| Project/Area Number |
23659519
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | University of Yamanashi |
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Principal Investigator |
KUBOTA Takeo 山梨大学, 医学工学総合研究部, 教授 (70293511)
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| Co-Investigator(Kenkyū-buntansha) |
TOYODA Atsushi 国立遺伝学研究所, 生物遺伝資源情報総合センター, 特任准教授 (10267495)
SASAKI Masayuki 国立精神, 神経医療研究センター病院, 部長 (60235273)
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| Project Period (FY) |
2011 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | ゲノム / 遺伝子 / 精神発達障害 / 双生児 / 次世代シーケンサー / エピジェネティクス / エピゲノム / 自閉症 / 神経疾患 / 双子 / レット症候群 / 比較 / 精神発達 / シーケンサー |
|---|
| Research Abstract |
Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI). However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature andnurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. In the twins, no reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs), insertion-deletion polymorphisms (indels), or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues, and thus, the differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins.
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