A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure:: Evidence for conserved function in oogenesis and implications for human sterility
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure:: Evidence for conserved function in oogenesis and implications for human sterility
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DOI：
10.1086/301761
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发表时间：
1998-03-01
影响因子：
9.8
通讯作者：
Toniolo, D
中科院分区：
文献类型：
--
作者：
Bione, S;Sala, C;Toniolo, D
卵巢早衰（POF）是卵巢发育的缺陷，其特征是原发性或继发性闭经，血清促性腺激素水平升高，或绝经早。这种疾病被归因于各种原因，包括X染色体长臂中一个大的“关键区域”的重排。在这里，我们报告鉴定，在一个家庭与POF，基因被破坏的断点。该基因是果蝇透明基因的人类同源物;该基因的突变等位基因影响精子发生或卵子发生并导致不育。由人类基因（DIA）编码的蛋白质（DIA）是不断增长的FH 1/FH 2蛋白家族的第一个人类成员。该蛋白质家族的成员影响细胞质分裂和其他肌动蛋白介导的形态发生过程，这些过程在发育的早期阶段是必需的。我们认为人类DLA基因是POF的基因之一，它影响细胞分裂，导致卵泡形成。
Premature ovarian failure (POF) is a defect of ovarian development and is characterized by primary or secondary amenorrhea, with elevated levels of serum gonadotropins, or by early menopause. The disorder has been attributed to various causes, including rearrangements of a large "critical region" in the long arm of the X chromosome. Here we report identification, in a family with POF, of a gene that is disrupted by a breakpoint. The gene is the human homologue of the Drosophila melanogaster diaphanous gene; mutated alleles of this gene affect spermatogenesis or oogenesis and lead to sterility. The protein (DIA) encoded by the human gene (DIA) is the first human member of the growing FH1/FH2 protein family. Members of this protein family affect cytokinesis and other actin-mediated morphogenetic processes that are required in early steps of development. We propose that the human DLA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.