Molecular Biology Program Developmental Biology Program Howard Hughes Medical Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Ann N Y Acad Sci. 2012 Sep;1267:18-23. doi: 10.1111/j.1749-6632.2012.06593.x.
Sex chromosomes are the Achilles' heel of male meiosis in mammals. Mis-segregation of the X and Y chromosomes leads to sex chromosome aneuploidies, with clinical outcomes such as infertility and Klinefelter syndrome. Successful meiotic divisions require that all chromosomes find their homologous partner and achieve recombination and pairing. Sex chromosomes in males of many species have only a small region of homology (the pseudoautosomal region, PAR) that enables pairing. Until recently, little was known about the dynamics of recombination and pairing within mammalian X and Y PARs. Here, we review our recent findings on PAR behavior in mouse meiosis. We uncovered unexpected differences between autosomal chromosomes and the X-Y chromosome pair, namely that PAR recombination and pairing occurs later, and is under different genetic control. These findings imply that spermatocytes have evolved distinct strategies that ensure successful X-Y recombination and chromosome segregation.
性染色体是哺乳动物减数分裂的阿喀琉斯之踵。X 和 Y 染色体的错误分离导致性染色体非整倍体,其临床后果包括不育和克莱恩费尔特综合征。成功的减数分裂需要所有染色体找到同源伴侣,并实现重组和配对。许多物种的雄性性染色体只有一小段同源区域(假常染色体区,PAR)能够配对。直到最近,人们对哺乳动物 X 和 Y PAR 内重组和配对的动态还知之甚少。在这里,我们回顾了我们最近在小鼠减数分裂中关于 PAR 行为的发现。我们发现了常染色体和 X-Y 染色体对之间出人意料的差异,即 PAR 重组和配对发生得更晚,并且受到不同的遗传控制。这些发现表明,精母细胞已经进化出了独特的策略,以确保 X-Y 重组和染色体分离的成功。