Journal article
Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
Gene, Vol.246(1), pp.265-274
2000
DOI: 10.1016/S0378-1119(00)00090-1
PMID: 10767548
Abstract
The combined DFNB7–DFNB11 deafness locus maps to chromosome 9q13–q21 between markers D9S1806 and D9S769. We have determined the cDNA sequence and genomic structure of a novel gene,
TMEM2, that maps to this interval and is expressed in the cochlea. The mouse orthologue of this gene (
Tmem2) maps to the murine
dn (deafness) locus on mouse chromosome 19. Screens for transmembrane helices reveal the presence of at least one putative transmembrane domain in the TMEM2 protein.
To determine whether mutations in
TMEM2 cause hearing loss at the DFNB7–DFNB11 locus, we screened the coding region of this gene in DFNB7–DFNB11 affected families by direct sequencing. All DNA variants that segregated with the deafness and changed the predicted amino acid sequence of
TMEM2 were common polymorphisms, as demonstrated by allele-specific amplification of pooled control DNA. Northern blot analysis showed no difference in transcript size or expression level of
Tmem2 in
dn/dn and control mice. The intragenic polymorphisms in
TMEM2 represent a novel centromeric boundary for the DFNB7–DFNB11 interval.
Details
- Title: Subtitle
- Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
- Creators
- D.A Scott - Howard Hughes Medical Institute, Iowa City, IA 52242-1078, USAS Drury - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, LA 70112, USAR.A Sundstrom - Department of Molecular Otolaryngology Research Laboratories, Department of Otolaryngology — Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA 52242-1078, USAJ Bishop - University of IowaR.E Swiderski - Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242-1078, USAR Carmi - Genetics Institute, Soroka Medical Center, Ben Gurion University of Negev, Beer-Sheva, IsraelA Ramesh - Department of Genetics, University of Madras, Madras, IndiaK Elbedour - Genetics Institute, Soroka Medical Center, Ben Gurion University of Negev, Beer-Sheva, IsraelC.R Srikumari Srisailapathy - Department of Genetics, University of Madras, Madras, IndiaB.J Keats - Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans, LA 70112, USAV.C Sheffield - Howard Hughes Medical Institute, Iowa City, IA 52242-1078, USAR.J.H Smith - Department of Molecular Otolaryngology Research Laboratories, Department of Otolaryngology — Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA 52242-1078, USA
- Resource Type
- Journal article
- Publication Details
- Gene, Vol.246(1), pp.265-274
- Publisher
- Elsevier B.V
- DOI
- 10.1016/S0378-1119(00)00090-1
- PMID
- 10767548
- ISSN
- 0378-1119
- eISSN
- 1879-0038
- Language
- English
- Date published
- 2000
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9984006414102771
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