I.The Genetics Revolution Watson Crick Mendel

Introducing DNA

Questions Who is NOT one of the founders of modern genetics? a.Francis Crick b.James Watson c.James Garfield d.Gregor Mendel In which of the following processes is DNA not directly involved? a.Respirationb. Protein synthesis c. Self-replication

I. The Genetics Revolution A. DNA, genes, and chromosomes B. Applications 1. The Human Genome Project 2. DNA profiling 3. Human origins and connections 4. Genetic engineering C. Genetics Principles 1.Genotypes and phenotypes 2.Transmission Genetics 3.Autosomes and sex chromosomes 4.Pedigrees 5.Polygenic traits 6.Genes and the environment

A. DNA, Genes, and Chromosomes base nucleotide S=Deoxyribose P=Phosphate Bases: ATCG Deoxyribonucleic acid Secret of Life Base pair Nucleotide: 3 billion base pairs in Human Genome DNA structure

A. DNA, Genes, and Chromosomes Genes code for proteins Exons make up less than 2% of our DNA Codons code for amino acids Gene = introns and exons Average gene = bases Largest gene = 2.4 million bases

Significance of Proteins keratin collagen fibrin hemoglobin Myosin and actin Structural Enzymes Hormones

A. DNA, Genes, and Chromosomes chromosomes homologous 20,500 genes in human genome X y nucleus Autosomes Sex chromosomes

Questions Which of the following would you guess is not a base found in DNA? a. Adenineb. Thyminec. Phosphorine d. Guanine What are the building blocks of DNA called? a. Amino acidsb. Fatty acidsc. Neutrinos d. Nucleotides Which of the following is the coding sequence of a gene? a. Intronsb. Exonsc. Genesd. Nucleotides Which of the following is a DNA codon? A. ATPb. AUGc. AAAd. more than one of these Approximately, how many genes are in the human genome? a. 20, 000b. 2,000,000c d. 20 Approximately, what percent of our DNA consists of exons? a. 20b. 0.2c. 80d. 2

DNA is a cookbook Genes are recipes for proteins Codons are the words in the recipes ATCG are the letters of the words DNA Analogy Amino Acids are the ingredients Ribosomes are the ovens RNA is the cook Proteins are the cookies

From DNA to Population Gene Pool

Multifactorial Traits Polygenic traits

Questions What is a gene pool? a.All the genes found in a single family b.All the genes found in a population c.All the genes found in an individual d.All the genes found in all living things A single trait controlled by multiple genes is called _________. a. Multifactorialb. Polygenicc. Multigenicd. Polyfactorial If one side of a DNA molecule had the bases, GTA CTC, what would the other side have?

B. Applications Chromosome 21: 225 genes Chromosome 22: 545 genes 1. The Human Genome Project Three broad goals of the HGP Chromosome Y: 78 genes Chromosome X: 1080 genes

Mouse genome

Questions Which of the following is NOT one of the broad goals of the HGP? a.Identifying loci of genes b.Identifying functions of genes c.Identifying base pair sequences d.Changing genes to improve human health Why is genetic research on mice important for understanding the human genome? a.Mice are relatively easy to breed b.We can do experiments on mice that we can’t do on humans c.Mice have relatively short life spans, so we can see results more readily d.The genes of mice and humans are 99% analogous e.All of these are reasons why the mouse genome is important

2. DNA profiling

3. Human origins and connections Three domains Genetic homology implies biological relationship which implies common ancestry.

Genome Comparisons Bonobo Chimp 98.7% homology 6 to 8 mya

3. Human origins and connections The human family Human origins 99.9% homology The Genographic Project caveat

4. Genetic engineering

a. transgenic species

b. agriculture

c. medicine zygote egg sperm Germ line therapy 1. Gene therapy 2. Pharmacogenetics SCID

Genetic Testing

DNA microarrays (chips)

Genes and disease

d. reprogenetics In vitro fertilization (IVF) Preimplantation Genetic Diagnosis (PGD)

d. reprogenetics PGD Cystic fibrosis Hemophilia Sickle cell trait Tay Sachs (preimplantation genetic diagnosis) IVF (in vitro fertilization) Sex determination Risk diseases

e. stem cells

f. cloning

Brave New World?

C. Genetic Principles Alleles 1. Genotypes and phenotypes Homozygous recessive Homozygous dominant Heterozygous

2. Transmission Genetics: dominant and recessive traits Fold hands

3. Autosomes and sex chromosomes karyotype

4. Pedigrees

Pedigrees

5. Polygenic traits

Continuous variation

6. Genes and the environment Nature versus nurture Nature and nurture

D. Determinism Environmental determinism Genetic determinism Free will?

The End Unsubmissive Plant by Remedio Vargas