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Title

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

Authors
Howald, Cedric
Henrichsen, C. N.
Wyss, Carine
Zabot, M. T.
Published in American Journal of Human Genetics. 2006, vol. 79, no. 2, p. 332-341
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, TransformedCells, CulturedChromosomes, Human, Pair 7/ geneticsGene DeletionGene ExpressionHumansWilliams Syndrome/ genetics
Identifiers
PMID: 16826523
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MERLA, Giuseppe et al. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. In: American Journal of Human Genetics, 2006, vol. 79, n° 2, p. 332-341. https://archive-ouverte.unige.ch/unige:8897

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Deposited on : 2010-07-12

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