A new spontaneous mutation in the mouse protocadherin 15 gene

Hearing Research

Volumn 219, Issue 1-2, 2006, Pages 110-120

  Zheng, Q Y ^a   Yu, H ^b   Washington III, J L ^a   Kisley, L B ^a   Kikkawa, Y S ^c   Pawlowski, K S ^c   Wright, C G ^c   Alagramam, K N ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b JACKSON LABORATORY   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Cochlear hair cells; Deafness; Mouse; Pcdh15

Indexed keywords

CADHERIN; PROTEIN; PROTOCADHERIN 15; UNCLASSIFIED DRUG;

ALLELE; ANALYTIC METHOD; ANIMAL CELL; ARTICLE; CELL LOSS; CONTROLLED STUDY; DEGENERATION; FEMALE; GENE; GENE DELETION; GENE MUTATION; HAIR CELL; INBRED STRAIN; MALE; MECHANOTRANSDUCTION; MORPHOLOGY; MOUSE; NONHUMAN; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SENSORY NERVE CELL; STEREOCILIUM;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CADHERINS; DEAFNESS; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; EXONS; FEMALE; HAIR CELLS; MALE; MICE; MICE, INBRED C57BL; MICROSCOPY, ELECTRON, SCANNING; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN PRECURSORS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 33746908598     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.heares.2006.06.010     Document Type: Article

References (18)

1. Ahmed Z.M., Riazuddin S., Bernstein S.L., Ahmed Z., Khan S., Griffith A.J., Morell R.J., Friedman T.B., Riazuddin S., and Wilcox E.R. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am. J. Hum. Genet. 69 (2001) 25-34
2. Ahmed Z.M., Riazuddin S., Ahmad J., Bernstein S.L., Guo Y., Sabar M.F., Sieving P., Riazuddin S., Griffith A.J., Friedman T.B., Belyantseva I.A., and Wilcox E.R. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum. Mol. Genet. 12 24 (2003) 3215-3223
3. Alagramam K.N., Stahl J.S., Jones S.M., Pawlowski K.S., and Wright C.G. Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. J. Assoc. Res. Otolaryngol. 6 (2005) 106-118
4. Alagramam K.N., Murcia C.L., Kwon H.Y., Pawlowski K.S., Wright C.G., and Woychik R.P. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat. Genet. 27 (2001) 99-102
5. Alagramam K.N., Kwon H.Y., Cacheiro N.L., Stubbs L., Wright C.G., Erway L.C., and Woychik R.P. A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics 152 (1999) 1691-1699
6. Alagramam K.N., Yuan H., Kuehn M.H., Murcia C.L., Wayne S., Srisailpathy C.R., Lowry R.B., Knaus R., Van Laer L., Bernier F.P., Schwartz S., Lee C., Morton C.C., Mullins R.F., Ramesh A., Van Camp G., Hageman G.S., Woychik R.P., and Smith R.J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum. Mol. Genet. 10 (2001) 1709-1718
7. Ben-Yosef T., Ness S.L., Madeo A.C., Bar-Lev A., Wolfman J.H., Ahmed Z.M., Desnick R.J., Willner J.P., Avraham K.B., Ostrer H., Oddoux C., Griffith A.J., and Friedman T.B. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. New Engl. J. Med. 348 (2003) 1664-1670
8. Erway L.C., Willott J.F., Archer J.R., and Harrison D.E. Genetics of age-related hearing loss in mice: I Inbred and F1 hybrid strains. Hear. Res. 65 (1993) 125-132
9. Gumbiner B.M. Regulation of cadherin-mediated adhesion in morphogenesis. Nat. Rev. Mol. Cell Biol. 6 (2005) 622-634
10. Hampton L.L., Wright C.G., Alagramam K.N., Battey J.F., and Noben-Trauth K. A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. Hear. Res. 180 (2003) 67-75
11. Keithley E.M., Canto C., Zheng Q.Y., Fischel-Ghodsian N., and Johnson K.R. Age-related hearing loss and the ahl locus in mice. Hear. Res. 188 (2004) 21-28
12. Patel S.D., Chen C.P., Bahna F., Honig B., and Shapiro L. Cadherin-mediated cell-cell adhesion: sticking together as a family. Curr. Opin. Struct. Biol. 13 (2003) 690-698
13. Pawlowski K.S., Kikkawa Y.S., Wright C.G., and Alagramam K.N. Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development. J. Assoc. Res. Otolaryngol. (2006) 1-12
14. Raphael Y., Kobayashi K.N., Dootz G.A., Beyer L.A., Dolan D.F., and Burmeister M. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Hear. Res. 151 (2001) 237-249
15. Senften M., Schwander M., Kazmierczak P., Lillo C., Shin J.B., Hasson T., Geleoc G.S., Gillespie P.G., Williams D., Holt J.R., and Muller U. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J. Neurosci. 26 (2006) 2060-2071
16. Taylor B.A., Navin A., and Phillips S.J. PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse. Genomics 21 (1994) 626-632
17. Washington III J.L., Pitts D., Wright C.G., Erway L.C., Davis R.R., and Alagramam K. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. Hear. Res. 202 (2005) 161-169
18. Zheng Q.Y., Johnson K.R., and Erway L.C. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear. Res. 130 (1999) 94-107