全基因组搜索人类胎盘中的新印记基因，发现 DSCAM 是 21 号染色体上的第一个印记基因。
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21.
机构信息
INSERM, U1016, Institut Cochin, Paris, France.
CNRS UMR8104, Paris, France.
出版信息
Eur J Hum Genet. 2019 Jan;27(1):49-60. doi: 10.1038/s41431-018-0267-3. Epub 2018 Sep 11.
Abstract
We identified, through a genome-wide search for new imprinted genes in the human placenta, DSCAM (Down Syndrome Cellular Adhesion Molecule) as a paternally expressed imprinted gene. Our work revealed the presence of a Differentially Methylated Region (DMR), located within intron 1 that might regulate the imprinting in the region. This DMR showed a maternal allele methylation, compatible with its paternal expression. We showed that DSCAM is present in endothelial cells and the syncytiotrophoblast layer of the human placenta. In mouse, Dscam expression is biallelic in foetal brain and placenta excluding any possible imprinting in these tissues. This gene encodes a cellular adhesion molecule mainly known for its role in neurone development but its function in the placenta remains unclear. We report here the first imprinted gene located on human chromosome 21 with potential clinical implications.
摘要
我们通过对人类胎盘的全基因组搜索，发现了新的印记基因 DSCAM（唐氏综合征细胞黏附分子），它是一个父源表达的印记基因。我们的工作揭示了一个差异甲基化区域（DMR）的存在，该区域位于内含子 1 内，可能调节该区域的印记。这个 DMR 显示出母等位基因的甲基化，与它的父源表达一致。我们表明 DSCAM 存在于人类胎盘的内皮细胞和合体滋养层中。在小鼠中，Dscam 基因在胎儿大脑和胎盘中有双等位基因表达，排除了这些组织中任何可能的印记。该基因编码一种细胞黏附分子，主要因其在神经元发育中的作用而闻名，但它在胎盘中的功能尚不清楚。我们在这里报告了第一个位于人类 21 号染色体上的印记基因，具有潜在的临床意义。
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