The long-term objective of this proposal is to identify human auditory genes and determine their role in the auditory process. The human auditory genes will be identified by characterizing those cDNA clones identified from a fetal cochlear cDNA library that had preferential cochlear mRNA expression patterns or significant sequence homology to non-human genes thought to be important for the hearing process. Full-length cDNA sequences will be obtained by screening a cochlear CAPfinder library and scrutinized by BLAST analysis. RNA expression patterns will be assessed for those cDNA clones whose expression patterns are not known. The chromosomal map position will be assessed by cytogenetic analysis and radiation hybrid mapping. Any cDNA found to map to a deafness loci may be screened for mutations in relevant patients. Those cDNAs found to be interesting (i.e., maps to deafness, loci, cochlea expression) will be characterized further by in situ hybridization for determining the cell type expression patterns and by immunohistochemistry to determine protein localization.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
5F32DC000405-03
Application #
6476047
Study Section
Special Emphasis Panel (ZRG1-IFCN-6 (01))
Program Officer
Sklare, Dan
Project Start
2001-12-01
Project End
Budget Start
2001-12-01
Budget End
2001-12-31
Support Year
3
Fiscal Year
2002
Total Cost
$3,100
Indirect Cost
Name
Brigham and Women's Hospital
Department
Type
DUNS #
071723621
City
Boston
State
MA
Country
United States
Zip Code
02115
Williamson, Robin E; Darrow, Keith N; Giersch, Anne B S et al. (2008) Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient mice. Hear Res 237:57-65
Sivakumaran, Theru A; Resendes, Barbara L; Robertson, Nahid G et al. (2006) Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence. J Assoc Res Otolaryngol 7:160-72
Resendes, Barbara L; Kuo, Sharon F; Robertson, Nahid G et al. (2004) Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J Assoc Res Otolaryngol 5:185-202
Resendes, Barbara L; Robertson, Nahid G; Szustakowski, Joseph D et al. (2002) Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences. J Assoc Res Otolaryngol 3:45-53
Robertson, N G; Resendes, B L; Lin, J S et al. (2001) Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum Mol Genet 10:2493-500