Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9
نویسندگان
چکیده
منابع مشابه
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites placed the chromosome 14 candidate regi...
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Movement generated by the myosin motor is generally thought to be driven by distortion of an elastic element within the myosin molecule and subsequent release of the resulting strain. However, the location of this elastic element in myosin remains unclear. The myosin motor domain consists of four major subdomains connected by flexible joints. The SH1 helix is the joint that connects the convert...
متن کاملPLATELETS AND THROMBOPOIESIS Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A
1National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD; 2Department of Medicine, Duke University Medical Center, Durham, NC; 3Office of Research Services, Division of Veterinary Resources, 4National Eye Institute, and 5National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD; 6Medical Service, Durham Veterans Affairs Medical Cent...
متن کاملMouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
We have generated 3 mouse lines, each with a different mutation in the nonmuscle myosin II-A gene, Myh9 (R702C, D1424N, and E1841K). Each line develops MYH9-related disease similar to that found in human patients. R702C mutant human cDNA fused with green fluorescent protein was introduced into the first coding exon of Myh9, and D1424N and E1841K mutations were introduced directly into the corre...
متن کاملRod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.
MYH9-related disorders are autosomal dominant syndromes, variably affecting platelet formation, hearing, and kidney function, and result from mutations in the human nonmuscle myosin-IIA heavy chain gene. To understand the mechanisms by which mutations in the rod region disrupt nonmuscle myosin-IIA function, we examined the in vitro behavior of 4 common mutant forms of the rod (R1165C, D1424N, E...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1016/s0002-9297(07)62942-5