AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia

Details

Serval ID
serval:BIB_5FF3C6015C5D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia
Journal
European Journal of Human Genetics
Author(s)
Amann-Zalcenstein  D., Avidan  N., Kanyas  K., Ebstein  R. P., Kohn  Y., Hamdan  A., Ben-Asher  E., Karni  O., Mujaheed  M., Segman  R. H., Maier  W., Macciardi  F., Beckmann  J. S., Lancet  D., Lerer  B.
ISSN
1018-4813 (Print)
Publication state
Published
Issued date
10/2006
Volume
14
Number
10
Pages
1111-9
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Oct
Abstract
Schizophrenia, a severe neuropsychiatric disorder, is believed to involve multiple genetic factors. A significant body of evidence supports a pivotal role for abnormalities of brain development in the disorder. Linkage signals for schizophrenia map to human chromosome 6q. To obtain a finer localization, we genotyped 180 single nucleotide polymorphisms (SNPs) in a young, inbred Arab-Israeli family sample with a limited number of founders. The SNPs were mostly within a approximately 7 Mb region around the strong linkage peak at 136.2 Mb that we had previously mapped. The most significant genetic association with schizophrenia for single SNPs and haplotypes was within a 500 kb genomic region of high linkage disequilibrium (LD) at 135.85 Mb. In a different, outbred, nuclear family sample that was not appropriate for linkage analysis, under-transmitted haplotypes incorporating the same SNPs (but not the individual SNPs) were significantly associated with schizophrenia. The implicated genomic region harbors the Abelson Helper Integration Site 1 (AHI1) gene, which showed the strongest association signal, and an adjacent, primate-specific gene, C6orf217. Mutations in human AHI1 underlie the autosomal recessive Joubert Syndrome with brain malformation and mental retardation. Previous comparative genomic analysis has suggested accelerated evolution of AHI1 in the human lineage. C6orf217 has multiple splice isoforms and is expressed in brain but does not seem to encode a functional protein. The two genes appear in opposite orientations and their regulatory upstream regions overlap, which might affect their expression. Both, AHI1 and C6orf217 appear to be highly relevant candidate genes for schizophrenia.
Keywords
Adaptor Proteins, Signal Transducing/*genetics Arabs/genetics Chromosomes, Human, Pair 6/*genetics *Genetic Predisposition to Disease Haplotypes Humans Israel Linkage Disequilibrium Open Reading Frames Polymorphism, Single Nucleotide Schizophrenia/*genetics
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:17
Last modification date
20/08/2019 14:17
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