Chapter 1 Introduction to Genetics

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Mendel to DNA: Less Than a Century

Transmission of Traits Gregor Mendel Augustinian monk
1860s (published 1866, rediscovered about 1900) Garden peas Traits controlled by discrete units of inheritance which followed specific rules

Uniting Mendel and Meiosis

Chromosomal Theory of Inheritance
Sutton and Boveri independently in early 1900s

Diploid (2n) vs. haploid (n)

Homologous chromosomes

Mitosis and meiosis

Diploid vs. haploid products

Human Mitotic Chromosomes

Figure 1-2

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Human Karyotype

Figure 1-3

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Genetic Variation
Mutations
Thomas Morgan Drosophila, red vs. white eyes

Alleles Phenotype vs. genotype

Genetic Variation

Figure 1-6

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Linkage Maps
Alleles of genes located near each other on the same chromosome are more likely to be inherited as a single group

Figure 1-5

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Search for the Chemical Nature of Genes

DNA or Protein?
1920s both known to be primary constituents of chromosomes Proteins complex and interesting, DNA small and boring

Work by Griffith, Avery/McCarty/Macleod and Messelson/Stahl Watson/Crick

BacteriophageModel for Genetics Studies

Figure 1-7

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Structure of DNA and RNA

Nucleic acids made of nucleotides
G, A, T/U, C Ribose vs. deoxyribose Template-dependent synthesis Double helix, Watson/Crick 1953
Complementary pairing, A = T, G = C

Genetic code
Order of nucleotides specifies amino acids

DNA Double Helix

Figure 1-8

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Gene Expression: DNA to Phenotype Era

Transcription
Synthesis of RNA from a DNA template Messenger RNAs (mRNAs) Translation
mRNA used by ribosome to synthesize polypeptide tRNA adapters (transfer RNAs)

Central Dogma of Genetics

DNA replicates mRNA is transcribed from a DNA template Proteins are made by translation of an mRNA
Genetic code

Figure 1-9

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Proteins and Biological Function

Proteins are end products of gene expression Limitless variety possible
n20

Conformation determined by linear order of amino acids Many functions

Enzymes Immunoglobulins Structural proteins Mobility Many more

Linking Genotype to Phenotype: Sickle-Cell Anemia

Hemoglobin
2 each of alpha and beta chains plus hemes with iron atoms Carries oxygen in red blood cells Sickle cell anemia is a genetic disease causing the rbcs to sickle under certain conditions, blocking capillaries

Figure 1-10

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Sickle Cell Red Blood Cells

Figure 1-13

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Sickle Cell Mutation

Mutation changes GAG codon to GUG, glutamic acid replaced by valine in beta chain
Figure 1-12 Copyright 2006 Pearson Prentice Hall, Inc.

Genomics
Field made possible by development of recombinant DNA technology
Restriction endonucleases Cloning vectors DNA sequencing techniques

Cloning Protocol
Cut cloning vector and target DNA sample with restriction endonuclease Create recombinant DNA molecule using DNA ligase Transform into bacterial host

Figure 1-14

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Human Genome Project

Initiated by the same laboratories that brought you thermonuclear devices 1990 taken over by NIH Actually involved sequencing many genomes First draft sequence in 2001, completed in 2003 (public effort and Celera Corp.)

Haemophilus influenzae

First free-living organism to have its entire genome sequenced (under 2 Mbp)
Figure 1-15 Copyright 2006 Pearson Prentice Hall, Inc.

Impact of Biotechnology Is Growing

GMOs
Microorganisms
Pharmaceutical production Bioremediation

Plants, Animals
Food supply Bioreactors Animal cloning

Table 1-1

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Cloning Mammals
Initially by embryo splitting Dolly the sheep, 1996
Nuclear transfer method

Figure 1-16

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Biotechnology: Legal Considerations

Who Owns Transgenic Organisms, cell lines, products produced by rDNA technologies?
Patents Laws and social policies always trail technology

The First GMO

Mice genetically engineered to be susceptible for the development of many forms of cancer Rat growth hormone gene transferred to a mouse more controversial

Figure 1-17

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Molecular Biotechnology Impacts on Genetics and Medicine

New pharmaceuticals Genetic profiles of disease state
Diagnosis, DNA microarrays/chips

Rapid screening for infectious disease

Viruses and bacteria

New treatments
Gene therapy

Mapping Human Genetic-based Diseases

Thousands known Most genes mapped and sequenced

Figure 1-18

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Microarrays
Allow for the analysis of thousands of genes at a time
Mutations Gene expression levels

Figure 1-19

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Model Organisms for Genetic Studies

Model organisms
Chosen to be simpler and/or because they have specific properties
E.g. short life cycle, easy to grow, simple genetics, produce many offspring, well studied/characterized, important

Examples
E. coli, S. cerevisiae, C. elegans, Arabidopsis thaliana, Drosophila melanogaster, Danio rerio, M. musculus

Table 1-2

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