威廉斯-贝伦综合征关键区域中其他转录本的鉴定。

Identification of additional transcripts in the Williams-Beuren syndrome critical region.

作者信息

Merla Giuseppe, Ucla Catherine, Guipponi Michel, Reymond Alexandre

机构信息

Division of Medical Genetics, University of Geneva Medical School, CMU, 1 Rue Michel Servet, 1211 Geneva 4, Switzerland.

出版信息

Hum Genet. 2002 May;110(5):429-38. doi: 10.1007/s00439-002-0710-x. Epub 2002 Mar 28.

DOI:10.1007/s00439-002-0710-x

PMID:12073013

Abstract

Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.

摘要

威廉姆斯-博伦综合征（WBS）是一种与7q11.23处多个基因单倍剂量不足相关的发育障碍。在此，我们报告了WBSCR16、WBSCR17、WBSCR18、WBSCR20A、WBSCR20B、WBSCR20C、WBSCR21、WBSCR22和WBSCR23这九个新基因的特征，它们包含在WBS常见缺失区域或其侧翼序列中。它们编码一种类RCC1鸟嘌呤交换因子、一种N-乙酰半乳糖胺基转移酶、一种类DNAJ伴侣蛋白、含NOL1/NOP2/太阳结构域的蛋白、一种甲基转移酶或无已知同源性的蛋白。这些新鉴定的WBSCR基因的单倍剂量不足可能导致WBS的某些表型特征。