Identification of additional transcripts in the Williams-Beuren syndrome critical region.

Details

Serval ID
serval:BIB_FF2D08620BDB
Type
Article: article from journal or magazin.
Collection
Publications
Title
Identification of additional transcripts in the Williams-Beuren syndrome critical region.
Journal
Human Genetics
Author(s)
Merla G., Ucla C., Guipponi M., Reymond A.
ISSN
0340-6717 (Print)
ISSN-L
0340-6717
Publication state
Published
Issued date
2002
Volume
110
Number
5
Pages
429-438
Language
english
Abstract
Williams-Beuren syndrome (WBS) is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. Here, we report the characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies. Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features.
Keywords
Alternative Splicing/genetics, Base Sequence, Chromosome Deletion, Chromosomes, Human, Pair 7/genetics, Gene Expression Profiling, Gene Order, Genes, Humans, Molecular Sequence Data, Organ Specificity, Physical Chromosome Mapping, RNA, Messenger/genetics, RNA, Messenger/metabolism, Reverse Transcriptase Polymerase Chain Reaction, Transcription, Genetic/genetics, Williams Syndrome/genetics
Pubmed
Web of science
Create date
24/01/2008 16:51
Last modification date
20/08/2019 17:29
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