Xu Huiling, Beasley Matthew D, Warren William D, van der Horst Gijsbertus T J, McKay Michael J
Divisions of Radiation Oncology and Research, Peter MacCallum Cancer Centre, Melbourne, Victoria 8006, Australia.
Dev Cell. 2005 Jun;8(6):949-61. doi: 10.1016/j.devcel.2005.03.018.
REC8 is a key component of the meiotic cohesin complex. During meiosis, cohesin is required for the establishment and maintenance of sister-chromatid cohesion, for the formation of the synaptonemal complex, and for recombination between homologous chromosomes. We show that REC8 has an essential role in mammalian meiosis, in that Rec8 null mice of both sexes have germ cell failure and are sterile. In the absence of REC8, early chromosome pairing events appear normal, but synapsis occurs in a novel fashion: between sister chromatids. This implies that a major role for REC8 in mammalian meiosis is to limit synapsis to between homologous chromosomes. In all other eukaryotic species studied to date, REC8 phenotypes have been restricted to meiosis. Unexpectedly, Rec8 null mice are born in sub-Mendelian frequencies and fail to thrive. These findings illuminate hitherto unknown REC8 functions in chromosome dynamics during mammalian meiosis and possibly in somatic development.
REC8是减数分裂黏连蛋白复合体的关键组成部分。在减数分裂过程中,黏连蛋白对于姐妹染色单体黏连的建立和维持、联会复合体的形成以及同源染色体之间的重组都是必需的。我们发现REC8在哺乳动物减数分裂中起着至关重要的作用,因为雌雄Rec8基因敲除小鼠均出现生殖细胞衰竭且不育。在没有REC8的情况下,早期染色体配对事件看似正常,但联会以一种新的方式发生:在姐妹染色单体之间。这意味着REC8在哺乳动物减数分裂中的一个主要作用是将联会限制在同源染色体之间。在迄今为止研究的所有其他真核物种中,REC8的表型都局限于减数分裂。出乎意料的是,Rec8基因敲除小鼠以低于孟德尔遗传频率出生且生长不良。这些发现揭示了REC8在哺乳动物减数分裂期间乃至可能在体细胞发育过程中的染色体动态变化中迄今未知的功能。