Ontology highlight
ABSTRACT:
SUBMITTER: Li L
PROVIDER: S-EPMC5386733 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Oncotarget 20170301 12
Acephalic spermatozoa is a very rare disorder of male infertility. Here, in a patient from from a consanguineous family, we have identified, by whole-exome sequencing, a homozygous mutation (c.G2783A, p.G928D) in the BRDT gene. The gene product, BRDT, is a testis-specific protein that is considered an important drug target for male contraception. The G928D mutation is in the P-TEFb binding domain, which mediates the interaction with transcription elongation factor and might affect the transcript ...[more]