IMED2004 Study Guide - Final Guide: Cyclin-Dependent Kinase Inhibitor 1C, Insulin-Like Growth Factor 2, Chromosomal Rearrangement
Document Summary
Some patients have maternal chromosomal rearrangement around this region. Some have 2 copies of chr 11 called paternal disomy. Patients with abnormal dna methylation patterns across this region. (only 1 copy of this region of chr 11) Large majority of these genes are genetically imprinted. 2 copies of dad because too many active genes in dad instead of mother. Igf2 only in paternal, mothers silenced. Can be upstream or downstream from promoters. Member of a homologous pair of chromosomes that originally came from the female gamete. At imprinting control region, particular transcription factor called ctcf bound to control region. = insulator element which blocks transc of various gene. 2 enhancer elements then drive expression of h19 (green arrow) Other enhance cannot express igf2 because of insulator presence. Methylation also in second imprinting control there. = which turns off expression of suppressor rna meaning. Kcnq1 gene can be expressed and cdkn1c gene can be expressed.
