IMPE Abstracts

[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...

Introduction: We have previously reported strong association of cryptorchidism (CO) and hypospadias (HS) with a specific "AGATC" haplotype within a > 34 kb tight linkage disequilibrium (LD) block spanning five SNPs designated SNPs10–14 in the 3' region of ESR1 (JCEM 2006; Hum Reprod 208). Here, we report that a microdeletion (DESR1) identified from the specific haplotype constitutes a widely spread susceptibility factor for the...