syllabus calendar advice genetics intro genetics & the organism

LECTURE 01: INTRODUCTION

SYLLABUS

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http://www.unlv.edu/faculty/debelle/biol300/

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core course in biology essential aspect of all biology courses importance for professional schools learn vocabulary but... logic & analyses > memorization & regurgitation problem-based course, practice recommend Schaum’s Outline: Genetics assigned problems tutorial presentations don’t understand something?

INFORMATION & ADVICE

ASK

LEARNING

SPACED TRAINING~ study every night

MASSED TRAINING~ cramming M

EMO

RY

TIME

STUDY HABITS

6 PhDsRobertsAndres

$ 750 K

LECTURE 01: GENETICS & THE ORGANISM

CH1 key concepts variation quantitative methods classical methods complications

about: transmission, location, structure, function & variation in genetic material

not about: human genetics, biotechnology, molecular biology (but some)

genetic material does 3 things:1. copy2. code3. change

GENERAL INTRODUCTION

SECTION 1: TRANSMISSION

patterns of transmission cellular events during meiosis combined for chromosome theory

of inheritance (proof published in Genetics

1(1) & 1(2), 1916)

CHAPTER 1: KEY CONCEPTS(that you should already know)

DNA = hereditary material DNA = double helix of 2 wound

chains oriented in opposite directions DNA is copied – chains separate and serve as

templates 2 identical daughter DNA molecules genes = functional units of DNA*

gene = segment DNA sequence transcribed RNA RNA is translated amino acid sequence of protein protein = main determinants of structural and

physiological properties of organisms species characteristics encoded by genes P = G + E + G*E genetic variation from changed forms of genes

CHAPTER 1: KEY CONCEPTS(that you should already know)

PHENOTYPIC VARIATION characters vary in nature WHY is an evolutionary or ultimate question HOW is a mechanistic or proximate question concept of inheritance from ancient breeders Galton: blended characteristics, quantitative

phenotypes, measure individuals, continuous variation Mendel: particulate inheritance, qualitative phenotypes,

counting individuals, discontinuous variation both concepts of heredity have same physical basis differ in how they are studied only

P = G + E + G*Ephenotype = genotype + environment + interaction

PHENOTYPIC VARIATION

G1

G2

PH

EN

OT

YP

E

G

ENVIRONMENT

E1

E2

E1

E2

G+E

E

E1

E2

E1

E2

G*E

NORMS OF REACTION

P = G + E + G*Ephenotype = genotype + environment + interaction

PHENOTYPIC VARIATION

where does the E come from ?

GENESMESSAGESPEPTIDESPROTEINS

PROTEIN COMPLEXESORGANELLES

NEURONSASSEMBLIESSTRUCTURES

CIRCUITSNERVOUS SYSTEM

WHOLE ANIMALBEHAVIOR

EXPERIENCE

ENVIRONMENT

PLASTICITY

EN

VIR

ON

ME

NT

PHENOTYPIC VARIATION

P = G + E + G*Ephenotype = genotype + environment + interaction

PHENOTYPIC VARIATION

where does the G come from ?

GENETIC COMPONENT

genetic variation from alleles = different forms of genes causes polymorphism = multiple phenotypes caused by mutation = change in DNA sequence

(natural or induced) mutants – many types, very low frequency initially terms: gene, allele, locus more terms: wild type, mutant, mutation, mutant allele

GENESMESSAGESPEPTIDESPROTEINS

PROTEIN COMPLEXESORGANELLES

NEURONSASSEMBLIESSTRUCTURES

CIRCUITSNERVOUS SYSTEM

WHOLE ANIMALBEHAVIOR

EXPERIENCE

ENVIRONMENT

PLASTICITY

PHENOTYPIC VARIATION

GENESMESSAGESPEPTIDESPROTEINS

PROTEIN COMPLEXESORGANELLES

NEURONSASSEMBLIESSTRUCTURES

CIRCUITSNERVOUS SYSTEM

WHOLE ANIMALBEHAVIOR

EXPERIENCE

ENVIRONMENT

PLASTICITY

PHENOTYPIC VARIATION

0

1

FR

EQ

UE

NC

Y

PHENOTYPE

1 gene1 allele( = 0)

GENETIC COMPONENT

0.0

0.1

0.2

0.3

0.4

0.5

FR

EQ

UE

NC

Y

PHENOTYPE

1 gene2 alleles

GENETIC COMPONENT

0.0

0.1

0.2

0.3

0.4

FR

EQ

UE

NC

Y

PHENOTYPE

2 genes2 alleles

GENETIC COMPONENT

0.00

0.05

0.10

0.15

0.20

0.25

0.30

0.35

FR

EQ

UE

NC

Y

PHENOTYPE

164

3 genes

14n

3 genes2 alleles

GENETIC COMPONENT

0.00

0.05

0.10

0.15

0.20

0.25

0.30

0.35

FR

EQ

UE

NC

Y

PHENOTYPE

many genesmany alleles

GENETIC COMPONENT

natural sources: gene # / influence from F2 phenotype ratios

artificial selection

GENETIC COMPONENT

QUANTITATIVE METHODS

is there a genetic component for a trait of interest? can you do artificial selection experiments? – a

response indicates genetic components rate of response indicates number of genes what types of organisms can be used?

xx0.05

0.10

0.15

0.20

0.25

0.30

0.35

FR

EQ

UE

NC

Y

0.00

PHENOTYPE

GENETIC COMPONENT

GENETIC COMPONENT

relaxselection

10 15

fixed

not

GENETIC COMPONENT

induced sources (... stay tuned!): chemical mutagens – “point” mutations ionizing radiation – chromosome rearrangements transposon insertions – disrupt gene activity transgene expression – block / add / change gene function

– qualitative / quantitative

– spatial / temporal control

natural sources: gene # / influence from F2 phenotype ratios

artificial selection

GENETIC COMPONENT

CLASSICAL METHODS

isolate or select mutants for process of interest design of experiment important characterize genetic change – controlled matings or

crosses terms: dominant, recessive mapping: recombination, physical, insitu hybridization molecular biology: cloning, sequencing, rescue functional studies: mosaic, complementation,

biochemistry, anatomy

UNIFIED METHODS(Quantitative + Classical)

genomics proteomics

P = G + E + G*Ephenotype = genotype + environment + interaction

PHENOTYPIC VARIATION

where does the G*E come from ?

  E1 E2

G1

G2

INTERACTION COMPONENT

G1

G2

PH

EN

OT

YP

E

G

ENVIRONMENT

E1

E2

E1

E2

G+E

E

E1

E2

E1

E2

G*E

NORMS OF REACTION

COMPLICATIONS

expressivity: strength of phenotype in individuals penetrance: number of individuals of given

genotype expressing phenotype polygeny: >1 gene/phenotype pleiotropy: >1 phenotype/genotype

POLYGENY

GENE

GENE PHENOTYPE

GENE

BIOCHEMICAL PATHWAY: PHENOTYPE

COMPETITION / INHIBITION: PHENOTYPE

ENZYME CATALYSIS: PHENOTYPE

PLEIOTROPY

PHENOTYPE

GENE PHENOTYPE

PHENOTYPE

BIOCHEMICAL PATHWAY: GENE

RELATED PHENOTYPES: GENE UNRELATED PHENOTYPES: GENE

1 GENE

POLYGENY

PLEIOTROPY

phenotype significance interesting invariant

WHAT IS A GOOD MODEL ORGANISM ?

convenience cost sample size maintenance disease

research tools genetics / genomics molecular biology cell biology pharmacology physiology anatomy

ethical issues organisms research questions homology ?