2012 Fiscal Year Final Research Report
Clarification of (epi)genetic causes leading to the development of human imprinting disorders
| Project/Area Number |
22249010
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Hamamatsu University School of Medicine (2011-2012)
National Research Institute for Child Health and Development (2010) |
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Principal Investigator |
OGATA Tsutomu 浜松医科大学, 医学部, 教授 (40169173)
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| Co-Investigator(Kenkyū-buntansha) |
KAGAMI Masayo (独)国立成育医療研究センター研究所, 分子内分泌研究部, 室長 (70399484)
NAKABAYASHI Kazuhiko (独)国立成育医療研究センター研究所, 周産期病態研究部, 室長 (10415557)
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| Project Period (FY) |
2010 – 2012
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| Keywords | エピジェネティクス / インプリンティング / ヒト疾患 |
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| Research Abstract |
We have attempted to clarify underlying (epi)genetic mechanisms and clinical characteristics in human imprinting disorders. Representative results in uniparental disomy for chromosome 14 (upd(14)pat) and its related disorders include:
(1) clarification of underlying causes and establishment of molecular approaches;
(2) risk assessment of the advanced maternal childbearing age in the development of monosomy-rescue type upd(14)pat;
(3) identification of the imprinting centers in the body and the placenta and that of the most causative gene in the phenotypic development;
(4) repressor effects of maternally expressed RTL1as-encoded microRNAs on the paternally expressed RTL1 expression;
(5) clarification of the characteristics of the placental histopathology;
and (6) establishment of radiological diagnostic clues.
Representative results in Prader-Willi syndrome (PWS) include:
(1) clarification of underlying causes and establishment of molecular approaches;
(2) risk assessment of the advanced maternal childbearing age in the development of trisomy-rescue type upd(15)mat;
and (3) risk assessment of the medially assisted reproduction in the development of PWS.
Representative results in Silver-Russell syndrome (SRS) include:
(1) clarification of underlying causes and establishment of molecular approaches;
and (2) establishment of detailed (epi)genotype-phenotype correlations.
Furthermore, we identified a parthenogenetic chimera and an androgentic mosaic. These findings will advance the human imprinting studies.
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[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies2012
Author(s)
Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T,Arima T*
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Journal Title
Hum Reprod 27
Volume: 8
Pages: 2541-2548
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[Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations2012
Author(s)
Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T*
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Journal Title
Epigenetics 7
Volume: 10
Pages: 1142-1150
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[Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011
Author(s)
Nakabayashi K*, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, David Monk D
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Journal Title
Hum Mol Genet20
Volume: 16
Pages: 3188-97
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[Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers2010
Author(s)
Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T*
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[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
Author(s)
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Tamazawa K, Ogata T*
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Journal Title
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[Presentation] インプリンティング異常と胎盤2010
Author(s)
松岡健太郎,中澤温,林聡,左合治彦,鏡雅代,緒方勤
Organizer
第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ基調講演:Placental Mesenchymal Dysplasia (PMD)とBeckwith-Wiedemann syndrome (BMD)
Place of Presentation
熊本
Year and Date
20100930-1001
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