Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1003515
Title: Global DNA Hypermethylation in Down Syndrome Placenta
Authors: Jin S.
Lee Y.K.
Lim Y.C.
Zheng Z.
Lin X.M.
Ng D.P.Y.
Holbrook J.D.
Law H.Y. 
Kwek K.Y.C. 
Yeo G.S.H. 
Ding C.
Keywords: adult
article
chorion villus
chromosome 21
clinical article
controlled study
DNA methylation
down regulation
Down syndrome
epigenetics
female
fetus
gene
gene location
human
human cell
human tissue
male
multigene family
NRSF gene
phenotype
placenta
promoter region
REST gene
tet gene
transcription regulation
upregulation
Chromosomes, Human, Pair 21
CpG Islands
DNA Methylation
DNA-Binding Proteins
Down Syndrome
Epigenesis, Genetic
Female
Gene Expression Regulation
Humans
Male
Placenta
Pregnancy
Promoter Regions, Genetic
Proto-Oncogene Proteins
Repressor Proteins
Sequence Analysis, DNA
Issue Date: 2013
Citation: Jin S., Lee Y.K., Lim Y.C., Zheng Z., Lin X.M., Ng D.P.Y., Holbrook J.D., Law H.Y., Kwek K.Y.C., Yeo G.S.H., Ding C. (2013). Global DNA Hypermethylation in Down Syndrome Placenta. PLoS Genetics 9 (6) : e1003515. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1003515
Abstract: Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed DNA hypermethylation in all autosomes in DS samples. We hypothesize that such global hypermethylation may be mediated by down-regulation of TET family genes involved in DNA demethylation, and down-regulation of REST/NRSF involved in transcriptional and epigenetic regulation. Genes located on chr21 were up-regulated by an average of 53% in DS compared to normal villi, while genes with promoter hypermethylation were modestly down-regulated. DNA methylation perturbation was conserved in DS placenta villi and in adult DS peripheral blood leukocytes, and enriched for genes known to be causally associated with DS phenotypes. Our data suggest that global epigenetic changes may occur early in development and contribute to DS phenotypes. © 2013 Jin et al.
Source Title: PLoS Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/161621
ISSN: 15537390
DOI: 10.1371/journal.pgen.1003515
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