Myosins and deafness.
The discovery in the past few years of a huge diversity within the myosin superfamily has been coupled with an understanding of the role of these motor proteins in various cellular functions. Extensive studies have revealed that myosin isoforms are not only involved in muscle contraction but also in crucial functions of many specialized mammalian cells such as melanocytes, kidney and intestinal brush border microvilli, nerve growth cones or inner ear hair cells. A search for genes involved in the pathology of human genetic deafness resulted in identification of three novel myosins: myosin VI, myosin VIIA and, very recently, myosin XV. The structure, tissue and cellular distribution of these myosin isoforms, as well as mutations detected within their genes that have been found to affect the hearing process, are described in this review.
Redowicz
M J
MJ
Department of Muscle Biochemistry, Nencki Institute of Experimental Biology, Warsaw, Poland. jolanta@nencki.gov.pl
D000818:Animals; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology*; D004398:Dyneins; D006801:Humans; D051379:Mice; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics
C485245:MYO15A protein, human; C000631455:MYO7A protein, human; C114013:Myo15 protein, mouse; C000631456:Myo7a protein, mouse; D000081412:Myosin VIIa; C089785:myosin VI; D018995:Myosin Heavy Chains; D009218:Myosins; D004398:Dyneins