Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
Détails
ID Serval
serval:BIB_A78B3DE949B3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
Périodique
American Journal of Human Genetics
ISSN
0002-9297[print], 0002-9297[linking]
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
79
Numéro
2
Pages
332-341
Langue
anglais
Résumé
Genomic imbalance is a common cause of phenotypic abnormalities. We measured the relative expression level of genes that map within the microdeletion that causes Williams-Beuren syndrome and within its flanking regions. We found, unexpectedly, that not only hemizygous genes but also normal-copy neighboring genes show decreased relative levels of expression. Our results suggest that not only the aneuploid genes but also the flanking genes that map several megabases away from a genomic rearrangement should be considered possible contributors to the phenotypic variation in genomic disorders.
Mots-clé
Cell Line, Transformed, Cells, Cultured, Chromosomes, Human, Pair 7/genetics, Gene Deletion, Gene Expression, Humans, Williams Syndrome/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2008 16:52
Dernière modification de la notice
20/08/2019 16:12