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Genomic copy number variation analysis in multiple system atrophy
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| Title: | Genomic copy number variation analysis in multiple system atrophy |
| Authors: | Hama, Yuka Browse this author | | Katsu, Masataka Browse this author | | Takigawa, Ichigaku Browse this author →KAKEN DB | | Yabe, Ichiro Browse this author →KAKEN DB | | Matsushima, Masaaki Browse this author →ORCID | | Takahashi, Ikuko Browse this author | | Katayama, Takayuki Browse this author | | Utsumi, Jun Browse this author | | Sasaki, Hidenao Browse this author →KAKEN DB |
| Keywords: | Genomic DNA | | Copy number variation | | Multiple system atrophy | | Array-comparative genome hybridization |
| Issue Date: | 29-Nov-2017 |
| Publisher: | BioMed Central |
| Journal Title: | Molecular brain |
| Volume: | 10 |
| Start Page: | 54 |
| Publisher DOI: | 10.1186/s13041-017-0335-6 |
| Abstract: | Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). CNVs affect gene expression by altering the genome structure and transposable elements within a region. CNVs are greater than 1 kb in size; hence, CNVs can produce more variation than can individual single-nucleotide variations that are detected by next-generation sequencing. Multiple system atrophy (MSA) is an α-synucleinopathy adult-onset disorder. Pathologically, it is characterized by insoluble aggregation of filamentous α-synuclein in brain oligodendrocytes. Generally, MSA is sporadic, although there are rare cases of familial MSA. In addition, the frequencies of the clinical phenotypes differ considerably among countries. Reports indicate that genetic factors play roles in the mechanisms involved in the pathology and onset of MSA. To evaluate the genetic background of this disorder, we attempted to determine whether there are differences in CNVs between patients with MSA and normal control subjects. We found that the number of CNVs on chromosomes 5, 22, and 4 was increased in MSA; 3 CNVs in non-coding regions were considered risk factors for MSA. Our results show that CNVs in non-coding regions influence the expression of genes through transcription-related mechanisms and potentially increase subsequent structural alterations of chromosomes. Therefore, these CNVs likely play roles in the molecular mechanisms underlying MSA. |
| Rights: | http://creativecommons.org/licenses/by/4.0/ |
| Type: | article |
| URI: | http://hdl.handle.net/2115/68334 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 佐々木 秀直
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