Genetic basis of Y-linked hearing impairment.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 23352258.
- Also identified by DOI 10.1016/j.ajhg.2012.12.015 and PMC identifier 3567277.
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Abstract
A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype.
Medical subject headings
- Chromosomes, Human, Y
- Genes, Y-Linked
- Hearing Loss