Biology:Testis expressed 15
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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.[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]
References
- ↑ "Entrez Gene: Testis expressed 15". https://www.ncbi.nlm.nih.gov/gene/56154.
- ↑ 2.0 2.1 "Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family". Human Molecular Genetics 24 (19): 5581–8. October 2015. doi:10.1093/hmg/ddv290. PMID 26199321.
- ↑ 3.0 3.1 "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. doi:10.1083/jcb.200709057. PMID 18283110.
- ↑ "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. doi:10.1038/s41598-017-00766-9. PMID 28386063. Bibcode: 2017NatSR...7..681M.
Further reading
- "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. doi:10.1093/humrep/deq081. PMID 20378615. https://flore.unifi.it/bitstream/2158/394666/1/394666Astonkrausz2010.pdf.
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