Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6

Human Molecular Genetics

Volumn 11, Issue 16, 2002, Pages 1887-1898

  Mitchem, Kristina L ^a   Hibbard, Ellen ^a   Beyer, Lisa A ^a   Bosom, Ken ^b   Dootz, Gary A ^a   Dolan, David F ^a   Johnson, Kenneth R ^b   Raphael, Yehoash ^a   Kohrman, David C ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENE PRODUCT; MEMBRANE PROTEIN; PROTEIN TMIE; SIGNAL PEPTIDE; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; TMIE PROTEIN, HUMAN;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL STRUCTURE; COCHLEA; CONTROLLED STUDY; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC TRANSCRIPTION; HAIR CELL; HEARING LOSS; INNER EAR; MOLECULAR CLONING; MOUSE; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SENSORY NERVE CELL; SEQUENCE HOMOLOGY; SOUND TRANSMISSION; STEREOCILIUM; AMINO ACID SEQUENCE; ANIMAL; C57BL MOUSE; CHROMOSOME MAP; CONGENITAL MALFORMATION; DISEASE MODEL; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MOUSE MUTANT; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SCANNING ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ANIMALIA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; FEMALE; HAIR CELLS; HEARING LOSS; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROSCOPY, ELECTRON, SCANNING; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0036667988     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.16.1887     Document Type: Article

References (51)

1. Genetic epidemiology of hearing impairment
2. Newborn hearing screening: The great omission
3. Molecular genetics of hearing loss
4. At the speed of sound: Gene discovery in the auditory system
5. Genomics and hearing impairment
6. The role of mouse mutants in the identification of human hereditary hearing loss genes
7. A genetic approach to understanding auditory function
8. The spinner mouse
9. Human/mouse homology relationships
10. An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6
11. Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities
12. Regional localization of the human EGF-like growth factor CRIPTO gene (TDGF-1) to chromosome 3p2l
13. Chromosome mapping of human CDC25A and CDC25B phosphatases
14. Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4)
15. Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: Chromosomal assignment of the gene in the human, mouse, and rat genomes
16. Human and mouse chromosomal mapping of Stac, a neuron-specific protein with an SH3 domain
17. Crystal structure of the Dbl and pleckstrin homology domains from the human Son of sevenless protein
18. Predicting transmembrane protein topology with a hidden Markov model: Application to complete genomes
19. Mechanoelectrical transduction by hair cells
20. Developmental morphology of the mouse inner ear. A scanning electron microscopic observation
21. Mutations in a novel gene TMIE are associated with hearing loss at the DFNB6 locus
22. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
23. Role of myosin VI in the differentiation of cochlear hair cells
24. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
25. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type ID
26. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
27. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer
28. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice
29. Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha8betal
30. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins
31. Hair cells in the inner ear of the pirouette and shaker 2 mutant mice
32. Neuroanatomy of the cochlea
33. A genetic approach to understanding auditory function
34. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
35. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
36. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
37. Cortical actin organization: Lessons from ERM (ezrin/radixin/moesin) proteins
38. Direct binding of the Na-H exchanger NHE1 to ERM proteins regulates the cortical cytoskeleton and cell shape independently of H(+) translocation
39. Ezrin/radixin/moesin (ERM) proteins bind to a positively charged amino acid cluster in the juxta-membrane cytoplasmic domain of CD44, CD43, and ICAM-2
40. A genetic map of the mouse with 4,006 simple sequence length polymorphisms
41. Endogenous retroviral sequences are required for tissue-specific expression of a human salivary amylase gene
42. A Macintosh program for storage and analysis of experimental genetic mapping data
43. Single-strand conformation polymorphism (SSCP) analysis as a tool for genetic mapping
44. Bacterial artificial chromosome libraries for mouse sequencing and functional analysis
45. Prediction of complete gene structures in human genomic DNA
46. The sequence of the human genome
47. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
48. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'
49. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites
50. Interpreting cDNA sequences: Some insights from studies on translation