Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

被引：256

作者：

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 ^{[1
]}

机构：

[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

来源：

SCIENCE | 1998年 / 279卷 / 5358期

关键词：

D O I：

10.1126/science.279.5358.1950

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1950 / 1954

页数：5

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