A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-01

AUTHORS

Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, Marie-Noëlle Dieudonné, Vassilis Tsatsaris, Daniel Vaiman, Luisa Dandolo, Evelyne Bloch-Gallego, Hélène Jammes, Sandrine Barbaux

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. More... »

PAGES

49-60

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-018-0267-3

DOI

http://dx.doi.org/10.1038/s41431-018-0267-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106910298

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30206355


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