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

Détails

ID Serval
serval:BIB_FF2D08620BDB
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Identification of additional transcripts in the Williams-Beuren syndrome critical region.
Périodique
Human Genetics
Auteur⸱e⸱s
Merla G., Ucla C., Guipponi M., Reymond A.
ISSN
0340-6717 (Print)
ISSN-L
0340-6717
Statut éditorial
Publié
Date de publication
2002
Volume
110
Numéro
5
Pages
429-438
Langue
anglais
Résumé
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.
Mots-clé
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
Création de la notice
24/01/2008 15:51
Dernière modification de la notice
20/08/2019 16:29
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