Testis expressed 15 explained

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.

Animal studies

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 chromosome synapsis, meiotic recombination and DNA double-strand break repair. 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.

Truncation variants of TEX15 are also potential breast cancer risk factors.^[4]

Further reading

• Aston KI, Krausz C, Laface I, Ruiz-Castané E, Carrell DT . 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 . June 2010 . 20378615 . 10.1093/humrep/deq081 . free .

Notes and References

1. Web site: Entrez Gene: Testis expressed 15 .
2. Okutman 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 . Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family . Human Molecular Genetics . 24 . 19 . 5581–8 . October 2015 . 26199321 . 10.1093/hmg/ddv290 . free .
3. Yang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ . Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis . The Journal of Cell Biology . 180 . 4 . 673–9 . February 2008 . 18283110 . 2265566 . 10.1083/jcb.200709057 .
4. Mantere T, Tervasmäki A, Nurmi A, Rapakko K, Kauppila S, Tang J, Schleutker J, Kallioniemi A, Hartikainen JM, Mannermaa A, Nieminen P, Hanhisalo R, Lehto S, Suvanto M, Grip M, Jukkola-Vuorinen A, Tengström M, Auvinen P, Kvist A, Borg Å, Blomqvist C, Aittomäki K, Greenberg RA, Winqvist R, Nevanlinna H, Pylkäs K . Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility . Scientific Reports . 7 . 1 . 681 . April 2017 . 28386063 . 5429682 . 10.1038/s41598-017-00766-9 . 2017NatSR...7..681M .