Zaburzenia regulacji epigenetycznej procesów wzrastania na przykładzie zespołu Silvera i Russella

Errors of epigenetic modifications can lead to various disorders or tumour transformation. We present epigenetic regulation of gene expression and its participation in the process of human growth. We discuss the methylation defect on chromosome 11p15 which is one of direct genetic disturbances causing Silver-Russell syndrome (SRS). SRS is considered to be a model of congenital growth disturbances, as well as the first known disease associated with impaired epigenetic regulation of the gene expression located on two different chromosomes, 7. and 11.