Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome

被引：37

作者：

Alders, M

Ryan, A

Hodges, M

Bliek, J

Feinberg, AP

Privitera, O

Westerveld, A

Little, PFR

Mannens, M

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Human Genet, NL-1105 AZ Amsterdam, Netherlands

[3] Univ London Imperial Coll Sci Technol & Med, Dept Biochem, London, England

[4] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

[5] Azienda Osped Legnano, Lab Citogenet, Legnano, Italy

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 66卷 / 05期

关键词：

D O I：

10.1086/302892

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11p15 (BWSCR1, BWSCR2, and BWSCR3) may play a role in the development of BWS. BWSCR2 is defined by two BWS breakpoints. Here we describe the cloning and sequence analysis of 73 kb containing BWSCR2. Within this region, we detected a novel zinc-finger gene, ZNF215. We show that two of its five alternatively spliced transcripts are disrupted by both BWSCR2 breakpoints. Parts of the 3' end of these splice forms are transcribed from the antisense strand of a second zinc-finger gene, ZNF214. We show that ZNF215 is imprinted in a tissue-specific manner.

引用

页码：1473 / 1484

页数：12

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