Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin

被引:0
|
作者
Mireille Lavigne-Rebillard
Benjamin Delprat
Marie-Odile Surget
Jean-Michel Griffoin
Dominique Weil
Mariona Arbones
Robert Vincent
Christian P. Hamel
机构
[1] INSERM U. 583,Physiopathologie et Thérapie des Déficits Sensoriels et Moteurs
[2] Institut Pasteur,Génétique des Déficits Sensoriels, INSERM U. 587
[3] Hospital Duran i Reynals,Centre de Genètica Mèdica i Molecular
[4] Clinique Causse,IRO
来源
Neurogenetics | 2003年 / 4卷
关键词
Deafness; Cochlea; Vestibule; Gene polymorphism;
D O I
暂无
中图分类号
学科分类号
摘要
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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页码:137 / 140
页数:3
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