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Chapter 4: Modification of Mendelian Ratios

Loss-of-function mutation : mutation that causes the loss or diminution of the specific wild-type function null allele: result of a complete loss of wild-type function : mutation that may enhance the function of the wild-type product : gene product presents no change to either the phenotype or the evolutionary fitness of the organism : Expressing a heterozygous phenotype that is distinct from the phenotype of either homozygous parent; also called partial dominance. Results in an intermediate phenotype. Example: Tay-Sachs disease, snapdragon flowers : Condition in which the phenotypic effects of a gene's alleles are fully and simultaneously expressed in the heterozygote. Example: MN blood group, ABO blood-type system : homozygous recessive individuals will not survive Example: Tay-Sachs disease : the presence of just one copy of the allele results in the death of the individual Example: Huntington disease : a genetic test to determine whether two mutations occur within the same gene. If two mutations are present in a cell at the same time and produce a wild-type phenotype (i.e., they complement each other), they are often nonallelic. If a mutant phenotype is produced, the mutations are noncomplementing and are often allelic. : condition in which a single mutation causes multiple phenotypic effects Example: Marfan syndrome, porphyria variegate : the pattern of inheritance resulting from genes located on the X chromosome hemizygous: having a gene present in a single dose in an otherwise diploid cell; usually applied to genes on the X chromosome in heterogametic males Example of X-Linked traits in Humans: color blindness, Hunter syndrome : a trait that is expressed in only one sex even though the trait may not be Xlinked (e.g., cock feathering) : phenotypic expression conditioned by the sex of the individual. A heterozygote may express one phenotype in one sex and an alternate phenotype in the other sex (e.g., pattern baldness in humans)

Gain-of-function mutation Neutral mutation

Incomplete dominance

Codominance

Recessive lethal allele

Dominant lethal allele

Complementation test

Pleiotropy

X-Linkage

Sex-Limited Inheritance

Sex-Influenced Inheritance

Penetrance

: the frequency, expressed as a percentage, with which individuals of a given genotype manifest at least some degree of a specific mutant phenotype associated with a trait : the degree to which a phenotype for a given trait is expressed; reflects the range of expression

Expressivity

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Conditional mutation : A mutation expressed only under a certain condition; that is, a wild-type phenotype is expressed under certain (permissive) conditions and a mutant phenotype under other (restrictive) conditions. Temperature-sensitive mutations: phenotypic expression determined by environmental conditions : Phenotypic effects in offspring attributable to genetic information transmitted through the oocyte derived from the maternal genome. : The transmission of traits strictly through the maternal parent, usually due to DNA found in the cytoplasmic organelles, the mitochondria, or chloroplasts.

Maternal effect

Maternal inheritance

Chapter 5: Sex Determination and Sex Chromosomes

Heteromorphic chromosomes : dissimilar chromosomes that characterize one sex or the other in a wide range of species (e.g., XY pair in mammals) : involves only the gonads, where gametes are produced

Primary sexual differentiation

Secondary sexual differentiation : involves the overall appearance of the organism, including clear differences in organs as mammary glands and external genitalia Unisexual : also called dioecious and gonochoric; refers to an individual contain only male or female reproductive organs : also called monoecious and hermaphroditic; refers to an individual containing both female and male reproductive organs (common in plants and animals) Example: Zea mays (maize/corn) and C. elegans (nematode worm) : individuals of an intermediate sexual condition; most often sterile : XX/XO mode of sex determination; depends on the random distribution of the X chromosome into of the male gametes during segregation Example: C. elegans : XX/XY mode of sex determination; females only produce X gametes but males produce both X and Y. : mode of sex determination most common in birds but also seen in certain moths and butterflies, some fish, reptiles, amphibians, and plants. : mode of sex determination in Drosophila; ratio of X chromosomes to sets of autosomes determines the sexmaleness is reached when 0.50 ratio of X to autosomal, female when 1.0. : mode of sex determination in all crocodiles, most turtles, and some lizards. Sex determination is achieved according to the incubation temperature of eggs during critical period of embryonic development. aromatase: enzyme that converts androgens (male hormones) to estrogens (female hormones)

Bisexual

Intersex Protenor

Lygaeus

ZZ/ZW

Genic balance theory

Temperature-dependent SD

Pseudoautosomal regions (PARS) : A region on the human Y chromosome that is also represented on the X chromosome. Genes found in this region of the Y chromosome have a pattern of inheritance that is indistinguishable from genes on autosomes. Nonrecombining region of the Y (NRY): The rest (95%) of the chromosome that does not synapse or recombine with the X chromosome. Also known as the male-specific region of the Y (MSY) Sex-determining region Y (SRY) : critical gene that controls male sexual development; SRY encodes for a protein (testis-determining factor [TDF]) that causes the undifferentiated gonadal tissue of the embryo to form testes Primary sex ratio : proportion of males to females conceived in a population

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Secondary sex ratio Dosage compensation : proportion of each sex that is born (easier to determine than primary sex ratio) : A genetic mechanism that equalizes the levels of expression of genes at loci on the X chromosome. In mammals, this is accomplished by random inactivation of one X chromosome, leading to Barr body formation. : also known as sex chromatin body; densely staining DNA-positive mass seen in the somatic nuclei of mammalian females. Discovered by Murray Barr, this body represents an inactivated X chromosome. : The proposal describing the random inactivation of the maternal or paternal X chromosome in somatic cells of mammalian females early in development. Once inactivated, all descendant cells have the same X chromosome inactivated as their initial progenitor cell (imprinting) : X-inactive specific transcript; a locus in the X-chromosome inactivation center that controls inactivation of the X chromosome in mammalian females.

Barr body

Lyon hypothesis

XIST

Chapter 6: Chromosome Mutations

Aneuploidy : an organism gains or loses one or more chromosomes but not a complete set monosomy (2n-1), disomy (2n), trisomy (2n+1)

Autopolyploidy : the addition of one or more extra sets of chromosomes, identical to the normal haloid complement of the same species; larger than their diploid relatives autotriploids (3n), autotraploids (4n) Alloploidy : hybridizing two closely related species; hybrid organism may be sterile allotetraploid: genomes derived from same species amphidiploid: both original species are known; American cotton Gossypium : complete haploid sets of chromosomes are present diploidy (2n), polyploidy (3n, 4n, 5n, etc), triploidy (3n)

Euploidy

Nondisjunction : random error during the production of gametes; homologs fail to disjoin during segregation Deletion : chromosome breaks in one or more places and a portion of it is lost terminal deletion: deletion near one end intercalary deletion: deletion within the interior of the chromosome Duplication : chromosome present more than once in the genome; important source of genetic variability during evolution gene amplification: the process by which gene sequences are selected and differentially replicated either extrachromosomally or intrachromosomally : a segment of a chromosome is turned around 180 degrees within a chromosome paracentric inversion: centromere is not part of the rearranged chromosome segment pericentric inversion: centromere is part of the inverted segment inversion heterozygotes: organisms with one inverted chromosome and one noninverted : movement of a chromosomal segment to a new location in the genome reciprocal translocation: involves exchange of segments between two nonhomologous chromosomes Robertsonian translocation: A chromosomal aberration created by breaks in the short arms of two acrocentric chromosomes followed by fusion of the long arms of these chromosomes at the centromere; also called centric fusion. : a heritable gap, or nonstaining region, of a chromosome that can be induced to generate chromosome breaks Fragile-X Syndrome: most common form of inherited mental retardation; dominant trait on the X chromosome but not fully expressed30% of females with fragile X are retarded while 80% of males with fragile X are retarded. Long narrow faces with protruding chins, enlarged ears.

Inversion

Translocation

Fragile sites

Genetic anticipation: The phenomenon in which the severity of symptoms in genetic disorders increases from generation to generation and the age of onset decreases from generation to generation. It is caused by the expansion of trinucleotide repeats within or near a gene and was first observed in myotonic dystrophy.

EXAMPLES OF PHENOTYPIC EFFECTS Klinefleter syndrome : (47, XXY) Caused by nondisjunction; trisomy. Affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Turner syndrome : (45, X) Caused by nondisjunction; monosomy. Affects development in females; the most common feature of Turner syndrome is short stature, an early loss of ovarian function, and many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). : (47, XXX) Caused by nondisjunction; trisomy. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children. : (47, 21+) Trisomy 21. Associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. familial Down syndrome: Translocation of chromosome 21 to one end of chromosome 14 resulting in inheritable down syndrome. : (47, 13+) Trisomy 13. Heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, etc. Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life.

Triplo-X

Down syndrome

Patau Syndrome

Edwards syndrome : (47, 18+) Trisomy 18. Small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Cri du Chat : (46, 5p-) Piece of chromosome 5 is missing. Infants with this condition often have a highpitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size.