Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
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.
Merla
Giuseppe
G
Center for Integrative Genomics, Genopode Building, University of Lausanne, Lausanne, Switzerland.
Howald
Cédric
C
Henrichsen
Charlotte N
CN
Lyle
Robert
R
Wyss
Carine
C
Zabot
Marie-Thérèse
MT
Antonarakis
Stylianos E
SE
Reymond
Alexandre
A
D002461:Cell Line, Transformed; D002478:Cells, Cultured; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D018980:Williams Syndrome / Q000235:genetics*