Journal
NATURE GENETICS
Volume 40, Issue 2, Pages 237-242Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.2007.56
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Funding
- MRC [G0400156] Funding Source: UKRI
- Medical Research Council [G0400156] Funding Source: Medline
- Medical Research Council [G0400156] Funding Source: researchfish
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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 MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic differentially methylated region (IG-DMR) and the MEG3-DMR3-5. Consistent with this, paternal and maternal uniparental disomy for chromosome 14 (upd(14) pat and upd(14) mat) cause distinct phenotypes(6,7). We studied eight individuals (cases 1-8) with a upd(14) pat-like phenotype and three individuals (cases 9-11) with a upd(14) mat-like phenotype in the absence of upd(14) and identified various deletions and epimutations affecting the imprinted region. The results, together with recent mouse data(4,8-10), imply that the IG-DMR has an important cis-acting regulatory function on the maternally inherited chromosome and that excessive RTL1 expression and decreased DLK1 and RTL1 expression are relevant to upd(14) pat-like and upd(14) mat-like phenotypes, respectively.
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