Cell Division Mitosis: 2n4n2n o Prophase Chromosomes condense & become visible Nuclear membrane (envelope) disappears o Metaphase Chromosomes assemble at equatorial plate Become attached to mitotic spindle at centromere Telomeres hang off Homologs dont pair o Anaphase Chromosomes are pulled towards opposite poles Depolymerization of microtubules o Telophase Chromosomes reach poles Chromosomes decondense Nuclear envelope reforms Cell dividecytokinesis Meiosis I o Prophase I Duplication, condensation o Metaphase I Homologs pair o Anaphase I Homologs are pulled towards opposite poles o Telophase I Homologs reach pole Chromosomes decondense Nuclear envelope reforms Crossing over in Meiosis I o Physical junctions between chromosome (crossing over)Chiasmata o Physical swapping of DNA o Can cross over in any combination o Crossing over occurs at every homolog to ensure proper separation of homologs during Meiosis I o Not too many cross overs happenregulated o Significant chromosome nondisjunctionpossibly due to limited number of cross overs Meiosis: 2n4n2nn
Mendel Usually recessive gene does not produce functional proteins
PKU (phenylketonuria) Phenylalaninetyrosine o Enzyme: PAH: Phenylalanine Hydroxylase People with PKU lack active PAH o Phenylalaninephenylpyruvic acid Build up of phenylpyruvic acid causes problems with neural developmentmental retardation
Genetics Examples 1. Petal color in plants a. Alb/alb x +/+ i. F1: alb/+ pigmented 1. Mutation is recessive b. Self F1 generation (alb/+ x alb/+) i. 3 pigmented: 1 whitesingle gene inheritance 2. Wing development in flies a. Short wings/long wings (non true breeding) b. Short wing x +/+ i. 196 short winged males ii. 194 short winged females iii. 197 long winged males iv. 201 long winged females 1. approximately 1:1 short winged: long winged (50/50 ratio) 2. Sex doesnt matter v. +/+= recessive vi. Short wing= heterozygous vii. Actual cross: Short wing/+ x +/+ (short wing is dominant) c. Cross SH/+ x SH/+ (male and female) i. Expected: 1:2:1 genotypic ratio (SH/SH: SH/+: +/+) ii. Observed: 3 short: 1 long 1. SH/SHshort winged; dominant mutant d. Single gene inheritance 3. Spore production in fungi
Forward Genetics Get mutants(1) check dominance/recessivity(2) Single gene? Yes to (2), Find gene