Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans
1998
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- Autor(en) / Beteiligte
- Titel
- Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans
- Ist Teil von
- Science (American Association for the Advancement of Science), 1998-03, Vol.279 (5358), p.1950-1954
- Ort / Verlag
- Washington, DC: American Society for the Advancement of Science
- Erscheinungsjahr
- 1998
- Quelle
- American Association for the Advancement of Science
- Beschreibungen/Notizen
- The molecular basis for autosomal dominant progressive nonsyndromic hearing loss in an Israeli Jewish family, Family H, has been determined. Linkage analysis placed this deafness locus, DFNA15, on chromosome 5q31. The human homolog of mouse Pou4f3, a member of the POU-domain family of transcription factors whose targeted inactivation causes profound deafness in mice, was physically mapped to the 25-centimorgan DFNA15-linked region. An 8-base pair deletion in the POU homeodomain of human POU4F3 was identified in Family H. A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0036-8075eISSN: 1095-9203DOI: 10.1126/science.279.5358.1950Titel-ID: cdi_proquest_miscellaneous_79738497
- Format
- –
- Schlagworte
- Adult, Animals, Biological and medical sciences, Brain, Cell Differentiation, Chromosome Mapping, Chromosomes, Human, Pair 5 - genetics, Coding, Deafness, Deafness - genetics, DNA, Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology, Families & family life, Family (Sociological Unit), Female, Fractions, Gene Expression, Genes, Genetic aspects, Genetic Linkage, Genetic mutation, Genetics, Genomics, Hair cells, Hair Cells, Auditory - cytology, Hair Cells, Auditory - physiology, Hearing Impairments, Hearing loss, Hearing Loss, Sensorineural - genetics, Homeodomain Proteins - genetics, Homeodomain Proteins - metabolism, Human genetics, Humans, Israel, Jews, Jews - genetics, Male, Medical sciences, Mice, Middle Aged, Molecular Sequence Data, Mutation, Non tumoral diseases, Otorhinolaryngology. Stomatology, Pedigree, Polymerase Chain Reaction, Protein Structure, Secondary, Sequence Deletion, Transcription Factor Brn-3C, Transcription factors, Transcription Factors - genetics, Transcription Factors - metabolism, Transcription Factors - physiology