Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
Myosin I isozymes have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Unconventional myosins were among the first family of proteins found to be associated with hearing loss in both humans and mice. Here, we report the identification of a nonsense mutation, of a trinucleotide insertion leading to an addition of an amino acid, and of six missense mutations in MYO1A cDNA sequence in a group of hearing-impaired patients from Italy. MYO1A, which is located within the DFNA48 locus, is the first myosin I family member found to be involved in causing deafness and may be a major contributor to autosomal dominant-hearing loss.
Donaudy
Francesca
F
Telethon Institute of Genetics and Medicine, Naples, Italy.
Ferrara
Antonella
A
Esposito
Laura
L
Hertzano
Ronna
R
Ben-David
Orit
O
Bell
Rachel E
RE
Melchionda
Salvatore
S
Zelante
Leopoldo
L
Avraham
Karen B
KB
Gasparini
Paolo
P
D019943:Amino Acid Substitution; D000818:Animals; D002148:Calmodulin-Binding Proteins; D002648:Child; D003051:Cochlea / Q000378:metabolism*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D008958:Models, Molecular; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D024461:Myosin Type I
D002148:Calmodulin-Binding Proteins; D018389:Codon, Nonsense; C062291:MYO1A protein, human; C491827:Myo1a protein, mouse; D024461:Myosin Type I; D018995:Myosin Heavy Chains