Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain

Rong Mao, Carol L. Zielke, H. Ronald Zielke, Jonathan A. Pevsner

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)457-467
Number of pages11
JournalGenomics
Volume81
Issue number5
DOIs
StatePublished - May 1 2003

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Chromosomes, Human, Pair 21
Down Syndrome
Up-Regulation
Gene Expression
Brain
Cerebral Cortex
Gene Expression Regulation
Human Chromosomes
Genes
Chromosomes
Phenotype
Cell Line

ASJC Scopus subject areas

  • Genetics

Cite this

Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. / Mao, Rong; Zielke, Carol L.; Zielke, H. Ronald; Pevsner, Jonathan A.

In: Genomics, Vol. 81, No. 5, 01.05.2003, p. 457-467.

Research output: Contribution to journalArticle

Mao, Rong ; Zielke, Carol L. ; Zielke, H. Ronald ; Pevsner, Jonathan A. / Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. In: Genomics. 2003 ; Vol. 81, No. 5. pp. 457-467.
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