Comparison of genomic and epigenomicexpression in monozygotic twins using next-generation sequencing.
| 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 |
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| 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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Report
(3 results)
Research Products
(34 results)
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[Journal Article] Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome2013
Author(s)
Miyake K,Yang C,Minakuchi Y, OhoriK,Soutome M,HirasawaT,KazukiY, Adachi N,Suzuki S, Itoh M, Goto Y, Andoh T, KurosawaH, OshimuraM, SasakiM, Toyoda A, Kubota T
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Peer Reviewed
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[Journal Article] Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.2012
Author(s)
Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, Emi M, Endoh K, Sohma R, Kido Y, Nagai T, Kubota T.
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Journal Title
Hum Genet
Volume: 131
Pages: 121-130
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Peer Reviewed
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[Journal Article] The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome.2011
Author(s)
Miyake K, Hirasawa T, Soutome M, Itoh M, Goto Y, Endoh K, Takahashi K, Kudo S, Nakawaga T, Yokoi S, Taira T, Inazawa J, Kubota T
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Peer Reviewed
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[Presentation] Validation of DOHaD theory using mouse model: Effect of nutritional condition on gene expression of neonate brain and liver.2012
Author(s)
Furuse T, Kohda T, Kushida T, Yamada I, Miura I, Ozaki A, Kaneda H, Kobayash K, Ishino F, Kubota T, Wakana S.
Organizer
第35回日本神経科学大会
Place of Presentation
名古屋国際会議場（愛知県）
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[Book] The Mechanisms of DNA Replictaion2012
Author(s)
Kubota T, Miyake K, Hirasawa T. Section 4
Publisher
Chromatin and Epigenetic Influences on DNA Replication, Chapter 13: The Mechanism of Epigenetic Modifications during DNA Replication
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