RECOVERY FROM HEMOPHILIA-B LEYDEN - AN ANDROGEN-RESPONSIVE ELEMENT IN THE FACTOR-IX PROMOTER

被引：126

作者：

CROSSLEY, M

LUDWIG, M

STOWELL, KM

DEVOS, P

OLEK, K

BROWNLEE, GG

机构：

[1] UNIV OXFORD,SIR WILLIAM DUNN SCH PATHOL,CHEM PATHOL UNIT,S PARKS RD,OXFORD OX1 3RE,ENGLAND

[2] UNIV BONN,INST EXPTL HEMATOL & BLOOD TRANSFUS,W-5300 BONN 1,GERMANY

[3] CATHOLIC UNIV LEUVEN,EXPTL MED & ENDOCRINOL LAB,B-3000 LOUVAIN,BELGIUM

[4] UNIV BONN,INST CLIN BIOCHEM,W-5300 BONN 1,GERMANY

来源：

SCIENCE | 1992年 / 257卷 / 5068期

基金：

英国惠康基金;

关键词：

D O I：

10.1126/science.1631558

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 [理学]; 0710 [生物学]; 09 [农学];

摘要：

One form of the inherited, X-linked, bleeding disorder, hemophilia B, resolves after puberty. Mutations at -20 and -26 in the clotting factor IX promoter impair transcription by disrupting the binding site for the liver-enriched transcription factor LF-A1/HNF4. The -26 but not the -20 mutation also disrupts an androgen-responsive element, which overlaps the LF-A1/HNF4 site. This explains the improvement seen in patients with the -20 mutation and the failure of the -26 patient to recover.

引用

页码：377 / 379

页数：3

共 22 条

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