title: Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene.
abstract: The mouse dilute gene encodes a novel type of non-muscle myosin that structurally combines elements from both nonmuscle myosin type I and nonmuscle myosin type II. Phenotypically, mutations in the mouse dilute gene result not only in the lightening of coat color, but also in the onset of severe neurological defects shortly after birth. This may indicate that the mouse dilute gene is important in maintaining the normal neuronal function in the mouse. We report the isolation and sequencing of "myoxin" (MYH12), the human homologue of the mouse dilute gene, and its assignment to human chromosome 15.
authors.affiliation: Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104.
authors.forename: L J
authors.initials: LJ
authors.lastname: Engle
authors.forename: R H
authors.initials: RH
authors.lastname: Kennett
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002645:Chickens / Q000235:genetics; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D004827:Epilepsy / Q000235:genetics; D006200:Hair Color / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000276:immunology; D051379:Mice / Q000235:genetics*; D008818:Mice, Neurologic Mutants / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family; D018995:Myosin Heavy Chains; D024701:Myosin Type V; D009218:Myosins / Q000145:classification* / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000276:immunology; D010859:Pigmentation Disorders / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics / Q000276:immunology; D016415:Sequence Alignment; D017385:Sequence Homology; D013577:Syndrome
chemical_list: D007381:Intermediate Filament Proteins; C513082:Myo5a protein, mouse; D009419:Nerve Tissue Proteins; C077511:MYO5A protein, human; D024701:Myosin Type V; D018995:Myosin Heavy Chains; D009218:Myosins; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)