Human Gene Set: ABE_INNER_EAR


Standard name ABE_INNER_EAR
Systematic name M260
Brief description Genes prefentially expressed in human inner ear tissue (cochlea and vestibule), at least 10-fold higher from a mixture of 29 other tissues.
Full description or abstract Through cDNA microarray analysis of gene expression in human cochlea and vestibule, we detected strong expression of mu-crystallin (CRYM; also known as NADP-regulated thyroid hormone-binding protein) only in these inner-ear tissues. In a subsequent search for mutations of CRYM, among 192 patients with nonsyndromic deafness, we identified two mutations at the C-terminus; one was a de novo change (X315Y) in a patient with unaffected parents, and the other was a missense mutation (K314T) that segregated dominantly in the proband's family. When the mutated proteins were expressed in COS-7 cells, their subcellular localizations were different from that of the normal protein: the X315Y mutant showed vacuolated distribution in the cytoplasm, and the K314T mutant localized in perinuclear areas, whereas normal protein was distributed homogeneously in the cytoplasm. Aberrant intracellular localization of the mutated proteins might cause dysfunction of the CRYM product and result in hearing impairment. In situ hybridization analysis using mouse tissues indicated its expression in the lateral region of the spiral ligament and the fibrocytes of the spiral limbus, implying its possible involvement in the potassium-ion recycling system. Our results strongly implicate CRYM in normal auditory function and identify it as one of the genes that can be responsible for nonsyndromic deafness.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 12471561   Authors: Abe S,Katagiri T,Saito-Hisaminato A,Usami S,Inoue Y,Tsunoda T,Nakamura Y
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Source species Homo sapiens
Contributed by John Newman (University of Washington)
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identifier namespace		 HUMAN_SEQ_ACCESSION
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Version history 3.0: Renamed from INNEREAR_UP

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