Homunculus How is “heredity passed on: Spermist vs Ovists Spermist conception of a human sperm

Homunculus Leeuwenhoek’s black male and white female rabbit experiments: spermist “proof”

Gregor Mendel Mendelian Genetics

Mendel’s Three Principles Dominance Segregation Independent Assortment The foundation of “classical” science ( )

Dominance Traits of both parents inherited, but one shows over the other Traits are not blended

Dominance Mechanism Two alleles are carried for each trait In true-breeding individuals, both alleles are the same. Hybrids, on the other hand, have one of each kind of allele. One trait is dominant, the other trait is recessive

Segregation Half the gametes (egg or sperm) will carry the traits of one parent and half the traits for the other parent Pairs of alleles are separated (=segregated) during meiosis

Two different parental characteristics will be inherited independently of one another during gamete formation. Example: flower color and leaf shape

Human Genome Project U.S. govt. project coordinated by the Department of Energy and the National Institutes of Health, launched in 1986 by Charles DeLisi. Definition: GENOME – the whole hereditary information of an organism that is encoded in the DNA. Project Goal: to identify the approximate 100,000 genes in the human DNA. -determine the sequences of the 3 billion bases that make up human DNA. -store this information in databases. -develop tools for data analysis. -address the ethical, legal, and social issues that arise from genome research.

Bacteria (E. coli, influenza, several others) Yeast (Saccharomyces cerevisiae) Plant (Arabidopsis thaliana) Fruit fly (Drosophila melanogaster) Mouse (Mus musculus) Modeled Organisms

Craig Venter Celera Genomics

Importance of genetics Understanding hereditary diseases and to develop new treatmentsUnderstanding hereditary diseases and to develop new treatments Donor matchesDonor matches PaternityPaternity ForensicsForensics EvolutionEvolution MigrationMigration

Polynesian Origins Bismarck Archipelago 3.5ka mtDNA

Polynesian Origins

Genetic Testing Would you want to know? Ethical concerns Cost Insurance companies

Difference between Meiosis and Mitosis

Meiosis I Interphase Prophase IMetaphase IAnaphase ITelephase I

Crossing Over of Nonsister Chromatids between Homologous Chromosomes

Meiosis II Prophase IIMetaphase IIAnaphase IITelephase II

Genetic Testing

Gel electrophoresis

PCR way of copying specific DNA fragments from small sample DNA material "molecular photocopying" It’s fast, inexpensive and simple Polymerase Chain Reaction

Genetic Testing Paternity Test $99 $299, looks at specific diseases 23 and me

Genes- genetic material on a chromosome that codes for a specific trait Genotype- the genetic makeup of the organism Phenotype- the expressed trait Allel- an alternative form of a gene Genetic Definitions

Dominance Mechanism Two alleles are carried for each trait In true-breeding individuals, both alleles are the same (homozygous). Hybrids, on the other hand, have one of each kind of allele (heterozygous). One trait is dominant, the other trait is recessive

Genetic Information Genes are traits “Eye color” Ear lobe connectedness Genes produce proteins Enzymes are proteins

Homologous Chromosomes allele: specific trait gene: location

Allele Example Gene = “eye color” Alleles brown blue green lavender

Allele Examples appearance eye color: homozygous B B

Allele Examples appearance eye color: heterozygous, brown dominant over blue Bb

Genotype vs Phenotype homozygous (dominant) heterozygous homozygous (recessive) genotype phenotype appearance B B B b bb

Punnett Square If male & female are heterozygous for eye color X brown:3/4 offspring blue:1/4 offspring male female b b B B B B B B B B b b b b b b

PKU Each parent carries one gene for PKU. Pp Pp X P p pP P P P p p P p p Possible genotypes: 1PP 2Pp 1pp Possible phenotypes:no PKUPKU

Compare this to what would have happened if one parent was homozygous for sickle cell. HbA HbS X HbA HbS HbA HbS HbA HbS HbA all offspring are carriers of sickle cell trait

Where Does Genetic Diversity Come From? b b Mutation b b Chromosomal Aberrations b b Genetic Recombination (e.g., from sexual reproduction) b b Mutation b b Chromosomal Aberrations b b Genetic Recombination (e.g., from sexual reproduction)

mutation Sickle Cell Mutation CTG ACT CCT GAG GAG AAG TCT Leu Thr Pro Glu Glu Lys Ser CTG ACT CCT GAG GTG AAG TCT Leu Thr Pro Glu Val Lys Ser NORMAL Hb SICKLE CELL

Autosomes and Sex Chromosomes

Red-Green Color Blindness Sex-linked trait XCXC Y XCXC XcXc X XCXC XcXc YXCXC XCXC XCXC XCXC Y XcXc XCXC Y XcXc Normal male Normal female recessive gene Possible outcomes:X C X C X C X c X C YX c Y Normal female Normal Female (carrier) Normal male Color-blind male

Eunconnected earlobe econnected earlobe Eunconnected earlobe econnected earlobe allele gene PEE x ee gametes E e F1F1 unconnected connected

F1F1 Ee x Ee gametes 1/2 E 1/2 e E e Ee EEEe ee F2F2 1 EE 2 Ee 1 ee Punnett Square

Genotypes Phenotypes Experiment to determine dominant vs. recessive

Genetic Sleuthing My eye color phenotype is brown. What is my genotype?

Complexities Multiple genes for one trait Example: eye color Blended traits (“incomplete dominance”) Influence of the environment (UV, smoking, alcoholism)

Complexities Co-dominance-neither allele is recessive and the phenotypes of both alleles are expressed. Blood types- AB (not O); sickle cell anemia heterochromia

Disorders Down’s Syndrome (chrom 21) Huntington’s (chrom 4) Alzheimer’s (chrom 1, 10, 14, 19, 21)

Tongue Roller R = Tongue Roller r = Unable to Roll Tongue

Widow’s Peak W = Widows Peak w = Lack of Widow’s Peak

Free Ear Lobe Attached Ear Lobe E = Free Ear Lobe e = Attached Ear Lobe

Hitchhiker’s Thumb Hi = Straight Thumb hi = Hitchhiker’s Thumb

Bent Little Finger Bf = Bent Little Finger bf = Straight Little Finger

Mid-digital Hair M = Mid-Digital Hair m = Absence of Mid-Digital Hair

Dimples D = Dimples d = Absence of Dimples

Short Hallux Ha = Short Hallux ha = Long Hallux

Short Index Finger S s = Short Index Finger S 1 = Long Index Finger *Sex-Influenced Trait

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