impe0096pl11 | Genomic imprinting and its clinical relevance | IMPE2023
Ogata Tsutomu
, Kagami Masayo
, DiMarco Aimee
, Palazzo Fausto
, Wernig Florian
[Introduction] Genomic imprinting refers to the process by which a single allele is expressed in a parent-of-origin dependent manner. This parent-of-origin dependent expression is regulated by methylation patterns of differentially methylated region (DMRs). Here, we focus on two imprinting disorders, Kagami-Ogata syndrome (KOS14) and Temple syndrome (TS14). [Chromosome 14q32.2 imprinted region] This region harbors paternally expressed protein-coding genes such as DLK1 and RTL1...