Gläser B, Grützner F, Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W
Institute of Human Genetics and Anthropology, University of Freiburg, Germany.
Chromosome Res. 1997 May;5(3):167-76. doi: 10.1023/a:1018490713273.
Several genes located within or proximal to the human PAR in Xp22 have homologues on the Y chromosome and escape, or partly escape, inactivation. To study the evolution of Xp22 genes and their Y homologues, we applied multicolour fluorescence in situ hybridization (FISH) to comparatively map DNA probes for the genes ANT3, XG, ARSD, ARSE (CDPX), PRK, STS, KAL and AMEL to prometaphase chromosomes of the human species and hominoid apes. We demonstrate that the genes residing proximal to the PAR have a highly conserved order on the higher primate X chromosomes but show considerable rearrangements on the Y chromosomes of hominoids. These rearrangements cannot be traced back to a simple model involving only a single or a few evolutionary events. The linear instability of the Y chromosomes gives some insight into the evolutionary isolation of large parts of the Y chromosomes and thus might reflect the isolated evolutionary history of the primate species over millions of years.
位于人类X染色体短臂22区(Xp22)的人类假常染色体区域(PAR)内或其近端的几个基因在Y染色体上有同源物,并且逃避或部分逃避失活。为了研究Xp22基因及其Y染色体同源物的进化,我们应用多色荧光原位杂交(FISH)技术,将ANT3、XG、ARSD、ARSE(CDPX)、PRK、STS、KAL和AMEL等基因的DNA探针相对定位到人类和类人猿中期染色体上。我们证明,位于PAR近端的基因在高等灵长类动物的X染色体上具有高度保守的顺序,但在类人猿的Y染色体上则显示出相当大的重排。这些重排不能追溯到仅涉及单个或少数进化事件的简单模型。Y染色体的线性不稳定性为深入了解Y染色体大部分区域的进化隔离提供了一些线索,因此可能反映了灵长类物种数百万年来孤立的进化历史。