Function of TEX11 and its Associated Proteins in Mice

目前应用的长期目标是研究小鼠减数分裂的调节。异常 减数分裂是导致人类出生缺陷和不孕的主要原因。对小鼠的基因组研究表明， X染色体丰富了与早期精子发生有关的基因。当前的应用程序是 研究小鼠X连锁睾丸特异基因产物TEX11在两性减数分裂中的作用。TEX11 蛋白质在老鼠和人类体内都是保守的。我们的具体目标是：1)鉴定减数分裂中的缺陷 TEX11基因缺陷男性的重组和染色体突触；2)研究TEX11在 卵母细胞非整倍体与胚胎死亡；3)研究TEX11在减数分裂重组中的作用。 联会复合体。我们建议的遗传、细胞和分子生物学研究将有助于揭示 TEX11调控两性减数分裂的机制。我们的研究还将提供 X连锁男性不育和出生缺陷(三体和单体)的分子病因学研究 人类。

The long-term objective of the current application is to study the regulation of meiosis in mice. Abnormality in meiosis is a leading cause of birth defects and infertility in humans. Genomics studies in mice showed that the X chromosome is enriched for genes involved in early spermatogenesis. The current application is to study the role of a mouse X-linked testis-specific gene product, TEX11, in meiosis of both sexes. The TEX11 protein is conserved in mice and humans. Our specific aims are: 1) To characterize defects in meiotic recombination and chromosomal synapsis in TEX11-deficient males; 2) To investigate the role of TEX11 in oocyte aneuploidy and embryo death; 3) To study the role of TEX11 in linking meiotic recombination with the synaptonemal complex. Our proposed genetic, cell and molecular biological studies will help to uncover the mechanism underlying the regulation of meiosis in both sexes by TEX11. Our research will also provide insight into the molecular etiology of X-linked male infertility and birth defects (trisomy and monosomy) in humans.