X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
نویسندگان
چکیده
منابع مشابه
Words 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 کاملTEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse
Genome-wide recombination is essential for genome stability, evolution, and speciation. Mouse Tex11, an X-linked meiosis-specific gene, promotes meiotic recombination and chromosomal synapsis. Here, we report that TEX11 is mutated in infertile men with non-obstructive azoospermia and that an analogous mutation in the mouse impairs meiosis. Genetic screening of a large cohort of idiopathic infer...
متن کاملIncreased frequency of mutations in DNA from infertile men with meiotic arrest.
In diverse organisms from yeast to mice, mutations in numerous genes required for DNA repair may lead to defects in meiosis. Although it is likely that meiosis is conserved throughout evolution, little is known about the genetics of meiosis in humans even though meiotic arrest associated with azoospermia is common. In this work, we compared the sequence fidelity of a polymorphic marker amplifie...
متن کاملScreening of two closed mutations in CFTR gene of Iranian infertile men with non-obstructive azoospermia
Background The genetic association between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and male infertility due to congenital bilateral absence of vas deferens (CBAVD) is well established. Mutant CFTR, however may also be involved in the etiology of male infertility in non-CBAVD cases. The present study was conducted to estimate the frequency of ΔI507 and ΔF508 CFT...
متن کاملNovel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men
BACKGROUND The Deleted-in-AZoospermia-Like (DAZL) gene has homologs required for germ cell development in many organisms. Recently, we showed that there are several common polymorphisms within the DAZL gene that are associated with age at ovarian failure/menopause and sperm count. METHODS Here we sought to identify rare mutations in DAZL and examine their phenotypes in men and women. We seque...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2015
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1406192