Arlt Martin F, Brogley Michele A, Stark-Dykema Evan R, Hu Yueh-Chiang, Mueller Jacob L
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI.
Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH.
G3 (Bethesda). 2020 Jun 1;10(6):1997-2005. doi: 10.1534/g3.120.401221.
Mouse sex chromosomes are enriched for co-amplified gene families, present in tens to hundreds of copies. Co-amplification of / on the X chromosome and on the Y chromosome are involved in dose-dependent meiotic drive, however the role of other co-amplified genes remains poorly understood. Here we demonstrate that the co-amplified gene family on the X chromosome, , along with two additional partial gene annotations, is actually part of a larger transcription unit, which we name is harbored in a 229 kb amplicon that represents the ancestral state as compared to a 525 kb Y-amplicon containing the rearranged contains a 25,011 nucleotide open reading frame, predominantly expressed in round spermatids, predicted to encode an 871 kD protein. has orthologous copies with the rat and also the 825-MY diverged parasitic Chinese liver fluke, , the likely result of a horizontal gene transfer of rodent to an ancestor of the liver fluke. To assess the male reproductive functions of , we generated mice carrying a multi-megabase deletion of the -ampliconic region. -deficient male mice do not show detectable reproductive defects in fertility, fecundity, testis histology, and offspring sex ratio. We speculate that and represent a now inactive X Y chromosome conflict that occurred in an ancestor of present day mice.
小鼠性染色体富含共同扩增的基因家族,其拷贝数从数十个到数百个不等。X染色体和Y染色体上的共同扩增参与剂量依赖性减数分裂驱动,然而其他共同扩增基因的作用仍知之甚少。在这里,我们证明X染色体上共同扩增的基因家族,以及另外两个部分基因注释,实际上是一个更大转录单元的一部分,我们将其命名为 位于一个229 kb的扩增子中,与包含重排的525 kb Y扩增子相比,该扩增子代表祖先状态 包含一个25,011个核苷酸的开放阅读框,主要在圆形精子细胞中表达,预计编码一种871 kD的蛋白质。 与大鼠以及8.25亿年前分化的寄生中国肝吸虫 具有直系同源拷贝,这可能是啮齿动物 水平基因转移到肝吸虫祖先的结果。为了评估 的雄性生殖功能,我们生成了携带 -扩增子区域多兆碱基缺失的小鼠。 -缺陷雄性小鼠在生育力、繁殖力、睾丸组织学和后代性别比例方面未表现出可检测到的生殖缺陷。我们推测 和 代表了现今小鼠祖先中发生的一种现已不活跃的X - Y染色体冲突。