lecture 1 genetics

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Welcome to Biol 3301 Genetics Instructors: Dr. Brigitte Dauwalder, [email protected], 713-743-2550, Office: SR2, 453G Office Hours: Tues 3:00-4:00 pm and Thursday 7:00-8:00 pm or by appointment Dr. Gregg Roman, [email protected], 713-743-5738, Office: SR2, 421G Office Hours: Tues 3:00-4:00 pm and Wednesday 10:00-11:00 pm, or by appointment Attempts will be made to record lectures. Additional course material and recorded lectures will be available through Blackboard. Blackboard Access access: http://www.uh.edu/blackboard/ Login: your cougarnet login Password: your personal password

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Genetics course

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Page 1: Lecture 1 genetics

Welcome to Biol 3301 Genetics

Instructors: Dr. Brigitte Dauwalder, [email protected], 713-743-2550, Office: SR2, 453G Office Hours: Tues 3:00-4:00 pm and Thursday 7:00-8:00 pm or by appointment Dr. Gregg Roman, [email protected], 713-743-5738, Office: SR2, 421G Office Hours: Tues 3:00-4:00 pm and Wednesday 10:00-11:00 pm, or by appointment

Attempts will be made to record lectures. Additional course material and recorded lectures will be available through Blackboard.

Blackboard Access access: http://www.uh.edu/blackboard/ Login: your cougarnet login Password: your personal password

Page 2: Lecture 1 genetics

Text: Genetic Analysis: An integrated approach by M. F. Sanders and J.L. Bowman, Pearson Education, Inc, 2012 Online Resource: MasteringGenetics www.masteringgenetics.com

Select the Correct textbook!!! Course = MGENROMANDAU2014

Grading and Exam Policies: 85% Exams + 15% Homework (Mastering Genetics) Exam grades will be based on the average of two exams + the final. A total of four exams will be given. We will drop the lowest Mid-term score. The final exam will be comprehensive. Equal weight will be given to each of the four exams. All exams will consist of short multiple choice questions ONLY. Questions on exams will only cover material presented in the lectures or in homework assignments. Lectures will usually not cover all of the material outlined in the text readings, and sometimes lectures will cover material that is not in the text. An extra 2 bonus points are available by attending a minimum of 5 recitations sections held by the Teaching Assistant.

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Sumit Saurabh, TA [email protected] Recitation: Tuesday TBD Wednesday TBD Office Hour: Friday 4-5:30 pm Rooms TBD

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1st Section

M-W T-Th Lecture Chapter

25-Aug 26-Aug Introduction 1

27-Aug 28-Aug Transmission Genetics 2

3-Sep 2-Sep Cell Division and Chromosome Heredity 3

8-Sep 4-Sep Meiotic Mapping 5

10-Sep 9-Sep Meiotic Mapping and Pedigree Analysis 5

15-Jan 11-Sep Pedigree Analysis 5

17-Sep 16-Sep Gene Interaction 4

22-Sep 18-Sep Bacteria and Phages 6

24-Sep 23-Sep Midterm 1

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Gene – the basic unit of inheritance

Genome – the entire collection of genes within an organism

Trait – an inherited characteristic AKA- phenotype

Genetics - the field of science that studies genes and their: 1) diversity of forms 2) mutations 3) replication, and 4) translation of information.

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Willie Shoemaker: 100 lbs, 4’ 11”, pale exterior Born August 19, 1931 Fabens TX Wilt Chamberlain: 275 lbs, 7’1”, less pale Born August 21, 1936 Philadelphia PA

Natural Phenotypic Variation in Americans

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Selective Breeding can increase such differences

Such Traits Show Heritability

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Law of Segregation – Maternal Paternal Law of Independent Assortment – Different traits can segregate independently between generations

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Wilhelm Johannsen 1857-1927

Coined terms Gene, genotype, and

phenotype in 1903

Gene – the basic unit of inheritance

Phenotype – an inherited characteristic

Genotype – allelic composition of the cell or organism

Allele – a form of a gene that exists at A single locus

Locus – place on a chromosome where the gene is located

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Genes make enzymes for metabolism

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Drosophila melanogaster Wild type

Drosophila melanogaster antennapedia

Genetics and the questions of biology

Genes tell the body how to develop

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• Each cell contains chromosomes, and chromosomes contain genes

The genome continuously provides the information for the organism to function.

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• Deoxyribonucleic Acid has the form of a double helix

The molecular basis of genetic information

Adenine - Thymine Guanine - Cytosine

Information content Replication

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The molecular basis of genetic information

Central Dogma

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The Mutant Variant a is recessive, the Wild Type variant A is dominant

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Loss of Tyrosinase – leads to loss of melanin Therefore, Tyrosinase is required for melanin formation

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How to use genetics to understand biology? A program of genetic investigation

Forward Genetics 1) begin with a biological question. 2) identify genetic variation (phenotype) that effects your question. 3) identify the cause of the variation i.e., what gene is responsible 4) that gene is therefore involved in that biological function

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Naïve Approach - Start with variation and see what is involved

Don’t it always seem to go That you don’t know what you’ve got Till it’s gone They paved paradise And put up a parking lot

From Big Yellow Taxi by Joni Mitchell

The program of genetic investigation

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Reverse Genetics Starts with the Gene sequence and works backwards to the Mutant Phenotype

Gene of Interest

Mutate GOI

Analyze Phenotype

Reverse Genetics

or

Directly compare Genomes to discover where the variation lies

“Phylogenetic footprinting”

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Figure 1-11a

Human Genome = 3.2 Billion Nucleotides Differences between Chimp and Human = ~ 48,000,000 base pairs

Evolution is Conservative

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Genetic Model Systems Evolution builds in layers, and is highly conservative.

Drosophila eyeless mutation

pax6

human eyeless mutation aniridia

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Genetic Model Systems

Purpose is to obtain information that would be prohibitively expensive or time consuming in a different organism.

Evolution builds in layers, and is highly conservative.

1) Inexpensive to Culture in the Laboratory

2) Fast Generation Time

3) Simple Genome

4) Little Genetic Redundancy

5) Collection of Mutants

6) Facile Transgenic Manipulation of Genome

7) Unique Features

Traits of Good Model System

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E. coli and λ phage

Neurospora Orange Bread Mold

Saccharomyces cerevisiae Budding yeast

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1) Arabidopsis thaliana

2) Caenorhabditis elegans

3) Drosophila melanogaster

4) Mus musculus

Multicellular Genetic Model Systems

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As differences exist in each of these model systems We need to understand and learn from each one.

They compliment each other to provide a broader view of biological function

Lambda Phage Lysing an E. coli host.

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• Do Genes Solely Define an Individual’s Traits?

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• Genes and the environment both influence eye size in Drosophila

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Phenotypes are frequently the result of complex interactions between the genotype and the environment and random events during development.

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The US Supreme Court upheld the right of Virginia to Sterilize those deemed genetically unfit

Buck vs. Bell 1927,

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We have seen more than once that the public welfare may call upon the best citizens for their lives. It would be strange if it could not call upon those who already sap the strength of the State for these lesser sacrifices, often not felt to be such by those concerned, in order to prevent our being swamped with incompetence. It is better for all the world, if instead of waiting to execute degenerate offspring for crime, or to let them starve for their imbecility, society can prevent those who are manifestly unfit from continuing their kind. The principle that sustains compulsory vaccination is broad enough to cover cutting the Fallopian tubes.

Oliver Wendell Holmes Chief Justice, US Supreme Court 1927

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Jessie Lee Herald, 27

Virginia Eugenic Sterilization Act Repealed in 1974

But then Virginia Strikes Again: July 24th, 2014

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Summary

Genes encode proteins (and RNAs) Variation in proteins sequences contribute to different traits or phenotypes Genetic Models Systems are invaluable tools that allow the leverage of genetic variability to answer fundamental questions in biology – Big Yellow Taxi! Ultimately, the quality of most traits are due to Genetic Factors, Environmental Factors and Developmental Noise Many of these traits have very complex inheritance patterns that are difficult to predict.