Lecture 4 Flashcards
Lethal alleles
- two copies of mutants alleles are inherited
- yellow x brown =1/2 yellow & 1/2 brown (always)
Penetrance
- % of individual that shows mutation
Types
- incomplete or variables penetrance
- individual with mutant genotype that will not show the mutant phenotype eg Osteogenesis imperfecta dominant disorder in bone formation
Expressivity
- differing levels that a phenotype is expressed.
- variables expressivity : individual shows differing degree of phenotype eg Polydactyly in cats - dominant traits, but affect cats have differing numbers of extra toes
- one genotype could produce multiple phenotypes
Why would individuals with the same mutation not show exactly the same phenotype?.
- Environment: exposure affecting those tissues could increase the chance of having disease
- not causing but increasing the chance
- Other genes: genetical background
- Subtlety of mutant phenotype
Beadle and Tatum
They investigate on genetic control of cellular chemistry Neurospora( how neurospora make amino acids.
1. They mate two different wild-type (mutagenized Conidia) then it formed fruiting bodies which was dissected and transferred to tubes of complete medium. Transfer conidia (asexual spores) to minimal medial where no growth was observed (Cos autotrophs don’t grow on minimal media plate) . Then those that failed to grow were being transferred to other supplements medial where only arginine grow on minimal + amino acid media) arginine surged on minimal +amino acid media
- each arginine mutation behave as single gene and mapped the mutation relative to other genes and found that they map to three different “Loci”
Given three genes from beadle and Tatum experiments Arg-1, Arg-2,Arg-3
If any/ either of them mutated, then arginine autotroph needs arginine to survive.
Many genes work together
- one gen, one trait
- mutation in any gene can cause related phenotype
In order to determine relationships between gene
- Mutate gene to generate mutation ( obtain many mutants) lines.
- Perform complementary test to determine gene mutated
- Make doubles lines to determine genes interactions
Complementation test
- mutant alleles in different gene
- failed to complement mutant alleles in same gene
Double mutants interaction
- No mutants interaction ( 9,3,3,1)
- Same pathway (9,7) working towards end product
3 recessive epistasis (9,3,4) two products produce phenotype
4..dominant epistasis (12,3,1) one mutant hide the other - Suppressor mutation (13:3) two wrong make a right
- Same pathway (9,7) working towards end product
- No mutants interaction ( 9,3,3,1)
Lecture 5
Chromosomal mutation
Two main theme underlying the observation on chromosomal changes
- Karyotypes: tracking evolutionary history generally remain constant within species
- most genetic imbalances result in selective disadvantage - Different karyotypes in related species
- few differ in rearrangement in closely-related species
- distantly-related species differ by many rearrangement
Chromosomal rearrangement
- normal arrangement : ABCDE-FGH
- deletion: removes BC region. ADE-FGH
- duplication: copied of BC was added into the region ABCBCDE-FGH
- Inversion: BC, it was broken out of gene but still balance ACBDE-FGH - Translocation: part of chromosome exchange with other part. ABCDE-FGH, LMNOPQR—> ABCDPQR AND LMNOEFGH
Effect of chromosomes rearrangement
- impact on phenotype or even viability by affecting gene balance
- Severity effects depend on wether the individual is homozygous or heterozygous
- all the changes can alter crossing- over affecting the fertility of individuals
Deletion loop forms in the chromosome of deletion
- recombinants occurs at only homologous region
- no recombinant within the the deletion loop
- genetic map distance In deletion heterogeneous is inaccurate