Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

被引:25
作者
Prawitt, D
Enklaar, T
Gärtner-Rupprecht, B
Spangenberg, C
Lausch, E
Reutzel, D
Fees, S
Korzon, M
Brozek, I
Limon, J
Housman, DE
Pelletier, J
Zabel, B
机构
[1] Univ Mainz, Childrens Hosp, D-55101 Mainz, Germany
[2] Med Univ Gdansk, Dept Biol & Genet, Gdansk, Poland
[3] MIT, Ctr Canc Res, Cambridge, MA 02139 USA
[4] McGill Univ, Dept Biochem, Montreal, PQ H3G 1Y6, Canada
[5] McGill Univ, McGill Canc Ctr, Montreal, PQ H3G 1Y6, Canada
关键词
D O I
10.1038/ng0805-785
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:785 / 786
页数:2
相关论文
共 7 条
  • [1] Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
    Bell, AC
    Felsenfeld, G
    [J]. NATURE, 2000, 405 (6785) : 482 - 485
  • [2] Nucleosome positioning signals in the DNA sequence of the human and mouse H19 imprinting control regions
    Davey, C
    Fraser, R
    Smolle, M
    Simmen, MW
    Allan, J
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 2003, 325 (05) : 873 - 887
  • [3] CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
    Hark, AT
    Schoenherr, CJ
    Katz, DJ
    Ingram, RS
    Levorse, JM
    Tilghman, SM
    [J]. NATURE, 2000, 405 (6785) : 486 - 489
  • [4] Multiple nucleosome positioning sites regulate the CTCF-mediated insulator function of the H19 imprinting control region
    Kanduri, M
    Kanduri, C
    Mariano, P
    Vostrov, AA
    Quitschke, W
    Lobanenkov, V
    Ohlsson, R
    [J]. MOLECULAR AND CELLULAR BIOLOGY, 2002, 22 (10) : 3339 - 3344
  • [5] Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops
    Murrell, A
    Heeson, S
    Reik, W
    [J]. NATURE GENETICS, 2004, 36 (08) : 889 - 893
  • [6] Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor
    Prawitt, D
    Enklaar, T
    Gärtner-Rupprecht, B
    Spangenberg, C
    Oswald, M
    Lausch, E
    Schmidtke, P
    Reutzel, D
    Fees, S
    Lucito, R
    Korzon, M
    Brozek, L
    Limon, J
    Housman, DE
    Pelletier, J
    Zabel, B
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (11) : 4085 - 4090
  • [7] Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
    Sparago, A
    Cerrato, F
    Vernucci, M
    Ferrero, GB
    Silengo, MC
    Riccio, A
    [J]. NATURE GENETICS, 2004, 36 (09) : 958 - 960