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Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region
  1. Mansur Ennuri Shmela1,2,
  2. Christine F Gicquel1,2
  1. 1Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia
  2. 2Department of Medicine, Monash University, Melbourne, Victoria, Australia
  1. Correspondence to Dr Christine Gicquel, Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, 75 Commercial Road, Melbourne, 3004 Victoria, Australia; christine.gicquel{at}


The 11p15 region is organised into two independent imprinted domains controlled by imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 genomic imprinting results in two human fetal growth disorders (Silver-Russell syndrome (SRS, MIM 180860) and Beckwith-Wiedemann syndrome (BWS, MIM 130650)) with opposite growth phenotypes. The mouse orthologous region on distal chromosome 7 (dist7) is well conserved in its organisation and its regulation. Targeted mutagenesis in mice has provided highly valuable clues in terms of the mechanisms involved in the regulation of genomic imprinting of the 11p15/dist7 imprinted region. On the other hand, the recent identification of unexpected genetic defects in BWS and SRS patients also brought new insights into the mechanisms of 11p15 imprinting regulation. However, some mouse models and human genetic defects show contradictions in term of growth phenotypes and parental transmission. In this review, we extensively analyse those various mouse and human models and more particularly models with mutations affecting the two imprinting centres, in order to improve our understanding of regulation of 11p15/dist7 genomic imprinting.

  • Genomic imprinting
  • Beckwith-Wiedemann syndrome
  • Silver-Russell syndrome
  • Fetal growth
  • CTCF

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