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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Alleles
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Alternative Splicing / genetics
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Amino Acid Sequence
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Amino Acid Substitution / genetics
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Beckwith-Wiedemann Syndrome / genetics*
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Cell Line
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Chromosome Breakage / genetics*
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Chromosomes, Human, Pair 11 / genetics*
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Cloning, Molecular
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Contig Mapping
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DNA Mutational Analysis
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DNA-Binding Proteins / chemistry
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DNA-Binding Proteins / genetics*
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Female
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Fetus / metabolism
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Genomic Imprinting / genetics*
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Humans
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Male
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Molecular Sequence Data
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Organ Specificity
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Polymorphism, Single-Stranded Conformational
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RNA, Antisense / genetics
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RNA, Messenger / analysis
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RNA, Messenger / genetics
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Zinc Fingers*
Substances
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DNA-Binding Proteins
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RNA, Antisense
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RNA, Messenger
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ZNF214 protein, human
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ZNF215 protein, human
Associated data
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GENBANK/AF056617
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GENBANK/AF056618
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GENBANK/Z68344
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GENBANK/Z68746