@article{b697b5f18dd948b685ea063bc7b747bc,
title = "Disrtruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith- Wiedemann syndrome",
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.",
author = "M. Alders and A. Ryan and M. Hodges and J. Bliek and Feinberg, {A. P.} and O. Privitera and A. Westerveld and Little, {P. F.R.} and Mannens, {M. M.A.M.}",
note = "Funding Information: Work in MMAMM{\textquoteright}s lab was supported by The Netherlands Organization of Scientific Research (NWO grant 504-111) and by the European Community, Biomed2 project BMH4-CT96-1428. Work in PFRL's lab was supported by grants from the United Kingdom Medical Research Council, the European Community (see above), and the Wellcome Trust. Work in APF{\textquoteright}s lab was supported by NIH grant CA54358. Cosmids q25 and q27 were sequenced by Paul Matthews and Amanda McMurray at the Sanger Centre, Hinxton, supported by the Wellcome Trust. We would like to thank P. K. Nieuwenhuisen and G. Salieb-Beugelaar for their contribution and technical assistance. ",
year = "2000",
doi = "10.1086/302892",
language = "English (US)",
volume = "66",
pages = "1473--1484",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",
}