Réarrangements chromosomiques dans les génomes de mammifères (caractérisation des points de cassure)

Abstract

Chromosomal rearrangements are large scale mutations that alter the structure and organisation of genomes. They are studied here in the scope of the evolution of the mammalian genomes. The aim of this work is to characterise the genomic regions which have undergone such events; the latter are called breakpoints. We first developed a method to precisely localise these regions on a genome by comparison with the genome of another species. We showed that it markedly improves their resolution with respect to other published methods. This enables then to analyse the breakpoint sequences and their distribution along the genomes. Human breakpoints thus display several characteristics, such as the loss of similarity with related genomes and the presence of duplications and of transposable elements. Eventually, we argue that breakpoints are not randomly distributed along the genome, but instead their localisation seems to be linked with the gene organisation and the isochore landscapeLYON1-BU.Sciences (692662101) / SudocSudocFranceF