@article {13888, title = {William{\textquoteright}s syndrome: gene expression is related to parental origin and regional coordinate control}, journal = {J Hum Genet}, volume = {54}, number = {4}, year = {2009}, note = {

J Hum Genet.\ 2009 Apr;54(4):193-8. doi: 10.1038/jhg.2009.5. Epub 2009 Mar 13.

}, month = {Apr}, pages = {193-8}, type = {Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov{\textquoteright}t}, edition = {2009/03/14}, abstract = {

William{\textquoteright}s syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24-28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

}, keywords = {*Parents, Adult, Case-Control Studies, Chromosomes, Female, Gene Expression Regulation/*genetics, Human/*genetics, Humans, Male, Middle Aged, Williams Syndrome/*genetics}, isbn = {1435-232X (Electronic)14}, url = {http://www.ncbi.nlm.nih.gov/pubmed/19282872}, author = {Collette, J. C. and Chen, X. N. and Mills, D. L. and Galaburda, A. M. and Reiss, A. L. and Bellugi, U. and Korenberg, J. R.} }