Def: Point mutations
- New genetic variation
Def: Chromosomal mutations
Name the four types of chromosomal mutations?
1) deletion
2) duplication
3) inversion
4) translocation (chromosomes exchange segments)
What are the causes of chromosomal mutations?
What may be a significant factor in maintaining reproductive isolation between species?
Non-lethal chromosomes
What are the effects of non-lethal mutations?
Pericentric vs Paracentric inversions
Pericentric: cross-over products inviable, centromere involved
Paracentric: cross-over products inviable, centromere not involved
How do chromosomal mutations play a role in Downs syndrome, leukemia, lymphoma, and cancer cells?
Downs syndrome: a reciprocal translocation causes one form of this
Leukemia and Lymphoma: translocation interrupts a gene involved in cell cycle regulation
Cancer cells: have “genomic instability” due to mutations in DNA repair genes
Are there chromosomal mutations on the human Y chromosome?
- Chinese study of hearing impairment?
How do deletions affect a homozygote where the centromere is retained?
-the gametes are inviable due to missing genes
If a chromosome loses it centromere due to deletion, what happens?
- usually lethal
How do deletions affect a heterozygote where the centromere is retained?
Def: Pseudodominance
unexpected expression of recessive allele due to absence of dominant allele
Name the three types of duplications.
1) tandem repeat
2) reverse tandem repeat
3) terminal tandem repeat
What are tandem repeats used for today?
-DNA fingerprinting
What is an example of duplication where in evolutionary time, the extra gene copies took on new functions?
What are some genetic consequences of inversions?
Are the gametes viable or inviable after a:
A) paracentric inversion
B) pericentric inversion
A) 50% viable and 50% inviable, inversion heterozygotes may have reduced fertility
B) 50% viable and 50% inviable
Def: Reciprocal translocation
2 non-homologous chromosomes exchange segments
During translocations, what are the two possibilities of what happens at anaphase I?
1) alternate segregation
- alternate centromeres segregate to same pole (50%)
- (N1+N2) vs (T1+T2)
- all gametes are viable (receive all genes)
2) adjacent segregation
- 50% of the time
- (N1+T2) vs (T1+N2)
- both not viable since some of the genes are missing, deletions and duplications
- fertility is reduced by about 50% in translocation heterozygotes
Def: Aneuploidy
Def: Euploid
- euploid number varies among species
In wild species, what is the frequency of polyploidy?
-unreduced gametes occur at about the same rate as point mutations
Rank the frequency of polyploidy in the following species: invertebrates, vertabrates and plants
highest to lowest frequency:
1) plants (40-70%) = high
2) invertebrates (42%) =variable
3) vertebrates (0%) =low