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Genetics in our midst

Introduction to

Genetics in SCI-FI

1982: use of insulin produced by recombinant DNA

technology
1990: first use of gene therapy to treat SCID
1993: US FDA approved the first GMO (Flavr Savr
Tomato)
1995: DNA testing in forensics gains fame in the O.J.
Simpson trial
1997: Dolly the sheep was cloned
1998: deCODE controversy in Iceland
2001: Completion of Human Genome Project
2003: Launch of UK Biobank

Genetics in SCI-FI
Gattaca Corp. is an aerospace
firm in the future.
During this time society analyzes
your DNA and determines where
you belong in life (genetically
haves and have nots).
Ethan Hawke's character was
born with a congenital heart
condition which would cast him
out of getting a chance to travel in
space.
So in turn he assumes the identity
of an athlete who has genes that
would allow him to achieve his
dream of space travel.

Genetics in SCI-FI

The Human Genome Project

Sequencing the entire human genome
Initiated by US Dept of Energy and
National Institutes of Health
Formally initiated in 1990 and finished in 2003
Estimated cost: US$ 3 billion
Goals:
Identify all the approximately 20,000-25,000 genes in human
DNA,
Determine the sequences of the 3 billion chemical base pairs
that make up human DNA,
Store this information in databases,
Improve tools for data analysis,
Transfer related technologies to the private sector, and
Address the ethical, legal, and social issues (ELSI) that may
arise from the project.
Sequence related organisms

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Benefits from HGP

What have we learned

from the human genome?

Molecular medicine
Identification of genes associated with genetic
diseases
Improved and early detection of genetic
predisposition
Rational drug design
Augmentation or replacement of defective
genes
Microbial genomics
Evolution and anthropology
DNA forensics

What have we learned

from the human genome?
The human genome is nearly the same (99.9%) in
all people
Only about 2% of the human genome contains
genes
Humans have an estimated 25-30 thousand genes
(more than half of these are of unknown function
Almost half of all human proteins share similarities
with other organisms, underscoring the unity of life

Genetics
GEN (Greek) to become or grow into
science of heredity and variation
study of biological information (genes)
study of the mechanisms on how genetic
information is transmitted from parents to
offspring
study on how genes determine particular
traits/characteristics
study how genes work together to create an
organism

Most important contribution of

HGP to the study of Genetics

"We share 51% of our

genes with yeasts and
98% with chimpanzees
it is not genetics that
makes us human."

Why study Genetics?

We are governed by the laws of heredity
Studies the fundamental properties and problems
of LIFE.
Unifying area in biological sciences (unity in
diversity)

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Genome Comparisons

Learning from other genomes

The historical puzzle of

inheritance
Genetics started when man learned to domesticate
animals and cultivate plants.
8000 and 1000 B.C. domestication and
selective breeding of
horses, camels, oxen,
dogs
5000 B.C. cultivation
of maize, wheat, rice
and date palm.

The historical puzzle of

inheritance
Hippocrates (500-400 B.C.) humors (healthy
or diseased) as bearers of heredity.
Aristotle (384-322 B.C.) vital heat possess
the capacity to produce offspring of the same
form.
William Harvey (1578-1657) theory of
epigenesis (organisms are derived from
substances present in the egg).
Nicolaas Hartsoeker (1694) theory of
preformation (sex cells contain a complete
miniature adult called humunculus).
Matthias Schleiden (1838) - plant cells
Theodor Schwann (1839) - animal cells
Rudolf Virchow (1855) - cell theory (3rd tenet)

The historical puzzle of

inheritance
Joseph Gottlieb Kolreuter (17331806) tobacco and carnation
hybrid (performed backcrosses).
Charles Darwin (1859) theory of
evolution / natural selection
Alfred Russel Wallace (1797-1875)
speciation
Francis Galton (1883) eugenics
(selection of desired traits)
Gregor Johann Mendel (1822-1884)
father of genetics

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Why Mendel?

The historical puzzle of inheritance

Cutting-edge
INSIGHTS and
METHODOLOGIES
Excellent choice of experimental organism
Concentrated on a single trait at a time
Used pure breeds
Introduced quantitative approach to data
analysis
Formulated theories

The Study of Genetics

Mendelian Genetics
Basic patterns of inheritance

Population Genetics
behavior of genes in populations (gene pool)

Molecular Genetics

Carl Correns, Hugo de Vries, Eric von Tschermak (1900)

rediscovery of the works of Mendel.
William Bateson (1906) principle of linkage
Thomas Morgan (1911) gene theory, chromosome mapping
Ernts Ruska (1931) - electron microscope
Barbara McLintock (1944) - jumping genes (transposons)
James Watson/Francis Crick (1953) - DNA helix structure
Stanley Cohen/Herbert Boyer(1972) - recombinant DNA
Phillip Sharp/Richard Roberts(1977) - introns/exons

Chromosomal Theory of
Inheritance
Inherited traits are controlled by genes which are
located in chromosomes (Walter Sutton and
Theodore Boveri)
Chromosomes are transmitted through gametes
Gamete formation involves reduction of chromosome
number (diploid to haploid)

gene structure and function

Genomics
study of whole genetic information of a species

Genetic Variations

Central Dogma of Molecular Genetics:

from Genotype to Phenotype

The genetic material exhibits variations as a result of

mutations
Alleles alternative expression of a traits
Variations in genotypes may results to different
phenotypes

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DNA: the genetic material

A unifying molecule in the very
diverse groups of organisms

Genetic Information
DNA

Biological Information
Encoded in DNA molecule

Stored
Replicated
Expressed
Diversified

The Genetic Code

RNA

Sugar

Deoxyribose (C5H10O4)

Ribose (C5H10O5)

Strand

Double stranded

Single stranded

Nitrogenous
bases

Adenine
Thymine
Cytosine
Guanine

Adenine
Uracil
Cytosine
Guanine

Location

Mostly in the nucleus but

may also be found in
cytoplasm and
mitochondria

Mostly in the
cytoplasm but may
also be found in the
nucleus.

Protein and Biological Function

Primary structure

Protein
Homology

Secondary structure
Tertiary structure

Protein diversity:

Quaternary structure

Over 5
trillion
with 20
amino acids

H
NH2

C
R

COOH

Enzymes
Antibodies
Insulin
Collagen
Actin
Myosin
Keratin
Histones

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An altered genetic code.

Sickle Cell Anemia

Tools in Genetic Study

Breeding experiments
(transmission genetics)
Pedigree analysis
Statistical analysis
Cytogenetics
Karyotyping
Chemical/molecular
analysis
Bioinformatics
Gene chips (microarray)
Population genetics

Applications of Genetics
Plant and animal improvement
Medicine preventive measure of
inherited disease
Legal applications
Parental disputes
DNA fingerprinting
Genetic engineering
Recombinant DNA technology

Recombinant
DNA

Cloning
Dolly

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Benefits from GMOs

Concerns about GMOs

Increased volume of harvest

Use of viral promoter genes (CMV promoter)

Shorter cultivation time

Use of Bacillus thuringensis (Bt) gene for pest resistance (codes for
toxins killing insects)

Reduction of expenses on insecticides and herbicides and irrigation

(for drought resistant plants)
High quality foods due to the potential incorporation of desired
substances in harvests (mineral, vitamins, higher protein content,
vaccines etc.)
Environmental friendly (reduction in the use of insecticide
/herbicide)
Longer shelf-life of harvests
Substantial contribution to economy

Nobel Laureates in Genetics

Thomas Morgan (1933) Chromosome Theory of Inheritance
George Beadle, Joshua Lederberg, Edward Taum (1958) gene
expression
Arthur Kornberg, Severo Ochoa (1959) synthesis of DNA and RNA
Francis Crick and James Watson (1962) 3D structure of DNA
Kary Mullis (1993) Polymerase Chain Reaction
Sydney Brenner, Robert Horvitz, John Sulston (2002) - genetic
regulation of organ development and apoptosis
Andrew Fire and Craig Mellow (2006) Role of RNA in the
regulation of gene expression

Use of glyphosate resistance gene (kills all other plants except those
natural or engineered resistance)
Potential escape and spreading of the insect resistant gene
Bt gene products kills beneficial insects
Glyphosate resistance gene might produce superweeds
Potential allergic reactions to Bt gene products
Genetically engineered plant with terminator technologies is an
added burden to farmers (and will benefit only the biotechnology
companies).

Emerging Fields
Genomics study of entire genomes
of organisms
Proteomics study of entire
proteomes of organisms
Bioinformatics study of biological
data using computer programs

Roger Kornberg (2006) eukaryotic transcription

MR Capecchi, O Smithies, MJ Evans (2007) gene targeting
technology in creating knockout mice)

http://web.ornl.gov/sci/techresources/Human_Genome/posters/
chromosome/index.shtml#chooser

Legend:
Magenta and green. These regions
reflect the unique patterns of light
and dark bands seen on human
chromosomes that have been
stained to allow viewing through a
light microscope.
Red. The centromere, or constricted
portion, of each chromosome.
Yellow. Chromosomal regions that
vary in staining intensity and are
sometimes called heterochromatin
(meaning "different color").
Yellow with thin magenta
horizontal lines. (e.g., on
chromosome 21) denote variable
regions, called stalks, that connect a
very small chromosome arm (a
"satellite") to the chromosome.

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Open a new Powerpoint presentation. Write Genetics-THT1 as the title in

slide 1. Write your name below the title. Save the file as Genetics-THT1surname
Using the Gene Gateway Website, perform the following:
1. Paste the ENTIRE chromosome 2 in slide 2. (printscreen and crop)
2. Paste the in slide 3 the region of chromosome 2 where the gene for
colorectal cancer is located. (zoom-in, printscreen, crop)
3. Paste slide 4 the entire chromosome with the least number of nucleotides
(printscreen and crop)
4. Paste in slide 5 the chromosome with the least number of genes
(printscreen and crop)
5. Paste in slide 6 the chromosome with the longest heterochromatin
(printscreen and crop)
6. Paste in slide 7 the chromosome where the genes for hemophilia A and B
are located (printscreen and crop)
7. Paste in slide 8 all the chromosomes with observable satellites.
(printscreen and crop)
8. Submit your powerpoint to your class president. Class President will
THT1 in CD on June 14, 2011.