7/2/2020

Griffiths • Wessler • Carroll • Doebley

Introduction to
Genetic Analysis
ELEVENTH EDITION

CHAPTER 1
The Genetics Revolution

© 2015 W. H. Freeman and Company

CHAPTER OUTLINE
1.1 The birth of genetics
1.2 After cracking the code
1.3 Genetics today

1
 7/2/2020

Life on Earth - Biodiversity

Each cell of an organism has a complement of DNA

2
 7/2/2020

Central Dogma of Biology

Genetics
Environment X Genotypes  Phenotype

Chromatin DNA/gene  genome  genomics

Protein  epigenome  epigenomics
Bioinformatics

transcription / expression
RNA  expressome  expressomics
 transcriptome  transcritpomics
translation
Protein  proteome  proteomics

metabolism
Metabolite  metabolome  metabolomics

3
 7/2/2020

Genetics

1. Promoter a. Bioinformatics
2. Nuclear chromosome b. Phenotype
3. Plastid chromosome c. DNA
4. mRNA d. Recombination
5. Protein e. Spatial expression
6. Metabolites f. Maternal inheritance
7. Biodiversity g. Translation
8. Genome analysis h. Terminator
8. Cross over i. Chromatin
9. Genotype j. Transcription
10. Epigenetics k. Mitosis
l. Linear
m. Environment
n. Mutation

Gregor Mendel is the

Father of Genetics

4
 7/2/2020

- 3 purple : 1 white
- Genes
- Somatic cell
- Gametes
- Alleles
- Dominant/recessive

Gene polymorphisms
The stuff of genetic variation

1 locus (monogenic)
2 different alleles
3 combinations possible

5
 7/2/2020

Chromosome number
# Common Scientific name Ploidy 1x 1n 2n 3n
name level
1 Barley Hordeum vulgare Diploid 7 7 14 21
2 Durum wheat Triticum durum Tetrapoild 7 14 28 42
3 Bread wheat
4 Rice
5 Maize
6 Tomato
7 Cucumber
8 Oilve
9 Fig
10 Arabidopsis

Question

In the diploid cells of an organism, there can be _________

different allele(s) of a given single-copy nuclear gene.

a) only one
b) one or two
c) one, two, three, or four
d) many

6
 7/2/2020

Question

In a population, there can be _________ allele(s) of a given

single-copy nuclear gene.

a) only one
b) one or two
c) one, two, three, or four
d) many

Question

When referring to two homologous chromosomes in an

individual diploid cell, which of the following statements is most
accurate?

a) These chromosomes will normally carry the same genes, in

the same order.
b) These chromosomes will normally be identical in sequence.
c) These chromosomes will normally carry the same genes,
but often not in the same order.
d) All of the above.

7
 7/2/2020

Genetics

Continuously variable trait – height –

Is controlled by multiple genes
Ronald Fisher

8
 7/2/2020

Timeline – Genetics History Key Events

-1865 G Mendel - principals of heredity:
1. Each pair of factors segregates during gamete formation
2. Males & females contribute equally to the traits in their offspring

-1902 WS Sutton and T Boveri

- (studying sea urchins) independently proposed the chromosome
theory of heredity

-1905 W Bateson
- gave the name genetics (means 'to generate' in Greek)
- introduced the words allele (allelomorph), heterozygous (impure line)
and homozygous (pure line)

-1908 GH Hardy and W Weinberg

- independently formulated the Hardy-Weinberg principle of population
genetics

Timeline – Genetics History Key Events

-1910 T Morgan
- discovered the white-eye and its sex-linkage in Drosophila

-1918 R Fisher
- Continuously variable traits are controlled by multiple genes

- 1941 G Beadle & E Tatum

- proposed the one gene - one enzyme (polypeptide) concept

-1948 B McClintock
- discovered the transposable elements in maize

-1950 E Chargaff
- demonstrated for DNA that the numbers of A and T groups are always
equal, so are the numbers of G and C groups

9
 7/2/2020

Timeline – Genetics History Key Events

-1950s R Franklin and M Wilkins

- showed by X-ray crystallography of DNA

-1953 J Watson & F Crick

- described the DNA's double helix structure by inference

-1975 E Southern
- described the Southern transfer method

-1977 F Sanger & W Gilbert

- developed DNA sequencing methods

-1978 W Gilbert
- coined the terms intron and exons;

Timeline – Genetics History Key Events

-1978 T Maniatis
- developed the genomic library screening technique

-1983 Kary Mullis

- developed polymerase chain reaction (PCR)

- 2000 Arabidopsis thaliana first genome sequence of a plant

- 2001 The human genome completely sequenced

-2010 Gene therapy and edition

10
 7/2/2020

Timeline – Genetics History Key Events

-1978 H Boyer & R Swanson
- cofounded Genentech, first biotech company

-1990 Hoffmann-La Roche AG

- acquired a majority stake in Genentech

-2009 Roche
- Bought remaining shares for approximately $46.8 billion

-1982 B Horsch at Monsanto

- First genetically modified organism (GMO) plant (petunia)

- 1987 B Horsch at Monsanto

- First GMO tomato (Flavr Savr )

- 2016 Bayer
- Bought Monsanto for US$66 billion

The one-gene-one-polypeptide hypothesis  Enzymes

1. Lowering the activation energy: To speed up the rates of

chemical reactions.
2. Specificity: To which reaction they are catalyzing and which
substrate or molecule they are working on

11
 7/2/2020

DNA is biological information

Complementary base pairing

12
 7/2/2020

The nuclear genome

13
 7/2/2020

A specific human chromosomal landscape

Chromosomal DNA is wrapped around histones: Genetics - Epigenetics

14
 7/2/2020

Genetics today
1. Classical genetics and breeding
2. Medical genetics and genomics (diseases)
3. Plant genetics and genomics
4. Genetics, adaptations, and evolution

Question

Experiments where researchers knock out a target gene in a

model organism and analyze the effects of this manipulation to
get clues regarding the function of the target gene are
examples of

a) classical genetics.
b) developmental genetics.
c) forward genetics.
d) mendelian genetics.
e) reverse genetics.

15
 7/2/2020

Probes can be used to detect specific macromolecules

Question

Which of the following chemical characteristics of DNA forms

the basis for hybridization technologies to detect specific DNA
sequences?

a) Antibodies that recognize DNA bind tightly to it, forming

highly specific probes.
b) Antigen-antibody complexes react specifically with DNA
and form the basis for Western blotting.
c) Single-stranded DNA will bind tightly to a sequence
identical to it.
d) Single-stranded DNA will bind tightly to a sequence
complementary to it.
e) No two DNA sequences are exactly identical.

16
 7/2/2020

Some organisms used as models in genetic research

Model Systems
Be prepared to present to the class the model system whose genus
name begins with the letter closest to the first letter of your last name.

Arabidopsis thaliana
Drosophilia melanogaster (fruit fly)
Saccharomyces cerevisiae (yeast)
Neurospora crassa (fungi)
Escherichia coli (bacteria)
Caenorhabditis elegans (worm)
Mus musculus (mouse)

17
 7/2/2020

Point mutations or Single nucleotide polymorphisms (SNPs)

A DNA fingerprint

18
 7/2/2020

Point mutations

SNPs for genome-wide association study (GWAS):

Tibetans have special variant of the EPAS1 gene, which helps them adapt to
life at high elevation. It regulates the number of red blood cells in response to
the level of oxygen in our tissue (inversely proportional).

19
 7/2/2020

SNPs for genome-wide association study (GWAS):

Behçet's disease (H.s.)

SNPs for genome-wide association study (GWAS): Dwarfing (S.b.)

Proc Natl Acad Sci USA. 2013

20
 7/2/2020

SNPs for lactase persistence gene (H.s.)

OCT1 RNA
pol

AGATAAGATAA T GTAG C CC C TG
G T G
Arabia Europe Ethiopia

21