XRCC2 mutation causes meiotic arrest, azoospermia and infertility
نویسندگان
چکیده
منابع مشابه
Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression
Mouse Ikbkap gene encodes IKAP--one of the core subunits of Elongator--and is thought to be involved in transcription. However, the biological function of IKAP, particularly within the context of an animal model, remains poorly characterized. We used a loss-of-function approach in mice to demonstrate that Ikbkap is essential for meiosis during spermatogenesis. Absence of Ikbkap results in defec...
متن کاملWords of Wisdom. Re: X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men.
BACKGROUND The genetic basis of nonobstructive azoospermia is unknown in the majority of infertile men. METHODS We performed array comparative genomic hybridization testing in blood samples obtained from 15 patients with azoospermia, and we performed mutation screening by means of direct Sanger sequencing of the testis-expressed 11 gene (TEX11) open reading frame in blood and semen samples ob...
متن کاملSPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these f...
متن کاملI-6: Azoospermia Factor in Male Infertility
Background The human Y chromosome is essential for human sex determination and male germ cell development and maintenance. In 1996, Vogt et al. identified three recurrently deleted regions in Yq11 termed the azoospermia factor (AZF). The AZF region is subdivided into three non-overlapping sub-regions called AZFa, AZFb and AZFc and microdeletion in these regions is the most important etiology of...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2018
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2017-105145