Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14

 Abstract

Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1, and maternally expressed genes (MEGs) such as GTL2 (alias, MEG3), RTL1as (RTL1 antisense), and MEG8. Consistent with this, paternal and maternal uniparental disomies for chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes. In this report, we review the current knowledge about the underlying factors for the development of clinical features in upd(14)pat and upd(14)mat. The data available suggest that the DLK1–GTL2 IG-DMR functions as a regulator for the maternally inherited imprinted region, and that excessive RTL1 expression and decreased DLK1 and RTL1 expression play a major role in the development of upd(14)pat-like and upd(14)mat-like phenotypes, respectively

Full Text Options
Article
Metrics
 Share
 Full Text
 Info
Pages
181 - 187
doi
10.4161/epi.3.4.6550
Type
Point-of-View
 Metrics
 Cite This Article
 Permissions
 Permissions
 Reprints
Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14