title: Evolutionary breakpoint analysis on Y chromosomes of higher primates provides insight into human Y evolution.
abstract: Comparative FISH mapping of PAC clones covering almost 3 Mb of the human AZFa region in Yq11.21 to metaphases of human and great apes unravels breakpoints that were involved in species-specific Y chromosome evolution. An astonishing clustering of evolutionary breakpoints was detected in the very proximal region on the long arm of the human Y chromosome in Yq11.21. These breakpoints were involved in deletions, one specific for the human and another for the orang-utan Y chromosome, in a duplicative translocation/transposition specific for bonobo and chimpanzee Y chromosomes and in a pericentric inversion specific for the gorilla Y chromosome. In addition, our comparative results allow the deduction of a model for the human Y chromosome evolution.
authors.affiliation: Institute of Human Genetics and Anthropology, University of Freiburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Wimmer
authors.forename: S
authors.initials: S
authors.lastname: Kirsch
authors.forename: G A
authors.initials: GA
authors.lastname: Rappold
authors.forename: W
authors.initials: W
authors.lastname: Schempp
mesh_terms: D000818:Animals; D019457:Chromosome Breakage / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods; D027042:Chromosomes, Artificial, P1 Bacteriophage / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D033481:Chromosomes, Mammalian / Q000235:genetics; D019143:Evolution, Molecular; D006071:Gorilla gorilla / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008214:Lymphocytes / Q000737:chemistry / Q000166:cytology / Q000378:metabolism; D008254:Macaca nemestrina / Q000235:genetics; D008297:Male; D008677:Metaphase / Q000235:genetics; D002679:Pan troglodytes / Q000235:genetics; D011148:Pongo pygmaeus / Q000235:genetics; D011323:Primates / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics*