2006 Fiscal Year Final Research Report Summary
Consortium study of search for susceptibility genes of pervasive developmental disorder
| Project/Area Number |
16390320
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Psychiatric science
|
|---|
| Research Institution | The University of Tokyo |
|---|
Principal Investigator |
SASAKI Tsukasa The University of Tokyo, Health Service Center, Associate Professor, 保健センター, 助教授 (50235256)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
KATO Nobumasa The University of Tokyo, Graduate School of Medicine, Professor, 医学系研究科, 教授 (10106213)
NANBA Eiji Tottori University, Life Function Research Support Center, Professor, 生命機能研究支援センター, 教授 (40237631)
YAMAMOTO Kenji Kitasato University, Faculty of Medicine, Lecturer, 医学部, 講師 (10287071)
MATSUMOTO Hideo Tokai University, Faculty of Medicine, Professor, 医学部, 助教授 (90199886)
|
|---|
| Project Period (FY) |
2004 – 2006
|
| Keywords | Pervasive developmental disorder / autism / susceptibility gene / association study / DNA methylation / poly-histidine repeat / ADHD / mutation |
|---|
| Research Abstract |
This consortium study aimed to detect susceptibility genes of pervasive developmental disorders (PDD) including autism. We are recruiting PDD patients and the families, and thus far collected more than 300 hundred DNA samples of autism and other PDD patients, with the families' DNA in 240 patients. We analyzed candidate genes on the long-arm regions of choromosomes 2, 7 and 15 using the sample. The most extensively investigated were the genes on the chromosome 7 region, including TAC1, NPTX2, RELN, LAMB1, LAMB4, NRCAM, S-SCAM, FOXP2, PTPRZ1, WNT2, NPTX2 and other. We observed a significant association of the NRCAM polymorphisms, but no association of other genes, with PDD. In addition, we searched for a mutation in exons of a neuroligin-related molecule in PDD subjects, but no mutation has been found thus far. We also studied the Histidine region of the HOXA1 gene and found a novel polymorphism in autism patients. While the polymorphism finally proved to be not associated with autism, it caused a disturbance of cellular function which may lead to abnormal neuronal differentiation. It may be interesting to study what kind of developmental disorder the polymorphism is associated with. Other studies we conducted were an examination of the FMR triplet-repeat polymorphism (not the abnormal expansion), which was not associate with autism as a result, and an investigation of the allele-specific expression of MECP2 gene in lymphoblast from subjects with Rett syndrome. Mutation was observed in the methylated CpG binding domain of the gene in a half of the subjects. The mutation allele was not expressed however in most of the lymphoblast with the mutation.
|
Research Products
(24 results)
-
-
[Journal Article] No association between the Neuronal Pentraxin II gene polymorphism and autism2007
Author(s)
Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Ishijima M, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe E, Kano Y, Kato N, Sasaki T
-
Journal Title
Progress in Neuropsycopharmacology and Biological Psychiatry 31
Pages: 940-943
Description
「研究成果報告書概要(和文)」より
-
-
-
[Journal Article] No association between the Neuronal Pentraxin II gene polymorphism and autism.2007
Author(s)
Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Ishijima M, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe E, Kano Y, Kato N, Sasaki T.
-
Journal Title
Progress in Neuropsycopharmacology and Biological Psychiatry 31
Pages: 940-943
Description
「研究成果報告書概要(欧文)」より
-
-
[Journal Article] Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism. A case-control study2006
Author(s)
Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N, Sasaki T
-
Journal Title
Brain and Development (Epub ahead of print)
Description
「研究成果報告書概要(和文)」より
-
[Journal Article] Serotonin transporter gene promotor polymorphism and autism : a family-based genetic association study in Japanese population2006
Author(s)
Koishi S, Yamamoto K, Matsumoto H, Koishi S, Enseki Y, Oya A, Aaskura A, Aoki Y, Atsumi M, Iga T, Inomata J, Inoko H, Sasaki T, Nanba E, Kato N, Ishii T, Yamazaki K
-
Journal Title
Brain and Development 28
Pages: 257-260
Description
「研究成果報告書概要(和文)」より
-
[Journal Article] Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism. A case-control study.2006
Author(s)
Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N, Sasaki T.
-
Journal Title
Brain and Development. (Epub ahead of print)
Description
「研究成果報告書概要(欧文)」より
-
[Journal Article] Serotonin transporter gene promotor polymorphism and autism : a family-based genetic association study in Javanese population.2006
Author(s)
Koishi S, Yamamoto K, Matsumoto H, Koishi S, Enseki Y, Oya A, Aaskura A, Aoki Y, Atsumi M, Iga T, Inomata J, Inoko H, Sasaki T, Nanba E, Kato N, Ishii T, Yamazaki K.
-
Journal Title
Brain and Development 28
Pages: 257-60
Description
「研究成果報告書概要(欧文)」より
-
-
[Journal Article] No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population2005
Author(s)
Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Kato C, Ishijima M, Watanabe K, Kasai K, Kato N, Sasaki T^*
-
Journal Title
Neuroscience Research 53
Pages: 91-94
Description
「研究成果報告書概要(和文)」より
-
-
-
-
[Journal Article] No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.2005
Author(s)
Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Kato C, Ishijima M, Watanabe K, Kasai K, Kato N, Sasaki T^*.
-
Journal Title
Neuroscience Research 53
Pages: 91-94
Description
「研究成果報告書概要(欧文)」より
-
-
-
-
-
-
-
-
