BIOL 4285 Lecture Notes - Lecture 2: Positio, Zygote, Repressor
Document Summary
Beckwith weidman syndrome (bws: overgrowth of organs. More susceptible to cancer, willms tumor (kidney) Caused by imprinting defect on chromosome 11p 15. 5. Petit (p) short arm of chromosome 11. They are hypoglycemic, causes hyper insulin activity. Causes the uptake of sugar into skeletal muscles: exper 1, ma(cid:455)(cid:271)e that"s o(cid:374)e of the reaso(cid:374)s the(cid:455) ha(cid:448)e large orga(cid:374)s. Igf-2: soluble hormone that circulates around the body and expressed in the early development stages. In this tumor, we have a high expression of igf-2 (insulin like growth factor 2) Igf-2 was localized to the same region of wilms tumor 11p 15. 5. Chromosome 11 looking at the genomic region close to igf-2 and h19 (linked) Theres a region that becomes methylated at 236 bp region. That can repress the expression of the genes in this region: the gene was igf2. The(cid:455)"(cid:448)e looked at the pater(cid:374)al dna (cid:894)p(cid:895) o(cid:374) the figure. M is maternal and e is the embryo.
