2013 Fiscal Year Final Research Report
Paternal uniparental disomy 14 and related conditions: Placental expression analyses and histological examination
| Project/Area Number |
23390083
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | National Research Institute for Child Health and Development |
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Principal Investigator |
KAGAMI Masayo 独立行政法人国立成育医療研究センター, その他部局等, その他 (70399484)
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| Co-Investigator(Kenkyū-buntansha) |
松岡 健太郎 国立成育医療研究センター, 病理診断部 (90286443)
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| Co-Investigator(Renkei-kenkyūsha) |
遠藤 大輔 東京医科歯科大学, 難治疾患研究所, エピジェネティクス分野 (90516288)
遠藤 大輔 長崎大学, 大学院・医歯薬学総合研究科, 組織細胞生物学分野 (90516288)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Keywords | エピジェネティクス / ゲノムインプリンティング |
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| Research Abstract |
We performed placental study of two cases with UPD(14)pat and a case with maternal microdeletion involving DLK1, DMRs and MEG3. RTL1 and DLK1 expressed only in endothelial cells of villous vessels. In the placentas of UPD(14)pat revealing placentomegaly, the expression of DLK1 and RTL1 increased, even though in the placenta of a case with microdeletion revealing placentomegaly, only the expression of RTL1 increased. Electron microscopic study showed hyperplasia of the endothelial cells and the pericytes in the placentas of UPD(14)pat. Expression analysis using placentas of UPD(14)pat showed excessive RTL1 expression above the normal control levels because of a synergic effect between the biallelic activation of RTL1 and loss of functional microRNA in RTL1as as a repressor for RTL1. These results indicate that excessive RTL1 expression causes placentomegaly and RTL1 expression is regulated through an RNAi mechanism. RTL1 may play an essential role in the development of human placenta.
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Research Products
(47 results)
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[Journal Article] TDAG8 activation inhibits osteoclastic bone resorption2014
Author(s)
Hikiji H, Endo D, Horie K, Harayama T, Akahoshi N, Igarashi H, Kihara Y, Yanagida K, Takeda J, Koji T, Shimizu T, Ishii S
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Journal Title
FASEB Journal
Volume: 28(2)
Pages: 871-879
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[Journal Article] Molecular and clinical studies in 138 Japanese patients with silver-russell syndrome2013
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, Yamazawa K, Ogata T
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Journal Title
PLoS One
Volume: 8(3)
Pages: e60105
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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
Volume: 7 (10)
Pages: 1142-1150
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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
Human Reproduction
Volume: 27(8)
Pages: 2541-2548
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[Presentation] 14 番染色体母親性ダイソミーおよび類縁疾患に関する全国調査 : 遺伝学的頻度および臨床像2012
Author(s)
鏡雅代, 長崎啓祐, 佐藤英利, 鹿島京子, 依藤亨, 中村明枝, 加藤光広, 沼倉周彦, 緒方勤, 深見真紀, 斉藤伸治
Organizer
第46回日本小児内分泌学会
Place of Presentation
大阪
Year and Date
20120000
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[Presentation] RTL1 遺伝子の胎盤における機能の解明 : 胎盤発育不全, 子宮内胎児発育遅延の原因解明をめざして2011
Author(s)
鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 松原圭子, 深見真紀, 山中美智子, 鈴森伸宏, 永井敏郎, 緒方勤
Organizer
第45回日本小児内分泌学会学術集会
Place of Presentation
埼玉
Year and Date
20110000
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