Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
- Merla G Center for Integrative Genomics, Genopode Building, University of Lausanne, Lausanne, Switzerland.
- Howald C
- Henrichsen CN
- Lyle R
- Wyss C
- Zabot MT
- Antonarakis SE
- Reymond A
- 2006-07-11
Published in:
- American journal of human genetics. - 2006
Cell Line, Transformed
Cells, Cultured
Chromosomes, Human, Pair 7
Gene Deletion
Gene Expression
Humans
Williams Syndrome
English
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.
- Language
-
- English
- Open access status
- green
- Identifiers
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- DOI 10.1086/506371
- PMID 16826523
- Persistent URL
- https://sonar.ch/global/documents/897
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