ISOLATION OF A PUTATIVE TRANSCRIPTIONAL REGULATOR FROM THE REGION OF 22Q11 DELETED IN DIGEORGE-SYNDROME, SHPRINTZEN SYNDROME AND FAMILIAL CONGENITAL HEART-DISEASE

被引：142

作者：

HALFORD, S

WADEY, R

ROBERTS, C

DAW, SCM

WHITING, JA

ODONNELL, H

DUNHAM, I

BENTLEY, D

LINDSAY, E

BALDINI, A

FRANCIS, F

LEHRACH, H

WILLIAMSON, R

WILSON, DI

GOODSHIP, J

CROSS, I

BURNS, J

SCAMBLER, PJ

机构：

[1] INST CHILD HLTH,MOLEC MED UNIT,LONDON WC1N 1EH,ENGLAND

[2] UMDS,DIV MED & MOLEC GENET,LONDON SE1 9RT,ENGLAND

[3] BAYLOR COLL MED,INST MOLEC GENET T936,HOUSTON,TX 77030

[4] ICRF,GENOME ANAL LAB,LONDON WC2A 3PX,ENGLAND

[5] IMPERIAL COLL SCI TECHNOL & MED,ST MARYS HOSP,SCH MED,DEPT BIOCHEM & MOLEC GENET,LONDON W2 1PG,ENGLAND

[6] UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE2 4AA,TYNE & WEAR,ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 12期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/2.12.2099

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine embryogenesis. The gene, named TUPLE1, and its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found in the beta-transducin/enhancer of split (TLE) family. The TUPLE1 product has several features typical of transcriptional control proteins and in particular has homology with the yeast Tup1 transcriptional regulator. We propose that haploinsufficiency for TUPLE1 is at least partly responsible for DiGeorge syndrome and related abnormalities.

引用

页码：2099 / 2107

页数：9

共 69 条

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