Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

Gene

Volumn 246, Issue 1-2, 2000, Pages 265-274

  Scott, D A ^a,b   Drury, S ^c   Sundstrom, R A ^d   Bishop, J ^b   Swiderski, R E ^b   Carmi, R ^e   Ramesh, A ^f   Elbedour, K ^e   Srikumari Srisailapathy, C R ^f   Keats, B J ^c   Sheffield, V C ^a,b   Smith, R J H ^d  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^c LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

^d UNIVERSITY OF IOWA HEALTH CARE   (United States)

^e BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^f UNIVERSITY OF MADRAS   (India)

Author keywords

ARNSHL; Autosomal recessive non syndromic hearing loss; dn dn mouse mutant; Transmembrane protein

Indexed keywords

COMPLEMENTARY DNA; MEMBRANE PROTEIN;

ALLELE; AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 19; CHROMOSOME 9Q; COCHLEA; COMPUTER ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; GENE AMPLIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MARKER GENE; MOUSE; NONHUMAN; NORTHERN BLOTTING; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BLOTTING, NORTHERN; CHROMOSOME MAPPING; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 9; COCHLEA; CONTIG MAPPING; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FAMILY HEALTH; FEMALE; GENE EXPRESSION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TISSUE DISTRIBUTION;

ANIMALIA; MURINAE;

EID: 0034603782     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(00)00090-1     Document Type: Article

References (25)

1. Bock G.R., Steel K.P. Inner ear pathology in the deafness mutant mouse. Acta Otolaryngol. 96:1983;39-47.
2. Dole M.S., Kocher W. A new gene for deafness in the mouse. Heredity. 12:1958;463-466.
3. Ferrie R.M., Schwarz M.J., Robertson N.H., Vaudin S., Super M., Malone G., Little S. Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene. Am. J. Hum. Genet. 51:1992;251-262.
4. Greinwald J.H. Jr., et al. Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Genome Res. 7:1997;879-886.
5. Jain P.K., et al. A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. Hum. Mol. Genet. 4:1995;2391-2394.
6. Keats B.J.B., Nouri N., Huang J.M., Webster D.B., Berlin C.I. The deafness locus (dn) maps to mouse Chromosome 19. Mamm. Genome. 6:1995;8-10.
7. Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., Leigh I.M. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 387:1997;80-83.
8. Kozak M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome. 7:1996;563-574.
9. Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D., Wilcox E.R. A mutation in PDS causes non-syndromic recessive deafness. Nat. Genet. 18:1998;215-217.
10. Liu X.-Z., Walsh J., Mburu P., Kendrick-Jones J., Cope M.J.T.V., Steel K.P., Brown S.D.M. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat. Genet. 16:1997;188-190.
11. Marazita M.L., Ploughman L.M., Rawlings B., Remington E., Arnos K.S., Nance W.E. Genetic epidemiological studies of early-onset deafness in the U.S. School-age population. Am. J. Hum. Genet. 46:1993;486-491.
12. Morton N.E. Genetic epidemiology of hearing impairment. Ann. NY Acad. Sci. 630:1991;16-31.
13. Oudesluys-Murphy A.M., van Straaten H.L., Bholasingh R., van Zaten G.A. Neonatal hearing screening. Eur. J. Pediatr. 155:1996;429-435.
14. Pujol R., Shnerson A., Lenooir M., Deol M.S. Early degeneration of sensory and ganglion cells in the inner ear of mice with uncomplicated genetic deafness (dn), Preliminary observations. Hear. Res. 12:1983;57-63.
15. Reardon W. Genetic deafness. J. Med. Genet. 29:1992;521-526.
16. Robertson N.G., Khetarpal U., Gutierrez-Espeleta G.A., Bieber F.R., Morton C.C. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics. 23:1994;42-50.
17. Rose S.P., Conneally P.M., Nance W.E. Genetic analysis of childhood deafness. Bess H. Childhood deafness. 1977;19-36 Grune and Stratton, New York.
18. Schein J.D. Childhood hearing loss: epidemiology and implications. Levin L.S., Knight C.H. Genetic and environmental hearing loss: syndromic and nonsyndromic. 1980;Alan R. Liss, New York.
19. Scott D.A., et al. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59:1996;385-391.
20. Scott D.A., et al. Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss-loci on human chromosome 9q and mouse chromosome 19. Gene. 215:1998;461-469.
21. Van Camp G., Willems P.J., Smith R.J.H. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60:1997;758-764.
22. Van Camp G., Smith R.J.H. http://dnalab-www.uia.ac.be/dnalab/hhh/ Hereditary Hearing Loss Homepage. 1999.
23. Viñas A.M., Drury S.S., De Angelis M.M., Den Z., Huang J.M., Berlin C.I., Hunt J.D., Batzer M.A., Deininger P.L., Keats B.J.B. The mouse deafness locus (dn) is associated with an inversion on chromosome 19. Biochim. Biophys. Acta. 1407:1998;257-262.
24. Wang A., Liang Y., Fridell R.A., Probst F.J., Wilcox E.R., Touchman J.W., Morton C.C., et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 280:1998;1447-1451.
25. Weil D., Kussel P., Blanchard S., Levy G., Levi-Acobas F., Drira M., Ayadi H., Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat. Genet. 16:1997;191-193.