Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.

ABSTRACT: Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain to be elucidated. We therefore performed molecular studies using fresh placental samples from two patients with upd(14)pat. We observed that RTL1 expression level was about five times higher in the placental samples of the two patients than in control placental samples, whereas DIO3 expression level was similar between the placental samples of the two patients and the control plac

SUBMITTER: Kagami M 

PROVIDER: S-EPMC3469456 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature