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Protein-coding gene in the species Homo sapiens
Unconventional myosin-XV is a protein that in humans is encoded by the MYO15A gene .[ 5] [ 6]
Gene
Read-through transcript containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein . Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined.[ 6]
Function
This gene encodes an unconventional myosin . This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea .[ 6]
Clinical significance
Mutations in this gene have been associated with profound, congenital , neurosensory , nonsyndromic deafness .[ 7] Smith–Magenis syndrome region on chromosome 17.[ 6]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000091536 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042678 – 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 .^ Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3" . Science . 280 (5368): 1447–51. Bibcode :1998Sci...280.1447W . doi :10.1126/science.280.5368.1447 . PMID 9603736 . ^ a b c d "Entrez Gene: MYO15A myosin XVA" .^ Riahi, Z; Bonnet, C; Zainine, R; Louha, M; Bouyacoub, Y; Laroussi, N; Chargui, M; Kefi, R; Jonard, L; Dorboz, I; Hardelin, J. P.; Salah, S. B.; Levilliers, J; Weil, D; McElreavey, K; Boespflug, O. T.; 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
Kalay E, Uzumcu A, Krieger E, et al. (2007). "MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation". Am. J. Med. Genet. A . 143 (20): 2382–9. doi :10.1002/ajmg.a.31937 . PMID 17853461 . S2CID 26797020 . Nal N, Ahmed ZM, Erkal E, et al. (2007). "Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing" . Hum. Mutat . 28 (10): 1014–9. doi :10.1002/humu.20556 . PMID 17546645 . S2CID 27597330 . La Rosa S, Capella C, Lloyd RV (2002). "Localization of myosin XVA in endocrine tumors of gut and pancreas". Endocr. Pathol . 13 (1): 29–37. doi :10.1385/EP:13:1:29 . PMID 12114748 . S2CID 20356974 . Bi W, Yan J, Stankiewicz P, et al. (2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse" . Genome Res . 12 (5): 713–28. doi :10.1101/gr.73702 . PMC 186594 PMID 11997338 . Liburd N, Ghosh M, Riazuddin S, et al. (2001). "Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome" . Hum. Genet . 109 (5): 535–41. doi :10.1007/s004390100604 . PMID 11735029 . S2CID 20812371 . Lloyd RV, Vidal S, Jin L, et al. (2001). "Myosin XVA Expression in the Pituitary and in Other Neuroendocrine Tissues and Tumors" . Am. J. Pathol . 159 (4): 1375–82. doi :10.1016/S0002-9440(10)62524-2 . PMC 1850513 PMID 11583965 . Anderson DW, Probst FJ, Belyantseva IA, et al. (2000). "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells" . Hum. Mol. Genet . 9 (12): 1729–38. doi :10.1093/hmg/9.12.1729 PMID 10915760 . Liang Y, Wang A, Belyantseva IA, et al. (2000). "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2" . Genomics . 61 (3): 243–58. doi :10.1006/geno.1999.5976 . PMID 10552926 . Friedman TB, Liang Y, Weber JL, et al. (1995). "A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17". Nat. Genet . 9 (1): 86–91. doi :10.1038/ng0195-86 . PMID 7704031 . S2CID 33397422 .
