Trouble du développement fœtal liés au chromosome 11p15 chez l’être humain : modèles pour l’étude de l’empreinte parentale

Résumé

The 11p15 region is organized into two independent imprinted domains controlled by imprinting con trol regions (ICR1 and ICR2) which carry opposite gerrnline 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.

Recently described genetic lesions associated with BWS have provided new insights in to the possible mechanisms of germ line establishment or somatic maintenance of imprints at ICRl and ICR2. We will discuss the role of pluripotency factors in the regulation of genomic imprinting of the IGF2/H/9 ICR1 domain. We will also discuss a novel cis-regulatory region involved in the regulation of genomic imprinting of the CDKNICIKCNQJ ICR2 domain.

Références

Demars et al., Hum Mol Genet, 2010, 19:803.

Demars et al., Hum Mut, 2011, 32:1171.

Shmela et al., J Med Genet, 2013, 50:11.