Biology:STRC
 Generic protein structure example |
Stereocilin is a protein that in humans is encoded by the STRC gene.[1][2][3]
The STRC gene provides instructions for creating a protein called stereocilin, named for its location outside the stereocilia cells in the inner ear. This protein is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. Stereocilia cells generate an electrical response to the vibrations of sound waves, crucial for normal hearing.
This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Impairment of the STRC gene leads to the production of a non-functional stereocilin or prevents its production altogether. Consequently, this results in instability in the structure of stereocilia, hindering their optimal response to the passage of sound waves. In the end, the hair cells fail to convert sound waves into electrical potentials, causing hearing impairment. Hence, mutations in this gene cause autosomal recessive non-syndromic deafness.[3][4]
Mutations in STRC is the most common cause of moderate bilateral hearing loss, accounting for approximately 30% of cases.[5] The prevalence of hearing loss due to alterations in the STRC gene is estimated at 1 in 1600.[6]
99% of the genetic alterations in the STRC gene associated with non-syndromic hearing loss involve large copy number variations. Often, the alteration is a large deletion on chromosome 15, including several genes, among them STRC. In some cases, this deletion includes the CATSPER2 gene, which can lead to fertility issues in males.
References
- ↑ "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus". Nature Genetics 29 (3): 345–349. November 2001. doi:10.1038/ng726. PMID 11687802.
- ↑ "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22". Journal of Medical Genetics 34 (12): 1015–1017. December 1997. doi:10.1136/jmg.34.12.1015. PMID 9429146.
- ↑ 3.0 3.1 "Entrez Gene: STRC stereocilin". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=161497.
- ↑ "Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane". The Journal of Comparative Neurology 519 (2): 194–210. February 2011. doi:10.1002/cne.22509. PMID 21165971.
- ↑ "Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss". Human Genetics 135 (4): 441–450. April 2016. doi:10.1007/s00439-016-1648-8. PMID 26969326.
- ↑ "A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents". Journal of Medical Genetics 46 (6): 412–417. June 2009. doi:10.1136/jmg.2008.063685. PMID 19246478. https://hal.archives-ouvertes.fr/hal-00552672/file/PEER_stage2_10.1136%252Fjmg.2008.063685.pdf.
Further reading
- "Hereditary deafness and phenotyping in humans". British Medical Bulletin 63: 73–94. 2002. doi:10.1093/bmb/63.1.73. PMID 12324385.
- "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature 440 (7084): 671–675. March 2006. doi:10.1038/nature04601. PMID 16572171. Bibcode: 2006Natur.440..671Z.
- "Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear". BMC Cell Biology 3. November 2002. doi:10.1186/1471-2121-3-28. PMID 12445334.
- "Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132". American Journal of Human Genetics 64 (4): 1238–1241. April 1999. doi:10.1086/302321. PMID 10090914.
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