Testis expressed 15 is a protein that in humans is encoded by the TEX15 gene.[1]
The TEX15 gene displays testis-specific expression, maps to chromosome 8, contains four exons and encodes a 2789-amino acid protein.[2] The TEX15 gene encodes a DNA damage response factor important in meiosis.
In mice, disruption of an ortholog of the TEX15 gene caused a drastic reduction in testis size and meiotic arrest in males.[3] TEX15, in mice, is required for chromosomesynapsis, meiotic recombination and DNA double-strand break repair.[3] Furthermore, TEX15 regulates the loading of recombination proteins (RAD51 and DMC1) onto sites of DNA double-strand breaks, and its absence causes a failure of meiotic recombination.
Clinical significance
A mutation in the TEX15 gene was found to be associated with male infertility and meiotic maturation arrest.[2]
Truncation variants of TEX15 are also potential breast cancer risk factors.[4]
↑ 2.02.1Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S (October 2015). "Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family". Human Molecular Genetics. 24 (19): 5581–8. doi:10.1093/hmg/ddv290. PMID26199321.
Aston KI, Krausz C, Laface I, Ruiz-Castané E, Carrell DT (June 2010). "Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent". Human Reproduction. 25 (6): 1383–97. doi:10.1093/humrep/deq081. PMID20378615.
