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A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

生物 核孔蛋白 遗传学 错义突变 突变 嵌合体 细胞生物学 内科学 基因 核蛋白 医学 转录因子
作者
Ariella Weinberg‐Shukron,Paul Renbaum,Rachel Kalifa,Sharon Zeligson,Ziva Ben‐Neriah,Amatzia Dreifuss,Amal Abu Rayyan,Noa Maatuk,Nilly Fardian,Dina Rekler,Moien Kanaan,Abraham O. Samson,Ephrat Levy‐Lahad,Offer Gerlitz,David Zangen
出处
期刊:Journal of Clinical Investigation [American Society for Clinical Investigation]
卷期号:125 (11): 4295-4304 被引量:96
标识
DOI:10.1172/jci83553
摘要

Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. Here, we report an extended consanguineous family of Palestinian origin, in which 4 females exhibited XX-GD. Using homozygosity mapping and whole-exome sequencing, we identified a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls. NUP107 is a component of the nuclear pore complex, and the NUP107-associated protein SEH1 is required for oogenesis in Drosophila. In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile. Transgenic rescue of Drosophila females bearing the Nup107D364N mutation, which corresponds to the human NUP107 (p.D447N), resulted in almost complete sterility, with a marked reduction in progeny, morphologically aberrant eggshells, and disintegrating egg chambers, indicating defective oogenesis. These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.
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