Establishment and diagnostic application of epigenome sequencing methods for imprinted differentially methylated regions
| Project/Area Number |
17K08689
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Nakabayashi Kazuhiko 国立研究開発法人国立成育医療研究センター, 周産期病態研究部, 室長 (10415557)
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| Project Period (FY) |
2017-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
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| Keywords | DNAメチル化 / ゲノムインプリンティング / 遺伝学的検査 / インプリンティング / エピゲノム診断 / アレル別エピゲノム解析 / クロマチン高次構造 / シーケンス / エピゲノム |
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| Outline of Final Research Achievements |
We established a catalog of 789 probes corresponding to 50 known imprinted differentially methylated regions (DMRs) on the Infinium HumanMethylationEPIC BeadChip and also identified two novel maternally methylated regions associated with PTCHD3 and JAKMIP1. We also established experimental and bioinformatic protocols to conduct amplicon bisulfite sequencing using a bench-top NGS system. These outcomes enable researchers and clinicians to more easily and rapidly conduct genome-wide DNA methylation analyses to diagnose imprinting disorder patients. We also conducted ATAC sequencing on F1 hybrid mouse 9.5dpc embryos from the reciprocal crosses of C57B6 and JF1 strains, and obtained genome-wide allele-specific open chromatin information. This dataset will help us to further elucidate regulatory mechanisms of imprinted gene expression.
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| Academic Significance and Societal Importance of the Research Achievements |
国内外のインプリンティング疾患研究者が、本研究成果の既知インプリンティング制御領域位置情報を参照し、アンプリコンバイサルファイトシーケンス法を用いることで、インプリンティング疾患症例の網羅的DNAメチル化解析をより簡便かつ迅速に実施できること、延いては当該疾患群の遺伝学的検査の網羅性向上・精度向上をもたらすと予想されること、に本研究の社会的意義がある。疾患研究における複数の応用例に留まらず、霊長類からげっ歯類までを対象としたエピゲノム制御進化研究においても本研究の成果がその推進基盤となったことは、本研究成果の学術的意義が広範分野に及ぶことを示している。
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Report
(5 results)
Research Products
(35 results)
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[Journal Article] Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.2020
Author(s)
Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa R-S, Obuse C, Miyado K, Ogata T, Fukami M and Miyado M.
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Journal Title
Scientific Reports
Volume: 10
Issue: 1
Pages: 10985-10985
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome2020
Author(s)
Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M.
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Journal Title
Journal of Medical Genetics
Volume: -
Issue: 6
Pages: 107019-107019
DOI
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Peer Reviewed / Open Access
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[Journal Article] Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform2018
Author(s)
Jose Ramon Hernandez Mora, Chiharu Tayama, Marta Sanchez-Delgado, Ana Monteagudo-Sanchez, Kenichiro Hata, Tsutomu Ogata, Jose Medrano, Maria Eugenia Poo-Llanillo, Carlos Simon, Sebastian Moran, Manel Esteller, Jair Tenorio, Pablo Lapunzina, Masayo Kagami, David Monk, Kazuhiko Nakabayashi
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Journal Title
Related Report
Peer Reviewed / Int'l Joint Research
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