Otospiralin is a novel protein of unknown function that is produced by non-sensory cells (fibrocytes) of the inner ear (cochlea and vestibule). We showed that downregulation of otospiralin in guinea pigs leads to deafness and we therefore hypothesized that genetic defects in the otospiralin gene could also cause deafness in humans. In this study, we cloned and localized OTOSP, the human gene for otospiralin. OTOSP spans 1,630 nucleotides, contains four exons and codes for a 567-nucleotide cDNA. By fluorescence in situ hybridization and hybrid panel mapping we localized OTOSP on chromosome 2 at position q37.3. There is currently no deafness family linked to this region. We screened OTOSP for mutations in 410 unrelated patients exhibiting various levels of hearing loss. Beside intronic polymorphisms, a rare variant (Pro7Leu) was found in 4 deafness patients and 3 control individuals, indicating that this change is not involved in this condition and excluding OTOSP as a major gene for genetic deafness.
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NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263
WOLF, FW
EDDY, RL
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NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263
EDDY, RL
SHOWS, TB
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NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263
SHOWS, TB
DIXIT, VM
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NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263NEW YORK STATE DEPT HLTH,ROSWELL PK MEM INST,DEPT HUMAN GENET,BUFFALO,NY 14263
机构:Korea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South Korea
Kim, SJ
Yu, DY
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机构:Korea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South Korea
Yu, DY
Pak, KW
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机构:Korea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South Korea
Pak, KW
Jeong, S
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机构:Korea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South Korea
Jeong, S
Kim, SW
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机构:Korea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South Korea
Kim, SW
Lee, KK
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Korea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South KoreaKorea Res Inst Biosci & Biotechnol, Plant & Anim Cell Technol Res Div, Taejon 305333, South Korea