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

Alders, M. and Ryan, A. and Hodges, Matt and Bliek, J. and Feinberg, A. P. and Privitera, O. and Westerveld, A. and Little, P. F. R. and Mannens, M. (2000) Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. American Journal of Human Genetics, 66 (5). pp. 1473-1484. ISSN 0002-9297

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Abstract

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.

Item Type: Article
Journal or Publication Title: American Journal of Human Genetics
Uncontrolled Keywords: BWS ; ZNF215
Subjects:
Departments: Faculty of Health and Medicine > Biomedical & Life Sciences
ID Code: 65578
Deposited By: ep_importer_pure
Deposited On: 08 Jul 2013 11:39
Refereed?: Yes
Published?: Published
Last Modified: 21 Sep 2017 05:43
Identification Number:
URI: http://eprints.lancs.ac.uk/id/eprint/65578

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