LRTOMT
Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene.[5]
Clinical significance
Mutations in LRTOMT are associated to non syndromic deafness.[6]
Function
This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene.
References
- GRCh38: Ensembl release 89: ENSG00000184154 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000078630 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Leucine rich transmembrane and O-methyltransferase domain containing".
- Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C (2014). "Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness". PLOS ONE. 9 (6): e99797. Bibcode:2014PLoSO...999797R. doi:10.1371/journal.pone.0099797. PMC 4057390. PMID 24926664.
Further reading
- Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S (February 2007). "Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3". Human Genetics. 120 (6): 789–93. doi:10.1007/s00439-006-0275-1. PMID 17066295. S2CID 7605808.
- Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H (April 2007). "A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4". Journal of Molecular Medicine. 85 (4): 397–404. doi:10.1007/s00109-006-0136-3. PMID 17211611. S2CID 8251351.
- Shearer, A. E.; Hildebrand, M. S.; Smith RJH; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Deafness and Hereditary Hearing Loss Overview". PMID 20301607. Cite journal requires
|journal=(help) - Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G (August 2011). "A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame". American Journal of Medical Genetics. Part A. 155A (8): 2021–3. doi:10.1002/ajmg.a.34096. PMID 21739586. S2CID 31294653.
- Charif M, Bounaceur S, Abidi O, Nahili H, Rouba H, Kandil M, Boulouiz R, Barakat A (December 2012). "The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population". Molecular Biology Reports. 39 (12): 11011–6. doi:10.1007/s11033-012-2003-3. PMID 23053991. S2CID 6654005.
- Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H (March 2007). "Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4". Annals of Human Genetics. 71 (Pt 2): 271–5. doi:10.1111/j.1469-1809.2006.00337.x. PMID 17166180. S2CID 20966112.
- Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B (September 2008). "A catechol-O-methyltransferase that is essential for auditory function in mice and humans". Proceedings of the National Academy of Sciences of the United States of America. 105 (38): 14609–14. Bibcode:2008PNAS..10514609D. doi:10.1073/pnas.0807219105. PMC 2567147. PMID 18794526.
- Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H (November 2008). "Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans". Nature Genetics. 40 (11): 1335–40. doi:10.1038/ng.245. PMC 3404732. PMID 18953341.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.