POSITIONAL CLONING AND CHARACTERIZATION OF A PAIRED BOX-CONTAINING AND HOMEOBOX-CONTAINING GENE FROM THE ANIRIDIA REGION

被引：728

作者：

TON, CCT

HIRVONEN, H

MIWA, H

WEIL, MM

MONAGHAN, P

JORDAN, T

VANHEYNINGEN, V

HASTIE, ND

MEIJERSHEIJBOER, H

DRECHSLER, M

ROYERPOKORA, B

COLLINS, F

SWAROOP, A

STRONG, LC

SAUNDERS, GF

机构：

[1] UNIV TEXAS,MD ANDERSON CANC CTR,DEPT EXPTL PEDIAT,HOUSTON,TX 77030

[2] UNIV TURKU,DEPT MED BIOCHEM,SF-20520 TURKU 52,FINLAND

[3] WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND

[4] UNIV HEIDELBERG,INST HUMANGENET & ANTHROPOL,W-6900 HEIDELBERG 1,GERMANY

[5] HOWARD HUGHES MED INST,DEPT INTERNAL MED,ANN ARBOR,MI

[6] HOWARD HUGHES MED INST,DEPT HUMAN GENET,ANN ARBOR,MI

[7] UNIV MICHIGAN,DEPT OPHTHALMOL,ANN ARBOR,MI 48109

[8] UNIV MICHIGAN,DEPT HUMAN GENET,ANN ARBOR,MI 48109

来源：

CELL | 1991年 / 67卷 / 06期

关键词：

D O I：

10.1016/0092-8674(91)90284-6

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：

Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN. The < 70 kb smallest region of overlap between the two deletions encompasses the 3' coding region of the cDNA. This cDNA, which spans over 50 kb of genomic DNA, detects a 2.7 kb message specifically within all tissues affected in AN. The predicted polypeptide product possesses a paired domain, a homeodomain, and a serine/threonine-rich carboxy-terminal domain, structural motifs characteristic of certain transcription factors. The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene.

引用

页码：1059 / 1074

页数：16

共 77 条

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