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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The intellectual disability of trisomy 21: Differences in gene expression in a case series of patients with lower and higher IQ
European Journal of Human Genetics, Volume 21, No. 11, Year 2013
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Description
Trisomy 21 (T21), or Down syndrome (DS), is the most frequent and recognizable cause of intellectual disabilities. The level of disability, as evaluated by the intelligence quotient (IQ) test, varies considerably between patients independent of other factors. To determine the genetic or molecular basis of this difference, a high throughput transcriptomic analysis was performed on twenty T21 patients with high and low IQ, and 10 healthy controls using Digital Gene Expression. More than 90 millions of tags were sequenced in the three libraries. A total of 80 genes of potential interest were selected for the qPCR experiment validation, and three housekeeping genes were used for normalizing purposes. HLA DQA1 and HLA DRB1 were significantly downregulated among the patients with a low IQ, the values found in the healthy controls being intermediate between those noted in the IQ+ and IQ-T21 patients. Interestingly, the intergenic region between these genes contains a binding sequence for the CCCTC-binding factor, or CTCF, and cohesin (a multisubunit complex), both of which are essential for expression of HLA DQA1 and HLA DRB1 and numerous other genes. Our results might lead to the discovery of genes, or genetic markers, that are directly involved in several phenotypes of DS and, eventually, to the identification of potential targets for therapeutic interventions. © 2013 Macmillan Publishers Limited.
Authors & Co-Authors
Megarbane, Andre
France, Paris
Institut Jérôme Lejeune
Lebanon, Beirut
Inserm
Noguier, Florian
France, Montpellier
Skuldtech
Stora, Samantha
France, Paris
Institut Jérôme Lejeune
Manchon, Laurent
France, Montpellier
Skuldtech
Mircher, Clotilde
France, Paris
Institut Jérôme Lejeune
Bruno, Roman
France, Montpellier
Skuldtech
Dorison, Nathalie
France, Paris
Institut Jérôme Lejeune
Pierrat, Fabien
France, Montpellier
Skuldtech
Réthoré, Marie Odile
France, Paris
Institut Jérôme Lejeune
Trentin, Bernadette
France, Montpellier
Skuldtech
Ravel, Aimé
France, Paris
Institut Jérôme Lejeune
Morent, Marine
France, Montpellier
Skuldtech
Lefranc, Gérard
France, Montpellier
Université de Montpellier
Piquemal, D.
France, Montpellier
Skuldtech
Statistics
Citations: 27
Authors: 14
Affiliations: 4
Identifiers
Doi:
10.1038/ejhg.2013.24
ISSN:
10184813
e-ISSN:
14765438
Research Areas
Disability
Genetics And Genomics
Study Approach
Quantitative