Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Details

Serval ID
serval:BIB_A78B3DE949B3
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
Journal
American Journal of Human Genetics
Author(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]
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
79
Number
2
Pages
332-341
Language
english
Abstract
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.
Keywords
Cell Line, Transformed, Cells, Cultured, Chromosomes, Human, Pair 7/genetics, Gene Deletion, Gene Expression, Humans, Williams Syndrome/genetics
Pubmed
Web of science
Open Access
Yes
Create date
24/01/2008 15:52
Last modification date
20/08/2019 15:12
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