title: Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea.
abstract: Hearing impairment is the most frequent sensory deficit in humans. Deafness genes, which harbor pathogenic mutations that have been identified in families with hereditary hearing loss, are commonly expressed in the auditory end organ or the cochlea and may contribute to normal hearing function, yet some of the mouse models carrying these mutations fail to recapitulate the hearing loss phenotype. In this study, we find that distinct expression patterns of those deafness genes in the cochlea of a non-human primate, the common marmoset (Callithrix jacchus). We examined 20 genes whose expression in the cochlea has already been reported. The deafness genes GJB3, CRYM, GRHL2, DFNA5, and ATP6B1 were expressed in marmoset cochleae in patterns different from those in mouse cochleae. Of note, all those genes are causative for progressive hearing loss in humans, but not in mice. The other tested genes, including the deafness gene COCH, in which mutation recapitulates deafness in mice, were expressed in a similar manner in both species. The result suggests that the discrepancy in the expression between rodents and primates may account for the phenotypic difference. This limitation of the rodent models can be bypassed by using non-human primate models such as the marmoset.
authors.affiliation: Keio University School of Medicine, Department of Otorhinolaryngology, Head and Neck Surgery, 35 Shinanomachi Shinjyuku-ku Tokyo, 160-8582, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Hosoya
authors.affiliation: Keio University School of Medicine, Department of Otorhinolaryngology, Head and Neck Surgery, 35 Shinanomachi Shinjyuku-ku Tokyo, 160-8582, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Fujioka
authors.affiliation: Keio University School of Medicine, Department of Otorhinolaryngology, Head and Neck Surgery, 35 Shinanomachi Shinjyuku-ku Tokyo, 160-8582, Japan.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Ogawa
authors.affiliation: Keio University School of Medicine, Department of Physiology, 35 Shinanomachi Shinjyuku-ku Tokyo, 160-8582, Japan.
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Okano
mesh_terms: D000818:Animals; D000595:Amino Acid Sequence; D002144:Callithrix / Q000235:genetics / Q000378:metabolism; D003051:Cochlea / Q000378:metabolism; D017630:Connexins / Q000096:biosynthesis / Q000235:genetics; D020869:Gene Expression Profiling / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics / Q000378:metabolism; D007150:Immunohistochemistry; D008810:Mice, Inbred C57BL; D000090803:mu-Crystallins; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D025262:Vacuolar Proton-Translocating ATPases / Q000096:biosynthesis / Q000235:genetics
chemical_list: C555946:ATP6V1C1 protein, human; D017630:Connexins; C000716469:CRYM protein, human; C000716470:Crym protein, mouse; D000090803:mu-Crystallins; D025262:Vacuolar Proton-Translocating ATPases