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Scientific article
English

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

Published inAmerican journal of human genetics, vol. 79, no. 2, p. 332-341
Publication date2006
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
Citation (ISO format)
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. doi: 10.1086/506371
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ISSN of the journal0002-9297
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