abstract: background: the availability of testis specific genes will be of help in choosing the most promising biomarkers for the detection of testicular sperm retrieval in patients with non-obstructive azoospermia (noa). cdy1 histone acetyltransferase is a histone modifier which concentrates in the nucleus of round spermatids, where histone hyperacetylation occurs and causes the replacement of...

Background: During the first meiotic prophase, alignment and synapsis of the homologous chromosomes are mediated by the synaptonemal complex. Incorrect assembly of the synaptonemal complex leads to impaired recombination and cell death, which in humans, causes infertility in males. Testis-expressed gene 12 (TEX12) is a germ cell-specific gene that is located on the chromosome 11 (11q22) in huma...

Members of the DAZ (Deleted in AZoospermia) gene family are important players in the process of gametogenesis and their dysregulation accounts for 10% of human male infertility. Boule, the ancestor of the family, is mainly involved in male meiosis in most organisms. With the exception of Drosophila and C. elegans, nothing is known on the function of boule in non-vertebrate animals. In the prese...

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 cf...

Objectives: Almost all men with Cystic Fibrosis (CF) are infertile mainly because of congenital bilateral aplasia vas deferens, VD (CBAVD) resulted to obstructive azoospermia. Some 3849+10kbC>T variant the CFTR gene can be fertile no obstruction, however factor(s) this phenotypic variability unknown. Materials and methods: We examined 23 adult PS-CF, having gene. Semen examination, clinical, an...

Defects in human germ cell development are common and yet little is known of genes required for germ cell development in men and women. The pathways that develop germ cells appear to be conserved broadly, at least in outline, in organisms as diverse as flies and humans beginning with allocation of cells to the germ cell lineage, migration of these cells to the fetal gonad, mitotic proliferation...

Mutations in Deleted in Azoospermia (DAZ), a Y chromosome gene, are an important cause of human male infertility. DAZ is found exclusively in primates, limiting functional studies of this gene to its homologs: boule, required for meiotic progression of germ cells in invertebrate model systems, and Daz-like (Dazl), required for early germ cell maintenance in vertebrates. Dazl is believed to have...

[This corrects the article DOI: 10.1371/journal.pone.0163936.].

Background. LR family pyrin domain-containing 14 (NLRP14 or NALP14) is one of the important members NLR and was mainly expressed in testis. It reported that deficiency NALP14 gene mice can cause spermatogenic failure, several mutations have been found oligospermia infertile men. Case Presentation. This study two novel (c.2076delC: p.L697X c.T2963C: p.F988S) our patients with azoospermia. The ex...

Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy number ...