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Constitutional downregulation of SEMA5A expression in autism

Melin, M; Carlsson, B; Anckarsäter, Henrik LU ; Råstam, Maria LU ; Betancur, C; Isaksson, A; Gillberg, C and Dahl, N (2006) In Neuropsychobiology 54(1). p.64-69
Abstract
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... (More)
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. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cDNA microarrays, Gene expression, SEMA5A, Chromosome 7q31, methods, Reverse Transcriptase Polymerase Chain Reaction, methods -Autistic disorder, Oligonucleotide Array Sequence Analysis, metabolism, genetics, Nerve Tissue Proteins, Membrane Proteins, Male, Humans, Genetic Predisposition to Disease, physiology, Female, Down-Regulation, Preschool, Child, -Adolescent, Autistic Disorder
in
Neuropsychobiology
volume
54
issue
1
pages
64 - 69
publisher
Karger
external identifiers
  • pmid:17028446
  • scopus:33750687891
ISSN
0302-282X
DOI
10.1159/000096040
language
English
LU publication?
no
id
175a0b98-972c-4948-88ca-7b58119e6580 (old id 1135556)
date added to LUP
2008-06-13 13:59:10
date last changed
2019-09-04 01:42:06
@article{175a0b98-972c-4948-88ca-7b58119e6580,
  abstract     = {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.},
  author       = {Melin, M and Carlsson, B and Anckarsäter, Henrik and Råstam, Maria and Betancur, C and Isaksson, A and Gillberg, C and Dahl, N},
  issn         = {0302-282X},
  keyword      = {cDNA microarrays,Gene expression,SEMA5A,Chromosome 7q31,methods,Reverse Transcriptase Polymerase Chain Reaction,methods -Autistic disorder,Oligonucleotide Array Sequence Analysis,metabolism,genetics,Nerve Tissue Proteins,Membrane Proteins,Male,Humans,Genetic Predisposition to Disease,physiology,Female,Down-Regulation,Preschool,Child,-Adolescent,Autistic Disorder},
  language     = {eng},
  number       = {1},
  pages        = {64--69},
  publisher    = {Karger},
  series       = {Neuropsychobiology},
  title        = {Constitutional downregulation of SEMA5A expression in autism},
  url          = {http://dx.doi.org/10.1159/000096040},
  volume       = {54},
  year         = {2006},
}