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Article

PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome

  • Authors:
    • Zhaoning Lu
    • Yanna Liu
    • Zhaorui Ren
    • Jingbin Yan
  • View Affiliations / Copyright

    Affiliations: Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, P.R. China
  • Pages: 1227-1234
    |
    Published online on: June 8, 2016
       https://doi.org/10.3892/mmr.2016.5375
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Abstract

Down syndrome (DS) is the most common form of intellectual disability associated with central nervous system abnormalities and results from an extra complete or partial copy of human chromosome 21. However, whether DNA hydroxymethylation is perturbed in a specific gene associated with DS phenotypes, or the alteration of DNA hydroxymethy­lation results in changes of gene expression in DS remains unidentified. The current study mapped 5‑methylcytosine and 5‑hydroxymethylcytosine at CpG islands of the PR domain containing 8 (PRDM8) in the peripheral blood of 16 DS and 19 normal samples by oxidative bisulfite-pyrosequencing. Furthermore, the association of the expression levels of the two transcripts and epigenetic modification in different genomic contexts of PRDM8 was analyzed. The results demonstrated hypermethylation and hyperhydroxymethylation at the internal promoter of PRDM8 in DS, and significantly increased the expression of PRDM8 transcript variant 2 in the DS patients (median 3.9 vs. 2.04; P=0.016), accompanied by a positive correlation between the expression of two PRDM8 transcripts and hydroxymethylation at the corresponding external and internal promoters in patients, although not in the controls. A similar association was observed between the expression of transcript variant 1 and intragenic methylation of PRDM8. Taken together, the results of the present study suggest a critical role for DNA hydroxymethylation and methylation in regulating abnormal PRDM8 overexpression in DS.
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Copy and paste a formatted citation
Spandidos Publications style
Lu Z, Liu Y, Ren Z and Yan J: PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome. Mol Med Rep 14: 1227-1234, 2016.
APA
Lu, Z., Liu, Y., Ren, Z., & Yan, J. (2016). PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome. Molecular Medicine Reports, 14, 1227-1234. https://doi.org/10.3892/mmr.2016.5375
MLA
Lu, Z., Liu, Y., Ren, Z., Yan, J."PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome". Molecular Medicine Reports 14.2 (2016): 1227-1234.
Chicago
Lu, Z., Liu, Y., Ren, Z., Yan, J."PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome". Molecular Medicine Reports 14, no. 2 (2016): 1227-1234. https://doi.org/10.3892/mmr.2016.5375
Copy and paste a formatted citation
x
Spandidos Publications style
Lu Z, Liu Y, Ren Z and Yan J: PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome. Mol Med Rep 14: 1227-1234, 2016.
APA
Lu, Z., Liu, Y., Ren, Z., & Yan, J. (2016). PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome. Molecular Medicine Reports, 14, 1227-1234. https://doi.org/10.3892/mmr.2016.5375
MLA
Lu, Z., Liu, Y., Ren, Z., Yan, J."PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome". Molecular Medicine Reports 14.2 (2016): 1227-1234.
Chicago
Lu, Z., Liu, Y., Ren, Z., Yan, J."PRDM8 internal promoter hyperhydroxymethylation correlates with increased expression of the corresponding transcript in Down syndrome". Molecular Medicine Reports 14, no. 2 (2016): 1227-1234. https://doi.org/10.3892/mmr.2016.5375
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