Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1063509 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR27485610_1.fastq.gz | Fastqsanger.gz | |||
| SRR27485610_2.fastq.gz | Fastqsanger.gz |
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Project description:Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss
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Project description:RNA splicing is essential for gene regulation, but its role in maintaining cochlear hair cell function remains incompletely understood. Here, we identified a heterozygous missense variant in DNAJC17 (c.401A>C, p.E134A), which encodes a spliceosome-associated protein, that segregates with adult-onset progressive hearing loss in a multigenerational family. Hair cell-specific deletion of Dnajc17 in mice resulted in profound deafness with progressive hair cell degeneration, establishing its essential role in cochlear maintenance. Hair cells lacking DNAJC17 exhibited marked stereocilia disorganization accompanied by widespread alternative splicing defects in the cochlea. Notably, the dual-specificity protein kinase Clk1 that regulates pre-mRNA splicing showed altered exon inclusion, consistent with disruption of splicing control networks. In addition, Dnajc17 p.E134A knock in mice developed adult-onset progressive hearing loss with stereocilia and mitochondria abnormalities but preserved hair cell survival, recapitulating the human phenotype. Together, these findings identify DNAJC17 as a gene for autosomal dominant hearing loss and identify RNA splicing regulation as a key mechanism required for long-term maintenance of cochlear hair cell integrity.
2026-03-02 | GSE320419 | GEO
Project description:This study demonstrates the baseline data of gradient gene expression in the cochlea. Especially for genes whose mutations cause autosomal dominant non syndromic hearing loss (Pou4f3, Slc17a8, Tmc1, and Crym) as well as genes important for cochlear function (Emilin-2 and Tectb), gradual expression changes help to explain the various pathological conditions.
2014-01-08 | GSE53863 | GEO
Project description:Whole genome genotyping (WGG) arrays are the powerful tools for GWAS in farm animal. Here we take advantage of the commercial Illumina PorcineSNP60 BeadChips, a mapping population including 101 individuals were genotyped. Association analysis and linkage analysis were followed to map the causative gene of hearing loss in Chinese Rongchang pigs. To Mapping the causative gene of hearing loss in Chinese Rongchang pigs, we genotyped 60000 markers in the genome of a mapping population including 101 individuals. Illumina 60K BeadChips were used. Sample types were normal blood samples.
2015-05-01 | E-GEOD-67618 | biostudies-arrayexpress
Project description:Background The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as copy number variation (CNV) mapping in a case-control cohort. Results Analysis of three distinct families revealed several candidate loci in two families and a single strong candidate gene, MYH7B, for hearing loss in one family. MYH7B encodes a Type II myosin, consistent with a role for cytoskeletal proteins in hearing. High-resolution genome-wide CNV analysis of 150 cases and 157 controls revealed deletions in genes known to be involved in hearing (e.g. GJB6, OTOA, and STRC, encoding connexin 30, otoancorin, and stereocilin, respectively), supporting CNV contributions to hearing loss phenotypes. Additionally, a novel region on chromosome 16 containing part of the PDXDC1 gene was found to be frequently deleted in hearing loss patients (OR = 3.91, 95% CI: 1.62-9.40, p = 1.45 x 10-7). Conclusions We conclude that many known as well as novel loci and distinct types of mutations not typically tested in clinical settings can contribute to the etiology of hearing loss. Our study also demonstrates the challenges of exome sequencing and genome-wide CNV mapping for direct clinical application, and illustrates the need for functional and clinical follow-up as well as curated open-access databases. Single replicates of 151 non-syndromic hereditary hearing loss cases and 157 controls with normal hearing were analyzed.
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Project description:This study demonstrates the baseline data of gradient gene expression in the cochlea. Especially for genes whose mutations cause autosomal dominant non syndromic hearing loss (Pou4f3, Slc17a8, Tmc1, and Crym) as well as genes important for cochlear function (Emilin-2 and Tectb), gradual expression changes help to explain the various pathological conditions. Four C57BL/6 mice aged 6 weeks cochlea samples including the lateral wall, stria vascularis, spiral ligament, spiral prominence, and the organ of corti were dissected and separated into the apical, middle and basal turns to compare gene expression profiles of each cochlea turn.
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