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 language | English (US) |
|---|---|
| Pages (from-to) | 457-467 |
| Number of pages | 11 |
| Journal | Genomics |
| Volume | 81 |
| Issue number | 5 |
| DOIs | |
| State | Published - May 1 2003 |
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ASJC Scopus subject areas
- Genetics
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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 journal › Article
}
TY - JOUR
T1 - Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain
AU - Mao, Rong
AU - Zielke, Carol L.
AU - Zielke, H. Ronald
AU - Pevsner, Jonathan A.
PY - 2003/5/1
Y1 - 2003/5/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0037403505&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037403505&partnerID=8YFLogxK
U2 - 10.1016/S0888-7543(03)00035-1
DO - 10.1016/S0888-7543(03)00035-1
M3 - Article
C2 - 12706104
AN - SCOPUS:0037403505
VL - 81
SP - 457
EP - 467
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 5
ER -