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Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models.


ABSTRACT:

Background

Trisomy 21 causes Down syndrome (DS), but the mechanisms by which the extra chromosome leads to deficient intellectual and immune function are not well understood.

Results

Here, we profile CpG methylation in DS and control cerebral and cerebellar cortex of adults and cerebrum of fetuses. We purify neuronal and non-neuronal nuclei and T lymphocytes and find biologically relevant genes with DS-specific methylation (DS-DM) in each of these cell types. Some genes show brain-specific DS-DM, while others show stronger DS-DM in T cells. Both 5-methyl-cytosine and 5-hydroxy-methyl-cytosine contribute to the DS-DM. Thirty percent of genes with DS-DM in adult brain cells also show DS-DM in fetal brains, indicating early onset of these epigenetic changes, and we find early m

SUBMITTER: Mendioroz M 

PROVIDER: S-EPMC4659173 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature