Testis expressed 15

TEX15
Identifiers
Aliases	TEX15 , CT42, testis expressed 15, testis expressed 15, meiosis and synapsis associated, SPGF25
External IDs	OMIM: 605795; MGI: 1934816; HomoloGene: 12837; GeneCards: TEX15; OMA:TEX15 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p12 Start 30,831,544 bp [1] End 30,913,008 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 A4 Start 34,006,766 bp [2] End 34,075,610 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle sperm secondary oocyte gonad right testis left testis body of uterus smooth muscle tissue ventricular zone ganglionic eminence Top expressed in spermatid lacrimal gland parotid gland cumulus cell Gonadal ridge seminiferous tubule zygote olfactory epithelium secondary oocyte primary oocyte More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 56154 104271 Ensembl ENSG00000133863 ENSMUSG00000009628 UniProt Q9BXT5 F8VPN2 RefSeq (mRNA) NM_001350162 NM_031374 RefSeq (protein) NP_001337091 NP_113551 Location (UCSC) Chr 8: 30.83 – 30.91 Mb Chr 8: 34.01 – 34.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Testis expressed 15 is a protein that in humans is encoded by the TEX15 gene. ^[5]

The TEX15 gene displays testis-specific expression, maps to chromosome 8, contains four exons and encodes a 2789-amino acid protein. ^[6] The TEX15 gene encodes a DNA damage response factor important in meiosis. TEX15 is also a nuclear effector of the mammalian piRNA pathway, required for silencing of transposable elements within the developing germline. ^[7]

Animal studies

In mice, disruption of an ortholog of the TEX15 gene caused a drastic reduction in testis size and meiotic arrest in males. ^[8] TEX15, in mice, is required for chromosome synapsis, meiotic recombination and DNA double-strand break repair. ^[8] 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. ^[6]

Truncation variants of TEX15 are also potential breast cancer risk factors. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000133863 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000009628 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Testis expressed 15".
6. 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 (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 . PMID   26199321.
7. Schöpp T, Zoch A, Berrens RV, Auchynnikava T, Kabayama Y, Vasiliauskaitė L, Rappsilber J, Allshire RC, O'Carroll D (July 2020). "TEX15 is an essential executor of MIWI2-directed transposon DNA methylation and silencing". Nature Communications. 11 (1): 3739. doi: 10.1038/s41467-020-17372-5 . PMID   32620888.
8. Yang F, Eckardt S, Leu NA, McLaughlin KJ, Wang PJ (February 2008). "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. doi:10.1083/jcb.200709057. PMC   2265566 . PMID   18283110.
9. 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 (April 2017). "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. Bibcode:2017NatSR...7..681M. doi:10.1038/s41598-017-00766-9. PMC   5429682 . PMID   28386063.

Further reading

• 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" (PDF). Human Reproduction. 25 (6): 1383–97. doi: 10.1093/humrep/deq081 . PMID   20378615.