@article{77fcb9240e2d4b0a86fb95dcc7a72898,
title = "Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain",
abstract = "Down syndrome (DS) results from complete or partial triplication of human chromosome 21. It is assumed that the neurological and other symptoms are caused by the overexpression of genes on chromosome 21, but this hypothesis has not yet been assessed on a chromosome-wide basis. Here we show that expression of genes localized to chromosome 21 is globally up-regulated in human fetal trisomy 21 cases, both in cerebral cortex extracts and in astrocytic cell lines cultured from cerebral cortex. This abnormal regulation of gene expression is specific to chromosome 21. Our data describe transcriptional changes that are specific to many genes assigned to chromosome 21 and do not directly measure the clinical phenotype of DS. However, it is possible that these gene expression changes ultimately relate to the phenotypic variability of DS.",
author = "Rong Mao and Zielke, {Carol L.} and Zielke, {H. Ronald} and Jonathan Pevsner",
note = "Funding Information: The authors thank Ok-Hee Jeon (Kennedy Krieger Institute, Baltimore, MD), Laurence Frelin (Kennedy Krieger Institute), Francisco Mart{\'i}nez Murillo (Johns Hopkins School of Medicine, Baltimore, MD), and Alan Scott (Johns Hopkins School of Public Health, Baltimore, MD) for assistance in generating and analyzing data; Roger Reeves (Johns Hopkins School of Medicine) and George Capone (Kennedy Krieger Institute) for helpful discussions on DS; Scott Zeger (Johns Hopkins School of Public Health) for advice on statistical analyses; and Kirby D. Smith (Johns Hopkins School of Medicine) for comments on the manuscript. We thank the anonymous reviewers for helpful suggestions. J.P. is supported by an MRDDRC grant from the National Institutes of Health. H.R.Z. and C.L.Z. are supported in part by NIH Grant 16596 from the National Institute of Child Health and Development. ",
year = "2003",
month = may,
day = "1",
doi = "10.1016/S0888-7543(03)00035-1",
language = "English (US)",
volume = "81",
pages = "457--467",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "5",
}