Top > Search Research paper > (In Japanese)ゲノムインプリンティング制御の分子機構

(In Japanese)ゲノムインプリンティング制御の分子機構

Research report code R000000122
Posted date Sep 30, 2002
  • (In Japanese)押村 光雄
  • (In Japanese)鳥取大学医学部
Research organization
  • (In Japanese)鳥取大学医学部
Report name (In Japanese)ゲノムインプリンティング制御の分子機構
Technology summary (In Japanese)ゲノムインプリンティング(ゲノム刷り込み現象)とは,父親と母親由来の遺伝子が識別され異なる発現レベルを示す現象であり,どのようなメカニズムでこの現象が制御されているのかを知ることは,生物進化のプロセスや遺伝子発現制御のメカニズムを知る上で重要である。また,インプリンティングの異常は発生異常やがんの発生に深く関わりをもつため,新規のインプリント遺伝子の発見や制御メカニズムの解明はヒト疾患の原因解明や治療法の開発にきわめて重要である。新しく確立したインプリンティング解析システムにより,過成長症候群の原因遺伝子であるLIT1を単離し,さらにLIT1が近傍の刷り込み状態を規定するインプリンティングセンターとして機能することを明らかにしてきた。今後は,これらの解析システムを用いてゲノムインプリンティングの生物学的意義やその制御機構を明らかにする。
Research field
  • Genetics in general
  • Research methods in genetics
  • Genetic variation
  • Gene expression
  • Cell physiology in general
Published papers related (In Japanese)(1)Meguro, M., Mitsuya, K., Sui. H., Shigenami, K., Kugoh, H., Nakao, M. and Oshimura, M.: Evidence for paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. Hum. Mol. Genet., 6: 2127-2133, 1997
(2)Mitsuya, K., Sui, H., Meguro, M., Kugoh, H., Jinno,Y.,Niikawa, N. and Oshimura, M.: Paternal expression of WT1 in human fibroblasts and lymphocytes. Hum. Mol. Genet., 6: 2243-2246, 1997
(3)Mitsuya, K,. Meguro, M., Sui, H., Schulz, T.C., Kugoh, H.,Hamada, H. and Oshimura M.: Developmental reprogramming of the human H19 gene in mouse embryonic cells does not erase the primary parental imprint. Genes to Cells, 3 : 245-255, 1998
(4)Kugoh, H.. Mitsuya, K., Meguro, M., Shigenami, K., Schulz, T.C. and Oshimura, M.: Mouse A9 cells containing single human chromosomes for analysis of genomic imprinting. DNA Res., 6: 165-172, 1999
(5)Mitsuya, K., Meguro, M., Lee, M.P., Katoh, M., Schulz, T.C., Kugoh, H., Yoshida, M.A., Niikawa, N., Feinberg, A.P. and Oshimura, M.: LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum. Mol. Genet., 8: 1209-1217, 1999
(6)Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, and Feinberg AP: Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of IGF2 imprinting. Proc. Natl. Acad. Sci., USA, 96:5203-5208, 1999
(7)Nishihara, S., Hayashida, T., Mitsuya, K., Schulz, T.C., Ikeguchi, M., Kaibara, N. and Oshimura, M.: Multipoint imprinting analysis in sporadic colorectal cancers with and without microsatellite instability. Intl. J. Oncol., 17: 317-322, 2000
(8)Arima, T., Drewell, R.A., Oshimura, M., Wake, N. and Surani, M.A.: A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. Genomics, 67: 248-255, 2000
(9)Tanabe, H.,Nakagawa, Y., Minegishi, D., Hashimoto, K., Tanaka, N., Oshimura, M., Sofuni, T. and Mizusawa, H.: Human monochromosome hybrid cell panel characterized by FISH in the JCRB/HSRRB. Chromosome Res., 8: 319-34, 2000
(10)Horike, S., Mitsuya, K., Meguro, M., Kotobuki, N., Kashiwagi, A., Notsu, T., Schulz, T.C., Shirayoshi, Y. and Oshimura, M.: Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in beckwith-wiedemann syndrome. Hum. Mol. Genet., 9: 2075-83, 2000
(11)Engel, J.R., Smallwood. A., Harper,A., Higgins, M.J., Oshimura, M., Reik, W., Schofield, P,N. and Maher, E.R.: Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J. Med. Genet., 37: 921-926, 2000
(12)Meguro, M., Mitsuya, K., Nomura, N., Kohda, M., Kashiwagi, A., Nishigaki, R., Yoshioka, H., Nakao, M., Oishi, M. and Oshimura, M.: Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resmblin small nucleolar RNA genes. Hum. Mol. Genet., 10:383-394, 2001
(13)Tanaka K, Shiota G, Meguro M, Mitsuya K, Oshimura M, Kawasaki H.: Loss of imprinting of long qt intronic transcript 1 in colorectal cancer. Oncology, 60: 268-273, 2001
(14)Inoue, J., Mitsuya, K., Maegawa, S., Kugoh, H., Kadota, M., Shinohara, T., Nishihara, S., Takehara, S., Yamauchi, K., Schulz, T.C. and Oshimura, M.: Construction of 700 human/mouse A9 monochromosomal hybrids and analysis of imprinted genes on human chromosome 6. J. Hum. Genet., 46: 137-145, 2001
(15)Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S. and Oshimura, M.: A novel maternally expressed gene, ATP10C, encoding a putative aminophospholipid translocase associated with Angelman syndrome. Nat. Genet., 28:19-20, 2001
(16)Sakatani, T., Wei, M., katoh, M., Okita, C., Wada, D., Mitsuya, K., Meguro, M., Ikeguchi, M., Ito., Tycko, B. and Oshimura, M.:Epigenetic heterogeneity at imprinted loci in normal popukations. Biochem. Biophys. Res. Commun., 283:1124-1130, 2001
(17)Maegawa, S., Yoshioka, H., Itaba, N., Kubota, N., Nishihara, S., Shirayoshi, Y., Nanba, E. and Oshimura, M.: Epigenetic silencing of PGE3 gene expression in human glioma cell lines. Mol. Carcinog., 31(1): 1-9, 2000
(18)Arima, T., Drewell, R.A., Arney, K.L., Inoue, J., Makita, Y., Hata, A., Oshimura, M., Wake, N. and Surani, M.A.: A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum. Mol. Genet., 10(14): 1475-83, 200l
(19)Kohda, M., Hoshiya, H., Katoh, M., Tanaka, I., Masuda, R., Takemura, T., Fujiwara, M. and Oshimura, M.: Frequent loss of imprinting of IGF2 and PEGl/MEST in lung adenocarcinoma. Mol. Carcinog., 31(4): 184-91, 2001
Research project
  • Core Research for Evolutional Science and Technology;Genetic Programming
Information research report
  • (In Japanese)押村 光雄. 生命活動のプログラム ゲノムインプリンティング制御の分子機構. 戦略的基礎研究推進事業 平成11年度 研究年報.科学技術振興事業団, 2000. p.77 - 86.