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

M. Alders, A. Ryan, M. Hodges, J. Bliek, A. P. Feinberg, O. Privitera, A. Westerveld, P. F.R. Little, M. M.A.M. Mannens

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1473-1484
Number of pages12
JournalAmerican journal of human genetics
Volume66
Issue number5
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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