Ontology highlight
ABSTRACT:
ORGANISM(S): Mus Musculus
SUBMITTER: Suren Chen
PROVIDER: PXD042162 | iProX | Thu May 11 00:00:00 BST 2023
REPOSITORIES: iProX
Journal of cellular and molecular medicine 20240901 18
Oligo-astheno-teratozoospermia (OAT) is a common cause of male infertility, but the genetic basis of most OAT cases is still unknown. Here, one homozygous loss-of-function (LOF) variant in TDRD6, c.G1825T/p.Gly609X, was identified in an infertile patient with severe OAT by whole-exome sequencing (WES) and Sanger confirmation. Furthermore, Tdrd6-mutant mice (p.Gly615X; equivalent to p.Gly609X in human TDRD6) were generated. Remarkably, the Tdrd6-mutated mice mimicked the severe OAT symptoms of th ...[more]