Mutation 1:

1) List four scales at which changes to the genome can occur.

2) Why are changes at a large scale likely to be more problematic than changes at a small scale? With respect to the human genome, what evidence exists that supports this contention?

3) Give two reasons why there are few triploid species.

4) Polyploidy is a common mechanism of producing new species in plants. Describe how this can occur WITHIN one species (autopolyploidy) and as a consequence of hybridization BETWEEN two species.

5) Why do trisomies and monosomies have such negative effects? Support your argument with the 'exception that proves the rule' - Turner's Syndrome.

6) How does gene duplication occur? How can transposons and other highly repetitive sequences influence gene duplication?

7) Explain Ohno's hypothesis describing the evolutionary importance of duplication as a source of new evolutionary novelty.

8) What spatial and genetic relationship should we expect to see among genes if they have been produced by duplications? Do these patterns exist?

9) What happens in an inversion, and how can they be evolutionarily important to the maintenance of advantageous genetic variability?

10) Why is there a difference in the heritability of trisomy and translocation Down's syndrome?

11) What is the working hypothesis for why humans have 2n=46 while other apes have 2n=48? What evidence supports this hypothesis?

12) How can recombination within a gene create new alleles? Why is this a probable way that new alleles form, in the context of the functional relationship between exons and the proteins they encode?

13) Why are base insertions/deletions apt to be more deleterious than a substitution?