@article{229f3e001c3a4af9aa8005eaf40902b2,
title = "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function",
abstract = "Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13-21 in a region overlapping the DFNB7/B11 locus for recessive deafness. We identified eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), in a DFNA36 family and eleven DFNB7/B11 families. We detected a 1.6-kb genomic deletion encompassing exon 14 of Tmc1 in the recessive deafness (dn) mouse mutant, which lacks auditory responses and has hair-cell degeneration 1, 2. TMO and TMC2 on chromosome 20p13 are members of a gene family predicted to encode transmembrane proteins. Tmc1 mRNA is expressed in hair cells of the postnatal mouse cochlea and vestibular end organs and is reqired for normal function of cochlear hair cells.",
author = "Kiyoto Kurima and Peters, {Linda M.} and Yandan Yang and Saima Riazuddin and Ahmed, {Zubair M.} and Sadaf Naz and Deidre Arnaud and Stacy Drury and Jianhong Mo and Tomoko Makishima and Manju Ghosh and Menon, {P. S.N.} and Dilip Deshmukh and Carole Oddoux and Harry Ostrer and Shaheen Khan and Sheikh Riazuddin and Deininger, {Prescott L.} and Hampton, {Lori L.} and Sullivan, {Susan L.} and Battey, {James F.} and Keats, {Bronya J.B.} and Wilcox, {Edward R.} and Friedman, {Thomas B.} and Griffith, {Andrew J.}",
note = "Funding Information: We thank the study families for their participation, L. Davis, S.S. Ng, and B. Ploplis for technical assistance; D. Wu, T. Picton, R. Morell, M. Kelley, S. Vreugde and P. Lanford for assistance and advice; C. Morton for providing human fetal cochlear RNA; and P. Steinbach and members of the LMG for helpful discussions. This research was supported by NIDCD/NIH intramural funds from the National Institutes of Health–National Institute on Deafness and Other Communication Disorders (to J.F.B., T.B.F. and A.J.G.).",
year = "2002",
month = mar,
doi = "10.1038/ng842",
language = "English (US)",
volume = "30",
pages = "277--284",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}