| Literature DB >> 30206355 |
Laïla Allach El Khattabi1,2,3,4, Stéphanie Backer1,2,3, Amélie Pinard1,2,3,5, Marie-Noëlle Dieudonné6, Vassilis Tsatsaris7, Daniel Vaiman1,2,3, Luisa Dandolo1,2,3, Evelyne Bloch-Gallego1,2,3, Hélène Jammes8, Sandrine Barbaux9,10,11.
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.Entities:
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Year: 2018 PMID： 30206355 PMCID： PMC6303248 DOI： 10.1038/s41431-018-0267-3
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246