Molecular Population Genetics of Inversion Polymorphism

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9408869 Kreitman This research will examine DNA sequence features associated with naturally occurring chromosomal rearrangements in natural populations of the fruitfly, Drosophila. Rearrangement of the genetic material, such as that caused by chromosomal translocations and inversions, are common; however, they are also causally associated with a number of genetic diseases in humans and other species. In addition, the aberrant segregation of many kinds of rearrangements with non-rearranged chromosomes in also strongly deleterious. Despite this expectation that gross rearrangement of chromosomal material will have strongly negative fitness consequences, and therefore should be rare in nature, their presence as polymorphisms in natural populations of many species and as fixed differences between species, suggests that many inversions must, in some cases, be selectively neutral or favorable. It is the goal of this research to examine the history of several inversions and to test hypotheses about the maintenance of genetic variation as well as to investigate the influence of chromosomal rearrangement on the expression and function of genes near the breakpoints. This work will also produce insights into the molecular mechanism(s) leading to chromosomal breakage. The findings will have direct applicability to the understanding of human variation and disease.