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HIRA基因在先天性心脏病发病机制中的作用

The role of HIRA gene in the pathogenesis of congenital heart disease
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摘要 圆锥动脉干畸形是引起婴幼儿早期死亡的主要心血管畸形之一。研究表明，圆锥动脉干畸形与22号染色体长臂的微缺失有密切关系，其中，位于该染色体相关区域的HIRA基因被推测可能是与这一类型先天性心脏病发病具有重要关系的候选基因。 Conotruncal defects（CTD） is a kind of severe cardiovascular abnormality, which is the major cause of death in rinatal period. Some researches suggest that CTD and 22q11 microdeletion had close relationship. In addition, HIRA gene is located in 22q11, which was speculated as a caadidate gene in CTD.
作者 张璟(综述) 黄国英(审校)
机构地区 复旦大学附属儿科医院心血管中心
出处 《国际儿科学杂志》 2010年第1期65-68,共4页 International Journal of Pediatrics
关键词 HIRA 圆锥动脉干畸形 22Q11微缺失 HIRA Conotruncal defect 22q11 microdeletion
分类号 R541.1 [医药卫生—心血管疾病] R363.14 [医药卫生—病理学]
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  • 1Matsuaka R, Kimura M, Scamber PJ, et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet, 1998, 103( 1 ) :70-80.
  • 2Lamour V.Leluse Y,Desmaze C.et al A human homolog of the S.Cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. Hum Mol Genet, 1995,4(5) :791-799.
  • 3Spector MS,Raff A,DeSilva H,et al.Hirlp and Hir2p function as transcriptional compressors to regulate histone gene transcription in the sacchraomyces cerevisiae cell cycle. Mol Cell Biol, 1997,17(2) :545-552.
  • 4Hall C, Nelson DM, Ye X, et al. Hira, the human homologue of yeast hirlp and hir2p, is a novel cyclin-cdk2 substrate whose expression blocks Sphase progression. Mol Cell Biol,2001,21(5) : 1954-1965.
  • 5Llevadot R, Scambler P, Estivill X, et al. Genomic organization of TUPLE1/ HIRA: a gene implicated in DiGeorge syndrome. Mamm Geno, 1996, 7 (12) :911-914.
  • 6Llevadot R, Marques G, Pritchard M, et al. Cloning, chromosome mapping and expression analysis of the HIRA gene frome Drosophila melanogaster. Biochem Biophys Res Commun 1998,249(2):486-491.
  • 7Kirov N, Shtilbans A, Rushlow C. Isolation and characteriztion of a new gene encoding a member of the hira family of proteins from drosophila melanogaster. Gene, 1998,212(2) : 323-332.
  • 8Bonnefoy E, Orsi GA, Couble P, et al. The essential role of drosophila HIRA for de novo assembly of paternal chromatin at fertilization. Plos Gene,2007,10(3) : 1991-2006.
  • 9Roberts C,Daw SC,Halford S,et al. Cloning and developmental expression analysis of chick Hira(Chira),a candidate gene for DiGeorge syndrome. Hum Mol Genet, 1997,6(2) :237-245.
  • 10Farrell MJ,Stadt H, Wallis Kr, et al. HIRA, a DiGeorge syndrome candidate gene,is required for cardiac outflow tract septation. Circ Res, 1999,84(2):127-135.
国际儿科学杂志
2010年 第1期

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