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
Auteur⸱e⸱s
Merla G., Howald C., Henrichsen C.N., Lyle R., Wyss C., Zabot M.T., Antonarakis S.E., Reymond A.
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
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