CHAPTER 1 The Genetic Approach to Biology Why is genetics so important for understanding Biology? Whats a Model Genetic Organism?

Organismal Genetics, Sources of Variation, and Molecular Genetics

(concept map)

& Repair

Gene

Genetics

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CHAPTER OUTLINE
1.1 Why genetics is needed to answer the most fundamental questions of biology? (genetic variation and inheritance) 1.2 What is the molecular basis of genetic information? (the gene structure, organization, and function) 1.3 Why variation is important in genetic investigation? (evolution is a genetic change through time) 1.4 Which methodologies are used in genetic analysis? (transmission, molecular, and population) 1.5 Why and What type of model organisms are used? 1.6 How genes and the environment determine the final phenotype of an organism? P=G+E+GE

Genetic variation in the color of corn kernels

Chapte 1 Opener

Genetic variation in the color of carrot roots

Tomato Genetic Variation

Human Eye Color Genetic Variation

Light blue Blue 0 1

Blue-green 2 Hazel 3

Light-brown 4 Brown 5

Dark-Brown 6

Gregor Mendel: Genes and the Rules of Inheritance (1866)

Geneshereditary factors responsible for traits
Allelesdifferent forms of genes Rules of Inheritance
Alleles of the same gene separate (segregate) during gamete formation Alleles of different genes segregate and independently assort during gamete formation

Each cell contains chromosomes, and chromosomes contain genes

Figure 1-2

(1014 cells) 2n

Watson and Crick: The Structure of DNA (1953)

Nucleotides are linked in a chain through sugarphosphate interactions DNA molecules are made of two chains of nucleotides wound around each other in a helix Base pairs hold the chains together
A pairs with T G pairs with C

DNA as the Genetic Material

Information flows from DNA to RNA to protein.

In all cellular organisms, the genetic material is DNA. The genetic material
Must be able to replicate

Must contain information

Must be able to change DNA double helix

Each DNA strand is the template for the production of a new strand

Figure 1-4

What is a Gene?
One gene-One polypeptide concept (Epigenetics) Genes are made of nucleic acids Nucleic acids are made of building blocks called nucleotides Nucleotides have three components Sugar molecule (ribose or deoxyribose) Phosphate molecule Nitrogen-containing molecule (adenine, guanine, cytosine, thymine, uracil) RNA is ribonucleic acid DNA is deoxyribonucleic acid

Key Points in DNA Replication

Based on the complementary nature of the two strands of duplex DNA molecules.

When the two parental strands are separated, the separated strands can serve as template for the synthesis of new strands.
New strands are assembled by incorporating nucleotides according to base-pairing rules.

At the end of replication, each template strand is paired with a newly synthesized partner strand. DNA replication is catalyzed by enzymes.

Gene Expression: Transcription and translation in a eukaryote cell

Figure 1-5

Messenger RNA is translated into a polypeptide chain

Figure 1-6

mRNA

Mutation is a Change in Genetic Information

For example: Sickle-cell disease

A mutant gene causes albinism

Figure 1-7

A mutated enzyme leads to albinism

Figure 1-8

Interacting mutations affect eye color in Drosophila

Figure 1-9

Translation and Mutation: Key Points

Coded information in an mRNA is translated into a sequence of amino acids in a polypeptide. Mutations can alter the DNA sequence of a gene. The genetic variability created by mutation is the basis for biological evolution.

Genetics and Evolution

Charles Darwin

Variation in the DNA sequence makes it possible for species to evolve over time. Organisms with similar DNA sequences are descended from a common ancestor.

Alfred Wallace

Forward genetic analysis begins with individuals of two different phenotypes

Figure 1-10

Reverse Genetics

Levels of Genetic Analysis

Mendelian Genetics (aka, Classical and Transmission genetics ) Based on analysis of the outcomes of crosses between different strains of organisms. Can be coordinated with studies of the structure and behavior of chromosomes. Molecular Genetics Studies the replication, expression, and mutation of genes at the molecular level. Rooted in the study of DNA sequences and the manipulation of DNA molecules. Population Genetics Population genetics is based on analyzing allele frequencies in a population and determining whether these frequencies changes over time. Population genetics includes evolution and the inheritance of complex traits.

Levels of Genetic Analysis Key Points

In classical genetic analysis, genes are studied by following the inheritance of traits in crosses between different strains of an organism. In molecular genetic analysis, genes are studied by isolating, sequencing, and manipulating DNA and by examining the products of gene expression. In population genetic analysis, genes are studied by assessing the variability among individuals in a group of organisms.

A phylogenetic tree

A phylogenetic tree, or phylogeny, represents the historical relationships among organisms.

The genomes of humans and chimpanzees differ by only a small percentage of nucleotides

Figure 1-11a

The genomes of humans and chimpanzees differ by only a small percentage of nucleotides

Figure 1-11b

A new study concludes that humans mated with Neanderthals 50,000 to 80,000 years ago, leaving traces of the Neanderthal genome in some modern human
Anatomically modern humans mated with Neanderthals, likely in North Africa or the Middle East as modern humans initially were moving out of Africa. The team came to that conclusion after comparing the Neanderthal genome with those of five humans today: one each from Europe, Asia, and Papua New Guinea, and two from different regions of sub-Saharan Africa. They found that from 1 to 4 percent of the DNA in the genomes of people from Eurasia and the southwestern Pacific were inherited from Neanderthals. Neanderthal-derived genes failed to show up in the African genomes.
7 MAY 2010 VOL 328 SCIENCE www.sciencemag.org

This picture shows the reconstruction of a Neanderthal woman at the Neanderthal Museum in Mettmann, Germany, on March 20, 2009.

Neanderthals (Homo neanderthalensis)

The researchers analyzed DNA samples from two Neanderthal specimens from Spain and Italy. They looked specifically at the sequence of the MC1R gene, which helps direct cells to make the pigment melanin. In modern humans, primarily of European origin, variations in this gene are responsible for red hair and light skin. The authors identified a new version, or allele, of the gene in the two Neanderthal samples. Then, they inserted the Neanderthal gene into cells that were growing in a test tube, to see how it how it affected the production of melanin. The scientists results suggest that the Neanderthal allele seems to have the same effect on melatonin production as the modern ones do. Therefore, its conceivable that at least some Neanderthals also had fair skin and red hair. These findings will be published online by the journal Science, at the Science Express website, on 25 October 2007.

Homo neanderthalensis

Probes can be used to detect specific macromolecules

Figure 1-12

kb
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5.1

NT-H

NT-Ru

Southern Blot
419
877 861 882 420 838

NT-H

202

205

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BVLZ SoD1

BVLZ Std (+)

Size marker

Northern Blot
BVLZ

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Western Blot

A small number of model organisms have been the focus of genetic research

Rod-shaped bacterium 4.6 106 base pairs (Mb) 4288 proteincoding genes Single circular chromosome Average gene size 1 Kb, no introns Genome sequenced in 1997 E. Coli x Phage Bacteriophage
(linear chromosome)

A small number of model organisms have been the focus of genetic research

Figure 1-13b

Neurospora

Genome size: 43 Mb Chromosomes: 7 autosomes (n=7) Number of genes: 10,000 Average gene size: 1.7 kb, 1.7 introns/gene Transposons: rare Genome sequenced in: 2003

A small number of model organisms have been the focus of genetic research

Arabidopsis

Figure 1-13c

Self-fertilizing Diploid, 5 autosomes (2n=10) Model for agriculturally significant plants 157 106 base pairs (Mb) 27,706 genes Average gene size 2 Kb, 4 introns/gene Genome sequenced 2000

Angiosperms Life Cycle (90 % of plant species)

Saccharomyces cerevisiae, Bakers Yeast

Unicellular fungus 16 chromosomes Reproduces sexually and asexually 12 106 base pairs (Mb) 6268 genes Average gene size 1.5 Kb, 0.03 intron/gene Genome sequenced in 1996

Drosophila melanogaster, a Fruit Fly

Anatomically complex Diploid, 3 autosomes, X and Y 170 106 base pairs 13,792 genes Average gene size, 3 Kb, 4 introns/gene Genome sequenced in 2000

Caenorhabditis elegans, a Round Worm

Model for animal development Hermaphroditic 100 106 base pairs (Mb) 20,512 genes Average gene size 5 Kb, 5 introns/gene Genome sequenced in 1998

Danio rerio, the Zebrafish

Model for vertebrate development Transparent eggs; external fertilization 1.6 109 base pairs 23,524 genes

Mus musculus, the Mouse

Biomedical research Comparative genomics 2.9 109 base pairs 25,396 genes Chromosomes 19 autosomes, X and Y (2n=40) Average gene size 40 Kb, 8.3 introns/gene Genome sequenced in 2002

Key Points
The bacterium E. coli is the premier prokaryote for genetic analysis. Model eukaryotes include yeast (S. cerevisiae), a fruit fly (D. melanogaster), a round worm (C. elegans), the mouse (M. musculus), the zebrafish (D. rerio), and a fast-growing plant (A. thaliana). Techniques such as cell culture and DNA cloning have made it possible to study the genetic material of human beings and many other organisms.

Structural comparison of the genome components of eukaryotes, prokaryotes, and viruses

Figure 1-14 pt 1

A model of interaction of genes and environment

E1 E2

A1 A2 B1 B2
Figure 1-17

E1 E2

Genes and the environment both influence eye size in Drosophila

Figure 1-18

Genetics in Society
Economic impactbiotechnology industry, pharmaceutical industry.

Legal impactpaternity testing, forensics, identification

Discoveries in genetics are changing procedures and practices in agriculture and medicine. Advances in genetics are raising ethical, legal, political, social, and philosophical questions. Philosophical and bioethical impact