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Gene Review

MYO15A  -  myosin XVA

Homo sapiens

Synonyms: DFNB3, MYO15, Unconventional myosin-15, Unconventional myosin-XV
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Disease relevance of MYO15A


High impact information on MYO15A


Biological context of MYO15A


Anatomical context of MYO15A

  • In outer and inner hair cells, myosin XV protein is detectable in the cell body and stereocilia [5].
  • Recent studies have characterized the human and mouse unconventional myosin XVA, which has a role in the formation and/or maintenance of the unique actin-rich structures of inner ear sensory hair cells [2].
  • These data suggest that in neuroendocrine cells myosin XVA may have a role in secretory granule movement and/or secretion [2].
  • Most nonneuroendocrine tissues examined including liver cells were negative for myosin XVA protein and mRNA, although the distal and proximal tubules of normal kidneys showed moderate immunoreactivity for myosin XVA [2].
  • Immunostaining of adult mouse organ of Corti revealed that myosin XV protein is concentrated within the cuticular plate and stereocilia of cochlear sensory hair cells [9].

Physical interactions of MYO15A

  • Unconventional myosin-XVa is critical for formation of this bundle because it transports whirlin and perhaps other molecular components responsible for programmed elongation of stereocilia to the stereocilia tips [8].

Other interactions of MYO15A

  • A novel human myosin gene located at 17q25 was identified through evaluation of genomic DNA sequence and designated myosin XVBP since it resembled human myosin XVA [10].
  • Mutations in MYO7A and MYO15 cause deafness in humans, and mice [11].
  • Because myosin XVA is encoded by 66 exons, screening for mutations in hearing-impaired individuals is expensive and labor-intensive in comparison to a screen for mutations in GJB2 (Cx26), for example, which has only a single protein coding exon [7].
  • Myosin IIIa progressively accumulates during stereocilia maturation in a thimble-like pattern around the stereocilia tip, distinct from the cap-like localization of myosin XVa and the shaft localization of myosin Ic [12].

Analytical, diagnostic and therapeutic context of MYO15A


  1. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Liburd, N., Ghosh, M., Riazuddin, S., Naz, S., Khan, S., Ahmed, Z., Riazuddin, S., Liang, Y., Menon, P.S., Smith, T., Smith, A.C., Chen, K.S., Lupski, J.R., Wilcox, E.R., Potocki, L., Friedman, T.B. Hum. Genet. (2001) [Pubmed]
  2. Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors. Lloyd, R.V., Vidal, S., Jin, L., Zhang, S., Kovacs, K., Horvath, E., Scheithauer, B.W., Boger, E.T., Fridell, R.A., Friedman, T.B. Am. J. Pathol. (2001) [Pubmed]
  3. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Friedman, T.B., Liang, Y., Weber, J.L., Hinnant, J.T., Barber, T.D., Winata, S., Arhya, I.N., Asher, J.H. Nat. Genet. (1995) [Pubmed]
  4. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Wang, A., Liang, Y., Fridell, R.A., Probst, F.J., Wilcox, E.R., Touchman, J.W., Morton, C.C., Morell, R.J., Noben-Trauth, K., Camper, S.A., Friedman, T.B. Science (1998) [Pubmed]
  5. Unconventional myosins and the genetics of hearing loss. Friedman, T.B., Sellers, J.R., Avraham, K.B. Am. J. Med. Genet. (1999) [Pubmed]
  6. Cloning and chromosomal localization of MYO15A to chromosome 5 of the dog (Canis familiaris). Rak, S.G., Drögemüller, C., Kuiper, H., Leeb, T., Quignon, P., André, C., Distl, O. Chromosome Res. (2002) [Pubmed]
  7. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Friedman, T.B., Hinnant, J.T., Ghosh, M., Boger, E.T., Riazuddin, S., Lupski, J.R., Potocki, L., Wilcox, E.R. Adv. Otorhinolaryngol. (2002) [Pubmed]
  8. Auditory mechanotransduction in the absence of functional myosin-XVa. Stepanyan, R., Belyantseva, I.A., Griffith, A.J., Friedman, T.B., Frolenkov, G.I. J. Physiol. (Lond.) (2006) [Pubmed]
  9. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. Liang, Y., Wang, A., Belyantseva, I.A., Anderson, D.W., Probst, F.J., Barber, T.D., Miller, W., Touchman, J.W., Jin, L., Sullivan, S.L., Sellers, J.R., Camper, S.A., Lloyd, R.V., Kachar, B., Friedman, T.B., Fridell, R.A. Genomics (1999) [Pubmed]
  10. Human myosin XVBP is a transcribed pseudogene. Boger, E.T., Sellers, J.R., Friedman, T.B. J. Muscle Res. Cell. Motil. (2001) [Pubmed]
  11. The roles of unconventional myosins in hearing and deafness. Libby, R.T., Steel, K.P. Essays Biochem. (2000) [Pubmed]
  12. A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expression. Schneider, M.E., Dos??, A.C., Salles, F.T., Chang, W., Erickson, F.L., Burnside, B., Kachar, B. J. Neurosci. (2006) [Pubmed]
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