NEMP家族维持后生动物的生育能力和核膜硬度。
The NEMP family supports metazoan fertility and nuclear envelope stiffness.
作者信息
Tsatskis Yonit, Rosenfeld Robyn, Pearson Joel D, Boswell Curtis, Qu Yi, Kim Kyunga, Fabian Lacramioara, Mohammad Ariz, Wang Xian, Robson Michael I, Krchma Karen, Wu Jun, Gonçalves João, Hodzic Didier, Wu Shu, Potter Daniel, Pelletier Laurence, Dunham Wade H, Gingras Anne-Claude, Sun Yu, Meng Jin, Godt Dorothea, Schedl Tim, Ciruna Brian, Choi Kyunghee, Perry John R B, Bremner Rod, Schirmer Eric C, Brill Julie A, Jurisicova Andrea, McNeill Helen
机构信息
Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON M5G 1X5, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
出版信息
Sci Adv. 2020 Aug 28;6(35):eabb4591. doi: 10.1126/sciadv.abb4591. eCollection 2020 Aug.
Human genome-wide association studies have linked single-nucleotide polymorphisms (SNPs) in () with early menopause; however, it is unclear whether NEMP1 has any role in fertility. We show that whole-animal loss of NEMP1 homologs in , , zebrafish, and mice leads to sterility or early loss of fertility. Loss of Nemp leads to nuclear shaping defects, most prominently in the germ line. Biochemical, biophysical, and genetic studies reveal that NEMP proteins support the mechanical stiffness of the germline nuclear envelope via formation of a NEMP-EMERIN complex. These data indicate that the germline nuclear envelope has specialized mechanical properties and that NEMP proteins play essential and conserved roles in fertility.
人类全基因组关联研究已将（）中的单核苷酸多态性（SNP）与早发性绝经联系起来；然而，尚不清楚NEMP1在生育中是否起作用。我们发现，在秀丽隐杆线虫、果蝇、斑马鱼和小鼠中，NEMP1同源物的全动物缺失会导致不育或生育能力过早丧失。Nemp的缺失会导致核形态缺陷，在生殖系中最为明显。生化、生物物理和遗传学研究表明，NEMP蛋白通过形成NEMP-EMERIN复合物来支持生殖系核膜的机械硬度。这些数据表明，生殖系核膜具有特殊的机械特性，并且NEMP蛋白在生育中发挥着重要且保守的作用。
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