Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans-Reference-Cited by-同舟云学术

Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans

Published:1998-03-20 Issue:5358 Volume:279 Page:1950-1954
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Vahava Oz¹²³⁴⁵,Morell Robert¹²³⁴⁵,Lynch Eric D.¹²³⁴⁵,Weiss Sigal¹²³⁴⁵,Kagan Marjory E.¹²³⁴⁵,Ahituv Nadav¹²³⁴⁵,Morrow Jan E.¹²³⁴⁵,Lee Ming K.¹²³⁴⁵,Skvorak Anne B.¹²³⁴⁵,Morton Cynthia C.¹²³⁴⁵,Blumenfeld Anat¹²³⁴⁵,Frydman Moshe¹²³⁴⁵,Friedman Thomas B.¹²³⁴⁵,King Mary-Claire¹²³⁴⁵,Avraham Karen B.¹²³⁴⁵

Affiliation:

1. O. Vahava, S. Weiss, M. E. Kagan, N. Ahituv, K. B. Avraham, Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

2. R. Morell and T. B. Friedman, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health, Bethesda, MD 20850, USA.

3. E. D. Lynch, J. E. Morrow, M. K. Lee, M.-C. King, Departments of Medicine and Genetics, University of Washington, Seattle, WA 98195, USA.

4. A. B. Skvorak and C. C. Morton, Department of Pathology and Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

5. A. Blumenfeld, Unit for Development of Molecular Biology and Genetic Engineering, Hadassah University Hospital, Mt. Scopus, Jerusalem 91240, Israel.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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