Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Nature Genetics

Volumn 30, Issue 3, 2002, Pages 277-284

  Kurima, Kiyoto ^a   Peters, Linda M ^a   Yang, Yandan ^a   Riazuddin, Saima ^a   Ahmed, Zubair M ^a,b   Naz, Sadaf ^a   Arnaud, Deidre ^c   Drury, Stacy ^c   Mo, Jianhong ^a   Makishima, Tomoko ^a   Ghosh, Manju ^d   Menon, P S N ^d   Deshmukh, Dilip ^e   Oddoux, Carole ^f   Ostrer, Harry ^f   Khan, Shaheen ^b   Riazuddin, Sheikh ^b   Deininger, Prescott L ^g   Hampton, Lori L ^h   Sullivan, Susan L ⁱ   Battey, James F ^h   Keats, Bronya J B ^c   Wilcox, Edward R ^a   Friedman, Thomas B ^a   Griffith, Andrew J ^a   more..

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^e Rotary Deaf School   (India)

^f NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g TULANE UNIVERSITY   (United States)

^h NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

ⁱ NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; AUDITORY RESPONSE; AUTOSOMAL DOMINANT DISORDER; CELL DEGENERATION; CHROMOSOME 20P; CHROMOSOME 9Q; COCHLEA; DIAGNOSTIC APPROACH ROUTE; DN GENE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HAIR CELL; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; MOLECULAR CLONING; MOLECULAR MECHANICS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POSTNATAL DEVELOPMENT; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; TMC1 GENE; TMC2 GENE; VESTIBULAR FUNCTION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DEAFNESS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HAIR CELLS; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA;

EID: 0036510053     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng842     Document Type: Article

References (36)

1. The nature of inherited deafness in deafness mice
2. Inner ear pathology in the deafness mutant mouse
3. Can you still see the cochlea for the molecules?
4. Making sense out of sound
5. Molecular basis of mechanosensory transduction
6. Mutations of the protocadherin gene PCDH 15 cause Usher syndrome type 1F
7. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
8. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
9. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
10. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB 16 locus
11. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
12. A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus
13. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
14. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
15. Statistical analysis of the 5′ untranslated region of human mRNA using "Oligo-Capped" cDNA libraries
16. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs
17. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
18. The deafness locus (dn) maps to mouse chromosome 19
19. Evaluation of methods for the prediction of membrane spanning regions
20. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites
21. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
22. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
23. Expression and localization of prestin and the sugar transporter GLUT-5 during development of electromotility in cochlear outer hair cells
24. The mouse deafness locus (dn) is associated with an inversion on chromosome 19
25. Beethoven, a mouse model for dominant progressive hearing loss DFNA36
26. The TRP ion channel family
27. Low intensities and 1.3 ratio produce distortion product otoacoustic emissions which are farger in heterozygous (+/dn) than homozygous (+/+) mice
28. A new gene for deafness in the mouse
29. Tailchaser (Tlc): A new mouse mutation affecting hair bundle differentiation and hair cell survival
30. Sequence complexity of disordered protein
31. Early degeneration of sensory and ganglion cells in the inner ear of mice with uncomplicated genetic deafness (dn): Preliminary observations
32. Sensitivity, polarity, and conductance change in the response of vertebrate hair cells to controlled mechanical stimuli
33. Auditory hair cell precursors immortalized from the mammalian inner ear
34. The sequence of the human genome
35. Information coding in the olfactory system: Evidence for a stereotyped and highly organized epitope map in the olfactory bulb
36. Transcripts of alpha-cardiac and alpha-skeletal actins are early markers for myogenesis in the mouse embryo