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| Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans |
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| Author(s): Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB |
| Source: SCIENCE Volume: 279 Issue: 5358 Pages: 1950-1954 Published: MAR 20 1998 |
| Times Cited: 159 References: 36 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Avraham, KB (reprint author), Tel Aviv Univ, Sackler Sch Med, Dept Human Genet, IL-69978 Tel Aviv, Israel |
Addresses:
1. Tel Aviv Univ, Sackler Sch Med, Dept Human Genet, IL-69978 Tel Aviv, Israel
2. NIDCD, NIH, Bethesda, MD 20850 USA
3. Univ Washington, Dept Med, Seattle, WA 98195 USA
4. Univ Washington, Dept Genet, Seattle, WA 98195 USA
5. Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
6. Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA
7. Hadassah Univ Hosp, Unit Dev Mol Biol & Genet Engn, IL-91240 Jerusalem, Israel
8. Chaim Sheba Med Ctr, Genet Inst, IL-52621 Tel Hashomer, Israel
9. Harvard Univ, Sch Med, Boston, MA 02115 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: ZC748 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |