Lecture 4 Flashcards
(34 cards)
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
Duplication type
- tandem duplication and non- tandem
- Tandem : not disperse
- non- tandem is disperse
Different aspect of the genome that can duplicate
- Exon duplicate/shuffle at lowest level ( exon duplication create new gene variants) and exon shuffling create new gene.
- at next level, entire gene duplicate and create multi- gene .
- gene family duplicate to produce gene superfamily
Chromosomes breakage can produce inversion
- peeicentric: occurs in the middle of the chromosome
- paracentric: parallel to each other
- Inversion can disrupts a gene or loss of function
Inversion loop form in inversion
- this allows for tightest possible allignment of homologous region
- crossing over within inversion loops produces aberrant recombinant chromatids
Why pericentric inversion heterozygotes produce few recombinant progeny
- Each recomb chromatids has centromere but genetically unbalance
- Zygote formed from union of normal gametes + gamete carrying recomb is non viable
Why paracentric inversion heterozygotes produce few recombinant progeny
- One recomb chromatids lacks centromere and other recomb chromatids has two centromere
- Zygotes formed form union of normal gamete with gamete carrying the broken discentric recomb chromatids will be non viable
Summary
- inversion don’t add or remove dna but only distrupt
- they are useful genetic tools
- balancer chromosomes have inversion
- no cross over with them and gene of interest
- in inversion, heterozygotes , recombinant within inverted segment result in in genetically unbalance
Translocation
- attaching one chromosome to another
Types of translocation
- Reciprocal Translocation : two different chromosomes each break
- then they exchanged fragments that replace each other
- robertsonian translocation:
- they break at or near centromereof two acrocentric chromosomes
- generate one large metacentric chromosome and one small chromosome which usually lost
- can reshape genome