| Autor: |
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 AP, Privitera O, Westerveld A, Little PF, Mannens M |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of human genetics [Am J Hum Genet] 2000 May; Vol. 66 (5), pp. 1473-84. Date of Electronic Publication: 2000 Apr 10. |
| DOI: |
10.1086/302892 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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