期刊
NATURE GENETICS
卷 40, 期 2, 页码 237-242出版社
NATURE PORTFOLIO
DOI: 10.1038/ng.2007.56
关键词
-
资金
- MRC [G0400156] Funding Source: UKRI
- Medical Research Council [G0400156] Funding Source: Medline
- Medical Research Council [G0400156] Funding Source: researchfish
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据