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雑誌文献

臨床検査52巻6号

2008年06月発行

文献概要

今月の主題 エピジェネティクスと臨床検査 トピックス

ゲノムインプリンティング機構と疾患

著者: 副島英伸1

所属機関: 1佐賀大学医学部分子生命科学講座分子遺伝学エピジェネティクス分野

ページ範囲:P.683 - P.688

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1.はじめに

 ゲノムインプリンティングは,両親から受け継いだ一対の対立遺伝子のうち,その親の性に従って一方の親由来の遺伝子のみが発現する現象である.ゲノムインプリンティングを受ける遺伝子(インプリント遺伝子)は,胎児や胎盤の発育・成長にかかわるものが多い.インプリンティングに異常が起きると様々な疾患が発症する.本稿では,現在までにわかっているゲノムインプリンティング調節機構とヒト疾患との関連を解説する.

参考文献

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)is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet 40:797-801, 2003
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9) Gicquel C, Rossignol S, Cabrol S, et al:Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37:1003-1007, 2005
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13) Mackay DJ, Coupe AM, Shield JP, et al:Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum Genet 110:139-144, 2002
14) Kagami M, Sekita Y, Nishimura G, et al:Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 40:237-242, 2008
15) Jelinic P, Shaw P:Loss of imprinting and cancer. J Pathol 211:261-268, 2007
16) Kaneda A, Feinberg AP:Loss of imprinting of IGF2:a common epigenetic modifier of intestinal tumor risk. Cancer Res 65:11236-11240, 2005
17) Jacob S, Moley KH:Gametes and embryo epigenetic reprogramming affect developmental outcome:implication for assisted reproductive technologies. Pediatr Res 58:437-446, 2005
18) Varrault A, Gueydan C, Delalbre A, et al:Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell 11:711-722, 2006

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

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