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Constitutional downregulation of SEMA5A expression in autism
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2006 (English)In: Neuropsychobiology, ISSN 0302-282X, E-ISSN 1423-0224, Vol. 54, no 1, 64-69 p.Article in journal (Refereed) Published
Abstract [en]

There is strong evidence for the importance of genetic factors in idiopathic autism. The results from independent twin and family studies suggest that the disorder is caused by the action of several genes, possibly acting epistatically. We have used cDNA microarray technology for the identification of constitutional changes in the gene expression profile associated with idiopathic autism. Samples were obtained and analyzed from 6 affected subjects belonging to multiplex autism families and from 6 healthy controls. We assessed the expression levels for approximately 7,700 genes by cDNA microarrays using mRNA derived from Epstein-Barr virus-transformed B lymphocytes. The microarray data were analyzed in order to identify up- or downregulation of specific genes. A common pattern with nine downregulated genes was identified among samples derived from individuals with autism when compared to controls. Four of these nine genes encode proteins involved in biological processes associated with brain function or the immune system, and are consequently considered as candidates for genes associated with autism. Quantitative real-time PCR confirms the downregulation of the gene encoding SEMA5A, a protein involved in axonal guidance. Epstein-Barr virus should be considered as a possible source for altered expression, but our consistent results make us suggest SEMA5A as a candidate gene in the etiology of idiopathic autism.

Place, publisher, year, edition, pages
2006. Vol. 54, no 1, 64-69 p.
Keyword [en]
autistic disorder, cDNA microarrays, gene expression, chromosome 7q31, SEMA5A
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-15934DOI: 10.1159/000096040ISI: 000241989200096PubMedID: 17028446OAI: oai:DiVA.org:uu-15934DiVA: diva2:43705
Available from: 2008-03-20 Created: 2008-03-20 Last updated: 2011-05-12Bibliographically approved

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Melin, MalinIsaksson, AndersDahl, Niklas
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