Ontology highlight
ABSTRACT:
SUBMITTER: Yang F
PROVIDER: S-EPMC4568952 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Yang Fang F Silber Sherman S Leu N Adrian NA Oates Robert D RD Marszalek Janet D JD Skaletsky Helen H Brown Laura G LG Rozen Steve S Page David C DC Wang P Jeremy PJ
EMBO molecular medicine 20150901 9
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 infertile men reveals that TEX11 mutations, including frameshift and splicing acceptor site mutations, cause ...[more]