Function of TEX11 and its Associated Proteins in Mice

本申请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育的主要原因。对小鼠的基因组学研究表明， X染色体富含与早期精子发生有关的基因。目前的应用是 研究小鼠X连锁睾丸特异性基因产物TEX 11在两性减数分裂中的作用。TEX11 蛋白质在小鼠和人类中是保守的。我们的具体目标是：1）鉴定减数分裂缺陷 TEX 11基因缺陷的男性中的重组和染色体突触; 2）研究TEX 11在 研究TEX 11基因在减数分裂重组与胚胎死亡之间的作用。 联会复合体我们提出的遗传、细胞和分子生物学研究将有助于揭示 TEX 11调控两性减数分裂的潜在机制。我们的研究还将提供 深入了解X连锁男性不育和出生缺陷（三体和单体）的分子病因学， 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.