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PMID: 10762538 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 66 ·No. 5 ·2000-05-00 ·Pages 1473-84

Alders M, Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PF, Mannens M

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.

MeSH Terms
Alleles Alternative Splicing/genetics Amino Acid Sequence Amino Acid Substitution/genetics Beckwith-Wiedemann Syndrome/genetics Cell Line Chromosome Breakage/genetics Chromosomes, Human, Pair 11/genetics Cloning, Molecular Contig Mapping DNA Mutational Analysis DNA-Binding Proteins/chemistry,genetics Female Fetus/metabolism Genomic Imprinting/genetics Humans Male Molecular Sequence Data Organ Specificity Polymorphism, Single-Stranded Conformational RNA, Antisense/genetics RNA, Messenger/analysis,genetics Zinc Fingers
Chemicals
DNA-Binding Proteins RNA, Antisense RNA, Messenger ZNF214 protein, human ZNF215 protein, human
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Alders M
Department of Human Genetics and Department of Clinical Genetics, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands.
Ryan A
Hodges M
Bliek J
Feinberg A P
Privitera O
Westerveld A
Little P F
Mannens M
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302892
Published
2000-05-00
Epub
2000-00-10
Pages
1473-84
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1378011
Subset
IM
Grants
NCI NIH HHS · R01 CA054358 · United States
NCI NIH HHS · CA54358 · United States
Databases
GENBANK
AF056617, AF056618, Z68344, Z68746
External Links
PubMed source DOI: 10.1086/302892 PMC Full Text View journal details
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