
A review of the action of DNA polymerases in eukaryotes.
Nossal, N. C. 1983. Prokaryotic DNA replication systems. Annual Review of
Biochemistry 53:581615.
A good review of replication in bacteria.
Prakash, S., R. E. Johnson, and L. Prakash. 2005. Eukaryotic translesion synthesis DNA
polymerases: specificity of structure and function. Annual Review of Biochemistry
74:317353.
A detailed review of the enzymes that catalyze translesion DNA synthesis in
eukaryotes.
Pursell, Z. F., I. Isoz, E Lundstrm, et al. 2007. Yeast DNA polymerase epsilon
participates in leading-strand DNA replication. Science 317:127130.
A research report providing evidence that polymerase in eukaryotes carrys out
leading-strand synthesis.
Radman, M., and R. Wagner. 1988. The high fidelity of DNA duplication. Scientific
American 259(2):4046.
A very readable account of how the accuracy of DNA replication is ensured.
Robinson, N. P., I. Dionne, M. Lundgren, et al. 2004. Identification of two origins of
replication in the single chromosome of the archaeon Sulfolobus solfataricus. Cell
116:2538.
Reports on research finding that an archaebacterium has two origins of replication.
Sarin, K. Y., P. Cheung, D. Gilison, et al. 2005. Conditional telomerase induction causes
proliferation of hair follicle stem cells. Nature 436:10481052.
Reports on research finding that the protein component of telomerase stimulates cell
proliferation independent of its effect on telomere length.
Shay, J. W., and W. E. Wright. 2004. Telomeres in dyskeratosis congenita. Nature
Genetics 36:437438.
A brief summary of the role of telomeres in the genetic disease dyskeratosis
congenita.

22

Stahl, F. W. 1994. The Holliday junction on its thirtieth anniversary. Genetics 138:241
246.
A brief history of the Holliday model of recombination and an update on its relevance
today.
Toms-Loba, A., I. Flores, P. J. Fernndez-Marcos, et al. 2008. Telomerase reverse
transcriptase delays aging in cancer-resistant mice. Cell 135:609622.
Presents evidence that the activation of telomerase affects aging.
Verdun, R. E., and J. Karlseder. 2007. Replication and protection of telomeres. Nature
447:924930.
A good review of the role of telomeres and their replication.
Waga, S., and B. Stillman. 1998. The DNA replication fork in eukaryotic cells. Annual
Review of Biochemistry 67:721751.
Summarizes the components of the replication machinery and the process of DNA
synthesis that takes place at the replication fork in eukaryotic cells.
West, S. C. 1992. Enzymes and molecular mechanisms of genetic recombination. Annual
Review of Biochemistry 61:603640.
An excellent but detailed review of recombination at the molecular level.
Zakian, V. A. 1995. Telomeres: beginning to understand the ends. Science 270:1601
1606.
A review article describing telomeres and how they are replicated.
Chapter 10
Baumann, P., S. A. Qreshi, and S. P. Jackson. 1995. Transcription: new insights from
studies on archaea. Trends in Genetics 11:279283.
A discussion of how transcription in archaea is similar to that in eukaryotes.
Bushnell, D. A., K. D. Westover, R. E. Davis, and R. D. Kornberg. 2004. Structural basis
of transcription: an RNA polymerase II-TFIIB cocrystal at 4.5 angstroms. Science
303:983988.
Describes the detailed structure of RNA polymerase II with TFIIB.

23
Cramer, P., D. A. Bushnell, J. Fu, et al. 2000. Architecture of RNA polymerase II and
implications for the transcription mechanism. Science 288:640649.
A report on the detailed structure of RNA polymerase II.
Gesteland, R. F., and J. F. Atkins. 1993. The RNA World. Cold Spring Harbor, N. Y.: Cold
Spring Harbor Laboratory Press.
Contains several chapters on ribozymes and their possible role in the early evolution
of life.
Hahn, H. 2004. Structure and mechanism of the RNA polymerase II transcription
machinery. Nature Structural and Molecular Biology 11:394403.
An excellent detailed review of RNA polymerase II structure and function.
Hallen, H. E., H. Luo, J. S. Scott-Craig, and J. D. Walton. 2007. Gene family encoding
the major toxins of lethal Amanita mushrooms. Proceedings of the National Academy
of Sciences of the United States of America 104:1909719101.
A research report on the genes that produce lethal toxins in Amanita mushrooms.
Hirata, A., B. J. Klein, and K. S. Murakami. 2008. The X-ray crystal structure of RNA
polymerase from Archaea. Nature 451:851854.
Contains information about the structure and function of RNA polymerase in archaea.
Korzheva, N., A. Mustaev, M. Kozlov, et al. 2000. A structural model of transcription
elongation. Science 289:619625.
Presentation of a model of the transcription apparatus.
Kuhn, C.-D., S. R. Geiger, S. Baumli, et al. 2007. Functional architecture of RNA
polymerse I. Cell 131:12601272.
Presents structural information about RNA polymerase I.
Landick, R. 2006. A long time in the making: the Nobel Prize for RNA polymerase. Cell
127:10871090.
A short discussion of Roger Kornbergs research on RNA polymerase, for which he
was awarded the Nobel Prize in 2006.
Larson, M. H., W. J. Greenleaf, R. Landick, and S. M. Block. 2008. Applied force reveals
mechanistic and energetic details of transcription termination. Cell 132:971982.

24
A research report on the mechanism of rho-independent termination.
Lau, N. C., A. G. Seto, J. Kim, et al. 2006. Characterization of the piRNA complex from
rat testis. Science 313:363367.
A report on the characteristics of Piwi-interacting RNAs.
Lee, T. I., and R. A. Young. 2000. Transcription of eukaryotic protein-encoding genes.
Annual Review of Genetics 34:77138.
A good review of how eukaryotic genes are transcribed by RNA polymerase II.
Murakami, K. S., S. Masuda, and S. A. Darst. 2002. Structural basis of transcription
initiation: RNA polymerase holoenzyme at 4 resolution. Science 296:12801284.
A detailed view of the structure of bacterial RNA polymerase.
Onodera, Y., J. R. Haag, T. Ream, et al. 2005. Plant nuclear RNA polymerase IV mediates
siRNA and DNA methylation-dependent heterochromatin formation. Cell 120:613
622.
Reports a fourth RNA polymerase in plants.
Ptashne, M., and A. Gann. 1997. Transcriptional activation by recruitment. Nature
386:569577.
An excellent summary of how prokaryotic and eukaryotic proteins that bind to
promoters affect transcription.
Vagin, V. V., A. Sigova, C. Li, et al. 2006. A distinct small RNA pathway silences selfish
genetic elements in the germline. Science 313:320324.
Another report on Piwi-interacting RNAs.
von Hippel, P. H. 1998. An integrated model of the transcription complex in elongation,
termination, and editing. Science 281:660665.
A review of how the transcription apparatus elongates, terminates, and edits in the
course of transcription.
Wierzbicki, A. T., T. S. Ream, J. R. Haag, and C. S. Pikaard. 2009. RNA polymerase V
transcription guides ARGONAUTE4 to chromatin. Nature Genetics 41:630634.
A research report on the function of RNA polymerase V in plants.
Young, R. A. 1991. RNA polymerase II. Annual Review of Biochemistry 60:689716.

25

A review of RNA polymerase II.


Zenkin, N., Y. Yuzenkova, and K. Severinov. 2006. Transcript-assisted transcriptional
proofreading. Science 313:518520.
Reports on proofreading by RNA polymerase.
Chapter 11
Agrawal, R. K., P. Penczek, R. A. Grassucci, et al. 1996. Direct visualization of A-, P-,
and E-site transfer RNAs in the Escherichia coli ribosome. Science 271:10001002.
A three-dimensional reconstruction of the location of transfer RNAs in the three sites
of the ribosome during translation.
Armistead, J., S. Khatkar, B. Meyer, et al. 2009. Mutation of a gene essential for
ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. American Journal of
Human Genetics 84:728739.
A research report showing that BowenConradi syndrome found in Hutterite families
results from a mutation in a gene that helps synthesize the ribosome.
Cech, T. R. 2000. The ribosome is a ribozyme. Science 289:878879.
A brief commentary on research indicating that RNA in the ribosome is responsible
for catalyzing peptide-bond formation in protein synthesis.
Dever, T. E. 1999. Translation initiation: adept at adapting. Trends in Biochemical
Sciences 24:398403.
A discussion of factors that play a role in the initiation of eukaryotic translation.
Ferbitz, L., T. Maler, H. Patzelt, et al. 2004. Trigger factor in complex with the ribosome
forms a molecular cradle for nascent proteins. Nature 431:590596.
A report on research demonstrating that molecular chaperones are associated with the
ribosome and fold proteins as they exit the ribosome tunnel.
Fox, T. D. 1987. Natural variation in the genetic code. Annual Review of Genetics 21:67
91.
A review of exceptions to the universal genetic code.

26
Freeland, S. J., and L. D. Hurst. 2004. Evolution encoded. Scientific American
290(4):8491.
A review of how evolution has shaped the genetic code.
Gao, H., Z. Zhou, U. Rawat, et al. 2007. RF3 induces ribosomal conformational changes
responsible for dissociation of class I release factors. Cell 129:929941.
Presents insights into how release factor 3 helps to bring about termination of
translation.
Gualerzi, C. O., and C. L. Pon. 1990. Initiation of mRNA translation in prokaryotes.
Biochemistry 29:58815889.
A good, although fairly technical, review of the process of translational initiation in
prokaryotic cells.
Hoagland, M. 2004. Enter transfer RNA. Nature 431:249.
A brief history of the discovery of transfer RNA.
Moore, P. B., and T. A. Steitz. 2002. The involvement of RNA in ribosome function.
Nature 418:229235.
A good review of the results of structural studies of the ribosome.
Nakamura, Y., K. Ito, and L. A. Isaksson. 1996. Emerging understanding of translational
termination. Cell 87:147150.
A review of translational termination.
Preiss, T., and M. W. Hentze. 1998. Dual function of the messenger RNA cap structure in
poly(A)-tail-promoted translation in yeast. Nature 392:516519.
A research article describing evidence that the poly(A) tail plays a role in translational
initiation.
Sachs, A. B., P. Sarnow, and M. W. Hentz. 1997. Starting at the beginning, middle, and
end: translation initiation in eukaryotes. Cell 89:831838.
A good review of different ways in which translation is initiated in eukaryotic
messenger RNAs.
Schmeing, T. M., and V. Ramakrishnan. 2009. What recent ribosome structures have
revealed about the mechanism of translation. Nature 461:12341242.

27
A review of what structural studies of the ribosome reveal about the process of
translation.
Wickner, S., M. R. Maurizi, and S. Gottesman. 1999. Posttranslational quality control:
folding, refolding, and degrading proteins. Science 286:18881893.
A review of posttranslational modifications of proteins.
Yusupov, M. M., G. Z. Yusupova, A. Baucom, et al. 2001. Crystal structure of the
ribosome at 5.5 resolution. Science 292:883896.
A report on the structure of the complete ribosome with messenger RNA and bound
transfer RNAs at high resolution.
Chapter 12
Becker, P. B. 2006. A finger on the mark. Nature 442:3132.
A short review of the histone code.
Beelman, C. A., and R. Parker. 1995. Degradation of mRNA in eukaryotes. Cell 81:179
183.
An excellent review of the importance of messenger RNA stability in eukaryotic gene
regulation and of some of the ways in which messenger RNA is degraded.
Bell, A. C., A. G. West, and G. Felsenfeld. 2001. Insulators and boundaries: versatile
regulatory elements in the eukaryotic genome. Science 291:447498.
A good introduction to research on insulators.
Bestor, T. H. 1998. Methylation meets acetylation. Nature 393:311312.
A short review of research demonstrating a connection between DNA methylation
and histone acetylation.
Bird, A. P. 2007. Perceptions of epigenetics. Nature 447:396398.
A short review of epigenetics.
Bird, A. P., and A. P. Wolffe. 1999. Methylation-induced repression: belts, braces, and
chromatin. Cell 99:451454.
A discussion of the role of methylation in gene regulation and development.

28
Blackwood, E. M., and J. T. Kadonaga. 1998. Going the distance: a current view of
enhancer action. Science 281:6063.
A review and discussion of current models of enhancer action.
Fraga, M. F., E. Ballestar, M. F. Paz, et al. 2005. Epigenetic differences arise during the
lifetime of monozygotic twins. Proceedings of the National Academy of Sciences of
the United States of America 102:1060410609.
A research report on epigenetic differences in identical twins.
Gerasimova, T. I., and V. G. Corces. 2001. Chromatin insulators and boundaries: effects
on transcription and nuclear organization. Annual Review of Genetics 35:193208.
Reviews the effects of insulators and chromatin boundaries on the transcription of
eukaryotic genes.
Goldberg, A. D., C. D. Allis, and E. Bernstein. 2007. Epigenetics: a landscape takes
shape. Cell 128:635638.
A brief discussion of what is meant by the term epigenetics and how epigenetics takes
place.
Hartley, P. D., and H. D. Madhani. 2009. Mechanisms that specify promoter nucleosome
location and identity. Cell 137:445458.
A research report on the role of nucleosome positioning in gene regulation.
He, Y., S. D. Michaels, and R. M. Amasino. 2003. Regulation of flowering time by
histone acetylation in Arabidopsis. Science 302:17511754.
A report on how acetylation helps control flowering time in plants.
Hodgkin, J. 1989. Drosophila sex determination: a cascade of regulated splicing. Cell
56:905906.
A good short review of alternative splicing and how it regulates sex differentiation in
Drosophila.
Jacob, F., and J. Monod. 1961. Genetic regulatory mechanisms in the synthesis of
proteins. Journal of Molecular Biology 3:318356.
A classic paper describing Jacob and Monods work on the lac operon, as a well as a
review of gene control in several other systems.

29
Jing, Q., S. Huang, S. Guth, et al. 2005. Involvement of microRNA in AU-rich elementmediated mRNA instability. Cell 120:623634.
A research report showing that AU-rich elements in the 3 UTRs of short-lived
messenger RNAs are degraded by an microRNA-induced mechanism.
Matzke, M., A. J. M. Matzke, and J. M. Kooter. 2001. RNA: guiding gene silencing.
Science 293:10801083.
A review of RNA silencing.
Narlikar, G. J., H. H. Fan, and R. E. Kingston. 2002. Cooperation between complexes
that regulate chromatin structure and transcription. Cell 108:475487.
An excellent review of how chromatin structure represses transcription and how
proteins modify it.
Ng, H. H., and A. Bird. 2000. Histone deacetylases: silencers for hire. Trends in
Biochemical Science 25:121126.
A review of how deacetylation can affect transcription in eukaryotic cells.
Prudhomme, M., L. Attaiech, G. Sanchez, et al. 2006. Antibiotic stress induces genetic
transformability in the human pathogen Streptococcus pneumoniae. Science 313: 89
92.
A research report showing that transformation in S. pneumoniae is induced by
antibiotics.
Rassoulzadegan, M., V. Grandjean, P. Gounon, et al. 2006. RNA-mediated nonmendelian inheritance of an epigenetic change in the mouse. Nature 441:469474.
An example of an epigenetic effect mediated by RNA.
Reik, W. 2007. Stability and flexibility of epigenetic gene regulation in mammalian
development. Nature 447:425432.
A review of the role of epigenetic changes in the developmental programming of
cells.
Ross, J. 1989. The turnover of messenger RNA. Scientific American 260(4):4855.
A review of factors that control messenger RNA stability in eukaryotes.
Soloway, P. D. 2006. Paramutable possibilities. Nature 441:413414.

30
A short review of paramutation and how it might occur.
Stranger, B. E., A. C. Nica, M. S. Forrest, et al. 2007. Population genomics of human
gene expression. Nature Genetics 39:12171224.
Reports on genetic variation in gene-expression patterns in humans.
Tuite, M. F. 1996. Death by decapitation for mRNA. Nature 382:577579.
A discussion of the interaction of the 3 poly(A) tail and the 5 cap in messenger RNA
degradation.
Tyler, J. K., and J. T. Kadonaga. 1999. The dark side of chromatin remodeling:
repressive effects on transcription. Cell 99:443446.
A discussion of the role of chromatin-remodeling complexes in eukaryotic gene
regulation.
Valencia-Sanchez, M. A., J. Liu, G. J. Hannon, and R. Parker. 2006. Control of translation
and mRNA degradation by miRNAs and siRNAs. Genes & Development 20:515524.
An excellent review of how microRNAs and small interfering RNAs control gene
expression.
Weaver, I. C., N. Cervoni, F. A. Champagne, et al. 2004. Epigenetic programming by
maternal behavior. Nature Neuroscience 7:847854.
A research report of epigenetic changes produced in rats by maternal grooming and
licking.
Wolffe, A. P. 1994. Transcription: in tune with histones. Cell 77:1316.
A review of the role of histone proteins in eukaryotic gene regulation.
Wolffe, A. P. 1997. Sinful repression. Nature 387:1617.
A short review of the role of histone acetylation in eukaryotic gene regulation.
Youngson, N. A., and E. Whitelaw. 2008. Transgenerational epigenetic effects. Annual
Review of Genomics and Human Genetics 9:233257.
A good review of epigenetic effects that are passed from one generation to the next.
Chapter 13

31
Chamary, J. V., and L. D. Hurst. 2009. The price of silent mutations. Scientific
American 300(6):4653.
A very readable account of how silent mutations may not, in fact, be silent.
Denver, D. R., K. Morris, M. Lynch, and W. K. Thomas. 2004. High mutation rate
and predominance of insertions in the Caenorhabditis elegans nuclear
genome. Nature 430:679682.
Reports on research that examines mutation rates in C. elegans by directly
sequencing DNA.
Dovoret, R. 1979. Bacterial tests for potential carcinogens. Scientific American
241(2):4049.
A discussion of the Ames tests and more-recent tests of mutagenesis in
bacteria.
Drake, J. W., and R. H. Baltz. 1976. The biochemistry of mutagenesis. Annual
Review of Biochemistry 45:1137.
A discussion of how mutations are produced by mutagenic agents.
Goodman, M. F. 1995. DNA models: mutations caught in the act. Nature
378:237238.
A review of the role of tautomerization in replication errors.
Jackson, S. P., and J. Bartek. 2009. The DNA-damage response in human biology
and disease. Nature 461:10711078.
A review of the association of DNA repair and disease in humans.
Kunkel, T. A., and D. A. Erie. 2005. DNA mismatch repair. Annual Review of
Biochemistry 74:681710.
An extensive review of mismatch repair.
Lombard, D. B., K. F. Chua, R. Mostoslavsky, et al. 2005. DNA repair, genome
stability, and aging. Cell 120:497512.
A great review of evidence linking aging to DNA damage and DNA repair.
Martin, J. B. 1993. Molecular genetics of neurological diseases. Science 262:674
676.

32
A discussion of expanding nucleotide repeats as a cause of neurological
diseases.
Mirkin, S. M. 2007. Expandable DNA repeats and human disease. Nature
447:932940.
An excellent review of expanding nucleotide repeats and their relation to
human diseases.
Modrich, P. 1991. Mechanisms and biological effects of mismatch repair. Annual
Review of Genetics 25:229253.
A comprehensive review of mismatch repair.
Sancar, A. 1994. Mechanisms of DNA excision repair. Science 266:19541956.
An excellent review of research on excision repair. This issue of Science is
about the molecule of the year for 1994, which was DNA repair (actually
not a molecule).
Sinden, R. R. 1999. Biological implications of DNA structures associated with
disease-causing triplet repeats. American Journal of Human Genetics 64:346
353.
A good summary of disease-causing trinucleotide repeats and some models for
how they might arise.
Sureshkumar, S., M. Todesco, K. Schneeberger, et al. 2009. A genetic defect
caused by a triplet repeat expansion in Arabidopsis thaliana. Science
323:10601063.
A report of an expanding nucleotide repeat in a plant.
Tanaka, K., and R. D. Wood. 1994. Xeroderma pigmentosum and nucleotide
excision repair. Trends in Biochemical Sciences 19:8486.
A review of the molecular basis of xeroderma pigmentosum.
Yu, S., J. Mulley, D. Loesch, et al. 1992. Fragile-X syndrome: unique genetics of
the heritable unstable element. American Journal of Human Genetics 50:968
980.
A research report describing the expanding trinucleotide repeat that causes
fragile-X syndrome.
Chapter 14

33

Andrews, L. B., J. E. Fullarton, N. A. Holtzman, and A.G. Molulsky. 1994. Assessing


Genetic Risks: Implications for Health and Social Policy. Washington, D.C.: National
Academy Press.
A discussion of some of the legal, ethical, and social issues surrounding gene testing.
Berg, P., D. Baltimore, H. W. Boyer, et al. 1974. Potential biohazards of recombinant
DNA molecules. Science 185:303.
A well-known letter calling for a moratorium on certain types of recombinant DNA
experiments.
Biber, F. R., C. H. Brenner, and D. Lazer. 2006. Finding criminals through DNA of their
relatives. Science 312:13151316.
An interesting policy article on the use of DNA methods to find criminals through the
identification of their relatives.
Cavazzana-Calvo, M., A. Thrasher, and F. Mavilio. 2004. The future of gene therapy.
Nature 427:779781.
A good review of the state of gene therapy.
Cohen, S., A. Chang, H. Boyer, and R. Helling. 1973. Construction of biologically
functional bacterial plasmids in vitro. Proceedings of the National Academy of
Sciences of the United States of America 70:32403244.
A description of the first gene-cloning experiments.
Dykxhoorn, D. M., and J. Lieberman. 2006. Knocking down disease with siRNAs. Cell
126:231235.
A review of the use of small interfering RNAs for treating diseases.
Gasser, C. S., and R. T. Fraley. 1992. Transgenic crops. Scientific American 266(6):62
69.
An excellent and readable account of how genes are put into plants and some of the
applications.
Isner, J. M. 2002. Myocardial gene therapy. Nature 415:234239.
A discussion of research on the use of gene therapy to treat coronary artery disease
and heart failure.

34
Maguire, A. M., F. Simonelli, E. A. Pierce, et al. 2008. Safety and efficacy of gene
transfer for Lebers congenital amaurosis. New England Journal of Medicine
358:22402248.
A research report of the results of gene therapy for blindness caused by Lebers
congenital amaurosis.
Mak, T. W. 2007. Gene targeting in embryonic stem cells scores a knockout in
Stockholm. Cell 131:10271031.
Reports on the winning of the Nobel Prize in physiology and medicine by scientists
who developed techniques for making knock-out mice.
Moellar, L., and K. Wang. 2008. Engineering with precision: tools for the new generation
of transgenic crops. Bioscience 58:391401.
A review of new methods being used to create transgenic plants.
Mullis, K. B. 1990. The unusual origin of the polymerase chain reaction. Scientific
American 262(4):5665.
Describes Mulliss inspiration for the polymerase chain reaction.
Nowak, R. 1994. Forensic DNA goes to court with O. J. Science 265:13521354.
A report on the use of DNA fingerprinting in the famed O. J. Simpson trial.
Raney, T., and P. Pingali. 2007. Sowing a gene revolution. Scientific American
297(3):104111.
A discussion of the challenges of using genetic engineering to boost food production.
Rossi, J. J. 2009. New hope for a microRNA therapy for liver cancer. Cell 137:990992.
A report on research in which miRNA was used to treat liver cancer in mice.
Strauss, S. H. 2003. Genomics, genetic engineering, and domestication of crops. Science
300:6162.
A discussion of some of the benefits and risks of the genetic engineering of
agricultural crops.
Vaeck, M., A. Reynaerts, H. Hofte, et al. 1987. Transgenic plants protected from insect
attack. Nature 328:3337.
A research report on the first transfer of the gene for the Bt toxin into tobacco plants.

35
Wofenbarger, L. L., and P. R. Phifer. 2000. The ecological risks and benefits of
genetically engineered plants. Science 290:20882093.
A review of scientific evidence of benefits and risks associated with the use of
genetically engineered organisms in agriculture.
Yan, H., K. W. Kinzler, and B. Vogelstein. 2000. Genetic testing: present and future.
Science 289:18901892.
A review of some of the problems associated with genetic testing and current
techniques being developed to overcome them.
Zanjani, E. D., and W. F. Anderson. 1999. Prospects for in utero human therapy. Science
285:20842088.
A review of the potential use of gene therapy in utero on unborn fetuses to correct
human genetic defects.
Zimmermann, T. S., A. C. Lee, A. Akinc, et al. 2006. RNAi-mediated gene silencing in
non-human primates. Nature 441:111114.
A report on the use of RNA interference to lower cholesterol in monkeys.
Chapter 15
Aebersold, R., and M. Mann. 2003. Mass spectrometry-based proteomics. Nature
422:198207.
A review article about the use of mass spectrometry to study proteins.
Bowman, J. L., S. K. Floyd, and K. Sakakibara. 2007. Green genes: comparative
genomics of the green branch of life. Cell 129:229234.
A concise review of how genomics is changing our understanding of the relationships
among groups of plants.
*Choe, M. K., D. Magnus, A. L. Caplan, D. McGee, and the Ethics of Genomics Group.
1999. Ethical considerations in synthesizing a minimal genome. Science 286:2087
2090.
A discussion of some of the ethical implications of creating novel organisms by
constructing a minimal genome.
Cox, J., and M. Mann. 2007. Is proteomics the new genomics? Cell 130:395398.

36
A brief discussion of the challenges and promises of proteomics.
Davies, K. 2001. Cracking the Genome: Inside the Race to Unlock Human DNA. New
York: Simon & Schuster.
A very readable account of the history of the human genome project, placed within
the context of advances in molecular biology.
Dean, P. M., E. D. Zanders, and D. S. Bailey. 2001. Industrial-scale genomics-based drug
design and discovery. Trends in Biotechnology 19:288292.
A review of the effect of genomics on drug discovery and design.
Domon, B., and R. Aebersold. 2006. Mass spectrometry and protein analysis. Science
312:212217.
A nice review of spectrometric methods for detecting and analyzing proteins.
Drosophila 12 Genome Consortium. 2007. Evolution of genes and genomes on the
Drosophila phylogeny. Nature 450:203218.
A summary of the genomes from 12 Drosophila species. There are a number of
additional articles in this issue of Nature on comparative genomics of Drosophila.
Eisenberg, D., E. M. Marcotte, I. Xenarios, and T. O. Yeates. 2000. Protein function in the
post-genomic era. Nature 405:823826.
A review of how protein function can be inferred from DNA sequence data.
Fraser, C. M., J. Eisen, R. D. Fleischmann, et al. 2001. Comparative genomics and
understanding of microbial biology. Emerging Infectious Diseases 6:505512.
An excellent overview of what has been learned from whole-genome sequences of
prokaryotic organisms.
Gibson, D. G., G. A. Benders, C. Andrews-Pfannkoch, et al. 2008. Complete chemical
synthesis, assembly, and cloning of a Mycoplasma genitalium genome. Science
319:12151220.
A report of the synthesis of a complete genome.
Honeybee Genome Sequencing Consortium. 2006. Insights into social insects form the
genome of the honeybee Apis mellifera. Nature 443:931948.
A report on the sequencing and analysis of the honeybee genome.

37
Howard, K. 2000. The bioinformatics gold rush. Scientific American 283(1):5863.
A good overview of bioinformatics and its economic potential. In this issue of
Scientific American, see articles titled The human genome business today and
Beyond the human genome.
Hugenholtz, P., and G. W. Tyson. 2008. Metagenomics. Nature 455:481483.
A short review of the metagenomics approach.
International HapMap Consortium. 2005. A haplotype map of the human genome. Nature
437:12991320.
A report on single-nucleotide polymorphisms.
International Human Genome Sequencing Consortium. 2001. Initial sequencing and
analysis of the human genome. Nature 409:860921.
A report from the public consortium on its version of the human genome sequence.
Many articles in this issue of Nature report on various aspects of the human genome.
International SNP Map Working Group. 2001. A map of human genome sequence
variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928
933.
A report on mapping single-nucleotide polymorphisms in the human genome.
Knight, J. 2001. When the chips are down. Nature 410:860861.
A news story about progress in using DNA chips to monitor gene expression.
Miller, W., D. I. Drautz, A. Ratan, et al. 2008. Sequencing the nuclear genome of the
extinct wooly mammoth. Nature 456:387390.
A report of the sequencing of the complete genome of the extinct wooly mammoth.
Nbrega, M. A., Y. Zhu, I. Plajzer-Frick, et al. 2004. Megabase deletions of gene deserts
result in viable mice. Nature 431:988993.
A research report on the deletion of large gene deserts in mice.
Redon, R., S. Ishikawa, K. R. Fitch, et al. 2006. Global variation in copy number in the
human genome. Nature 444:444454.
A report on the extent of copy-number variations in the human genome.

38
Rosamond, J., and A. Allsop. 2000. Harnessing the power of the genome in the search for
new antibiotics. Science 287:19731976.
Describes how genomic sequences can be useful in the search for new drugs.
Rubin, G. M., M. D. Yandell, J. R. Wortman, et al. 2000. Comparative genomics of the
eukaryotes. Science 287:22042215.
An analysis of the proteins encoded by the fly, worm, and yeast genomes.
Sander, C. 2000. Genomic medicine and the future of health care. Science 287:1977
1978.
A discussion of the effect of genomics on the future of medicine.
Service, R. F. 2008. Proteomics ponders prime time. Science 321:17581761.
A journalistic account of the current state of proteomics.
Turnbaugh, P. J., R. E. Ley, M. A. Mahowald, et al. 2006. An obesity-associated gut
microbiome with increased capacity for energy harvest. Nature 444:10221023.
A report on metagenomics research showing that obesity may by influenced by the
microbial community of the gut.
Welcome Trust Case Control Consortium. 2007. Genome-wide association study of
14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661
678.
A report on the use of 500,000 single-nucleotide polymorphisms to look for
associations between genes and seven common diseases.
Whitfield. C. W., S. K. Behura, S. H. Berlocher, et al. 2006. Thrice out of Africa: ancient
and recent expansions of the honeybee Apis mellifera. Science 314:642645.
A research report that examines the origin and evolution of the honeybee by using
DNA sequence data.
Venter, J. C., M. D. Adams, E. W. Myers, et al. 2001. The sequence of the human
genome. Science 291:13041351.
An analysis of the private draft of the human genome sequence. Much of this issue of
Science reports on the human genome sequence and its analysis.
Chapter 16

39

Bitttner, M., P. Meltzer, Y. Chen, et al. 2000. Molecular classification of cutaneous


malignant melanoma by gene expression profiling. Nature 406:536540.
Presents evidence of genes that affect the spread of cancer.
Chang, T., D. Yu, Y. S. Lee, et al. 2008. Widespread microRNAs repression by Myc
contributes to tumorigenesis. Nature Genetics 40:4350.
Reports that Myc, a protein produced by an oncogene, affects the expression of
microRNAs.
Chin, L., and J. W. Gray. 2008. Translating insights from the cancer genome into clinical
practice. Nature 452:553563.
A review of how information from cancer genomic studies can be used in the
treatment of cancer. Also see other articles in this issue of Nature on the use of
molecular techniques to better diagnose and treat cancer.
Fearon, E. R., and B. Vogelstein. 1990. A genetic model for colorectal tumorigenesis.
Cell 61:759767.
A review of some of the mutations that lead to colorectal cancer.
Fodde, R., and R. Smits. 2002. A matter of dosage. Science 298:761763.
A discussion of haplodeficiency in tumor-suppressor genes.
Gibbs, W. W. 2003. Untangling the roots of cancer. Scientific American 289(1):5665.
A good review of some views of cancer, including the genomic instability
hypothesis.
Gruber, S. B., N. A. Ellis, G. Rennert, et al. 2002. BLM heterozygosity and the risk of
colon cancer. Science 297:2013.
A survey showing that carriers of the tumor-suppressor gene for Bloom syndrome
have increased risk of cancer.
Gudmundsson, J., P. Sulem, A. Manolescu, et al. 2007. Genome-wide association study
identifies a second prostate cancer susceptibility variant at 8q24. Nature Genetics
39:631637.
An example of the power of genomic approaches to identifying genes that
contribute to cancer.

40
Hanahan, D., and R. A. Weinberg. 2000. The hallmarks of cancer. Cell 100:5770.
A review of the different types of genes that are associated with cancer.
Hernando, E., Z. Nahle, G. Juan, et al. 2004. Rb inactivation promotes genomic
instability by uncoupling cell cycle progression from mitotic control. Nature
430:797802.
A report on how the RB protein plays a role in genomic instability.
Hung, et al. 2008. A susceptibility locus for lung cancer maps to nicotine acetylcholine
receptor subunit genes on 15q25. Nature 452:633 641.
Reports that genomewide association studies have detected genes that predispose
some people to lung cancer induced by smoking.
Knudson, A. G. 2000. Chasing the cancer demon. Annual Review of Genetics 34:119.
A short history of the search for a genetic cause of cancer, along with a review of
hereditary cancers and the genes that cause them.
Kumar, M., J. Lu, K. L. Mercer, et al. 2007. Impaired microRNA processing enhances
cellular transformation and tumorigenesis. Nature Genetics 39:673682.
A report on research showing that global reduction in microRNAs
increases tumor progression.
Ledford, H. 2010. The cancer genome challenge. Nature 465:972 974.
A new article on current efforts to sequence the genomes of cancer cells.
Lengauer, C. 2003. An unstable liaison. Science 300:442443.
A discussion of the role of DNA methylation in cancer.
Lengauer, C., K. W. Kinzler, and B. Vogelstein. 1998. Genetic instabilities in human
cancer. Nature 396:643649.
A review of how defects in DNA repair and chromosome-segregation genes lead to
cancer.
Ma, L., J. Teruya-Feldstein, and R. A. Weinberg. 2007. Tumour invasion and metastasis
initiated by microRNA-10b in breast cancer. Nature 449:682688.
A report on the role of microRNAs in breast cancer.

41
Massague, J. 2004. G1 cell-cycle control and cancer. Nature 432:298306.
A comprehensive review of cell-cycle control at the G1/S checkpoint.
Minn, A. J., G. P. Gupta, P. M. Siegel, et al. 2005. Genes that mediate breast cancer
metastasis to lung. Nature 436:518524.
A report on the detection of genes having roles in the metastasis of breast-tumor cells
to the lung.
Orr-Weaver, T. L., and R. A. Weinberg. 1998. A checkpoint on the road to cancer. Nature
392:223224.
A discussion of how mutations that affect cell-cycle checkpoints may contribute to
cancer progression.
Pogue-Geile, K. L., R. Chen, M. P. Bronner, et al. 2006. Palladin mutation causes
familial pancreatic cancer and suggests a new cancer mechanism. PLoS Medicine
3:22162228.
A report on research showing that a mutation in the palladin gene is associated with
the spread of pancreatic cancer.
Ponder, B. A. 2001. Cancer genetics. Nature 411:336341.
A good review of the types of genetic events that contribute to cancer.
Seligson, D. B., S. Horvath, T. Shi, et al. 2005. Global histone modification patterns
predict risk of prostate cancer recurrence. Nature 435:12621270.
A report on how histone acetylation and methylation are associated with the chances
of prostate cancer reappearing.
Steeg, P. S. 2007. Micromanagement of metastasis. Nature 449:671-673.
A short review of the role of miRNAs in metastasis.
Stratton, M. R., P. J. Campbell, and P. A. Futreal. 2009. The cancer genome. Nature
458:719724.
A short review of genomic studies of mutations that cause cancer.
Weizman, J. B., and M. Yaniv. 1999. Rebuilding the road to cancer. Nature 400:401.

42
A discussion of the first successful attempt to convert normal human cells into cancer
cells by artificially introducing telomerase-expressing genes, oncogenes, and tumorsuppressor genes into a cell.
Chapter 17
Barton, N. H. 1989. Evolutionary quantitative genetics: how little do we know? Annual
Review of Genetics 23:3373370.
A review of how quantitative genetics is used to study the process of evolution.
Buckler, E. S., J. B. Holland, P. J. Bradbury, et al. 2009. The genetic architecture of maize
flowering time. Science 325:714718.
Reports on the identification of QTLs that affect flowering time in corn.
Cunningham, P. 1991. The genetics of thoroughbred horses. Scientific American
264(5):9298.
An interesting account of how quantitative genetics is being applied to the breeding
of thoroughbred horses.
Dudley, J. W. 1977. 76 generations of selection for oil and protein percentage in maize. In
E. Pollak, O. Kempthorne, and T. B. Bailey, Jr., Eds. Proceedings of the International
Conference on Quantitative Genetics, pp. 459473. Ames, Iowa: Iowa State
University Press.
A report on the progress of one of the longest running selection experiments.
East, E. M. 1910. A Mendelian interpretation of variation that is apparently continuous.
American Naturalist 44:6582.
Easts interpretation of how individual genes acting collectively produce continuous
variation, including a discussion of Herman Nilsson-Ehles research on kernel color
in wheat.
East, E. M. 1916. Studies on size inheritance in Nicotiana. Genetics 1:164176.
Easts study of flower length in Nicotiana.
Falconer, D. S., and T. F. C. MacKay (Contributor). 1996. Introduction to Quantitative
Genetics, 4th ed. New York: Addison-Wesley.
An excellent basic textbook on quantitative genetics.

43
Frary, A., T. C. Nesbitt, A. Frary, et al. 2000. A quantitative trait locus key to the
evolution of tomato fruit size. Science 289:8588.
A report on the discovery and cloning of one QTL that is responsible for the
quantitative difference in fruit size between wild tomatoes and cultivated varieties.
Freathy, R. M., D. O. Mook-Kanamori, U. Sovio, et al. 2010. Variants in ADCY5 and near
CCNL1 are associated with fetal growth and birth weight. Nature Genetics 42:430
435.
Analysis of genomewide association studies that located genes influencing birth
weight in humans.
Fridman, E., F. Carrari, Y. Liu, et al. 2004. Zooming in on a quantitative trait for tomato
yield using interspecific introgression. Science 305:17861789.
Research report on the use of QTL analysis to locate a gene that plays an important
role in sugar yield in tomatoes.
Gillham, N. W. 2001. Sir Francis Galton and the birth of eugenics. Annual Review of
Genetics 2001:83101.
A history of Galtons contributions to the eugenics movement.
Glazier, A. M., J. H. Nadeau, and T. J. Aitman. 2002. Finding genes that underlie
complex traits. Science 298:23452349.
A discussion of some of the methods used to find genes affecting complex
quantitative traits and what standards should exist to establish the influence of genes
on QTLs.
Jones, P., K. Chase, A. Martin, et al. 2008. Single-nucleotide-polymorphism-based
association mapping of dog stereotypes. Genetics 178:10331044.
A report on research using genomewide association studies to locate genes that affect
size and behavioral traits in dogs.
Mackay, T. F. C. 2001. The genetic architecture of quantitative traits. Annual Review of
Genetics 35:303339.
A review of techniques for QTL mapping and results from studies on QTLs.
Martienssen, R. 1997. The origin of maize branches out. Nature 386:443445.
A discussion of the identification of QTLs that contributed to the domestication of
corn.

44

Moore, K. J., and D. L. Nagle. 2000. Complex trait analysis in the mouse: the strengths,
the limitations, and the promise yet to come. Annual Review of Genetics 43:653686.
A review of the genetic analysis of complex characteristics in mice, particularly
emphasizing those that are medically important.
Nordborg, M., and D. Weigel. 2008. Next generation genetics in plants. Nature 456:720
723.
A review article on the use of genomewide association studies to find genes that
affect quantitative traits in plants.
Paterson, A. H., E. S. Lander, J. D. Hewitt, et al. 1988. Resolution of quantitative traits
into Mendelian factors by using a complete linkage map of restriction fragment length
polymorphisms. Nature 335:721726.
A report on a study identifying QTLs that control fruit mass, pH, and other important
characteristics in tomatoes.
Plomin, R. 1999. Genetics and general cognitive ability. Nature 402:C25C29.
A good discussion of the genetics of general intelligence and the search for QTLs that
influence it.
Van Laere, A., M. Nguyen, M. Braunschweig, et al. 2003. A regulatory mutation in IGF2
causes a major QTL effect on muscle growth in the pig. Nature 425:832836.
A research report on a gene associated with increased muscle mass in pigs.
Wright, S. I., I. V. Bi, S. G. Schroeder, et al. 2005. The effects of artificial selection on the
maize genome. Science 308:13101314.
Describes the use of single-nucleotide polymorphisms to better understand how corn
was domesticated.
Zheng, P., W. B. Allen, K. Roesler, et al. 2008. A phenylalanine in DGAT is a key
determinant of oil content and composition in maize. Nature Genetics 40:367372.
A research report on a gene that controls increased oil production in corn.
Zimmer, C. 2008. The search for intelligence. Scientific American 299(4):6875.
A readable account of research that is attempting to locate genes that influence
intelligence in humans.

45
Chapter 18
Buri, P. 1956. Gene frequency in small populations of mutant Drosophila. Evolution
10:367402.
Buris report on his well-known experiment demonstrating the effects of genetic drift
on allelic frequencies.
Hardy, G. H. 1908. Mendelian proportions in a mixed population. Science 28:4950.
Original paper by Godfrey Hardy outlining the HardyWeinberg law.
Hartl, D. L., and A. G. Clark. 1997. Principles of Population Genetics, 3d ed.
Sunderland, Mass.: Sinauer.
An advanced textbook in population genetics.
Mettler, L. E., T. G. Gregg, and H. S. Schaffer. 1998. Population Genetics and Evolution,
2d ed. Englewood Cliffs, N. J.: Prentice Hall.
A short, readable textbook on population genetics.

Barluenga, M., K. N. Stolting, W. Salzburger, et al. 2006. Sympatric speciation in


Nicaraguan crater lake cichlid fish. Nature 439:719722.
A research report on evidence that sympatric speciation arose in cichlid fish
inhabiting Lake Apoyo in Nicaragua.
Coltman, D. W., P. ODonoghue, J. T. Jorgenson, et al. 2003. Undesirable
evolutionary consequences of trophy hunting. Nature 426:655658.
A research report on the effects of trophy hunting on horn size in bighorn
sheep.
Coyne, J. A., and H. A. Orr. 2004. Speciation. Sunderland, Mass.: Sinauer.
An excellent book on all aspects of speciation.
Forbes, A. A., T. H. Powell, L. L. Stelinski, et al. 2009. Sequential sympatric
speciation across trophic levels. Science 323:776779.
A research report on sympatric speciation in wasps that parasitize host races of
the apple maggot Rhagoletis pomenella.

46
Nei, M., and S. Kumar. 2000. Molecular Evolution and Phylogenetics. Oxford:
Oxford University Press.
An advanced textbook on the methods used in the study of molecular
evolution.
Takahata, N. 2007. Molecular clock: an anti-neo-Darwinian legacy. Genetics
176:16.
A historical account of the development of the idea of the molecular clock.
Vil, C., P. Savolainen, J. E. Maldonado, et al. 1997. Multiple and ancient origins
of the domestic dog. Science 276:16871689.
A report on the use of the molecular clock and mitochondrial DNA sequences
to estimate that the dog was domesticated more than 100,000 years ago.

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