Chromosomal structure: a selectable trait for evolution

Dissertation presented to obtain the Ph.D degree in Evolutionary Biology

Evolution is driven by biological diversity, which is displayed by different phenotypes. These phenotypes arise as a coordinated response to the genetic composition of each organism. Chromosomal rearrangements (CRs), such as inversions and translocations, are a type of mutation contributing both to be-tween and within species phenotypic variation. Additionally, they are a promi-nent feature of several types of cancer, in particular lymphomas. However, unlike other types of mutations, the effects of inversions and translocations have not yet been directly quantified. The objective of this thesis is to quantify the mitotic and meiotic effects of CRs and to understand if chromosomal di-versity is an important macromutation for the generation of biological diversity. Initially, we asked whether chromosomal rearrangements are a poly-morphic mutation in the fission yeast Schizosaccharomyces pombe. We found, like others, that karyotype differences are very common in S. pombe isolates in spite of nucleotide diversity of the order observed within species diversity. This fact led us to test the genetic isolation between the natural iso-lates by scoring hybrid viabilities in pairwise crosses. We found that in some cases hybrid viability was severely impaired. These results prompted us to measure the meiotic and mitotic effects of single CRs in an otherwise isogenic background.(...)

This dissertation was sponsored by Fundação para a Ciência e Tecnologia. Apoio financeiro da FCT e do FSE no âmbito do Quadro Comunitário de apoio, BD nº SFRH/BD/33214/2007.