4.4 Article

Demethylation of CpG islands in the 5′ upstream regions mediates the expression of the human testis-specific gene MAGEB16 and its mouse homolog Mageb16

Journal

BMB REPORTS
Volume 47, Issue 2, Pages 86-91

Publisher

KOREAN SOCIETY BIOCHEMISTRY & MOLECULAR BIOLOGY
DOI: 10.5483/BMBRep.2014.47.2.066

Keywords

CpG island; DNA demethylation; MAGEB16; Mageb16; Testis-specific expression

Funding

  1. National Basic Program of China (Program 973) from the Ministry of Science and Technology of China [2012CB947600]
  2. Fundamental Research Funds for the Central Universities [2010SCU11025]

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Tissue-specific gene expression is regulated by epigenetic modification involving trans-acting factors. Here, we identified that the human MAGEB16 gene and its mouse homolog, Mageb16, are only expressed in the testis. To investigate the mechanism governing their expression, the promoter methylation status of these genes was examined in different samples. Two CpG islands (CGIs) in the 5' upstream region of MAGEB16 were highly demethylated in human testes, whereas they were methylated in cells without MAGEB16 expression. Similarly, the CGI in Mageb16 was hypomethylated in mouse testes but hypermethylated in other tissues and cells without Mageb16 expression. Additionally, the expression of these genes could be activated by treatment with the demethylation agent 5'-aza-2'-deoxycytidine (5'-aza-CdR). Luciferase assays revealed that both gene promoter activities were inhibited by methylation of the CGI regions. Therefore, we propose that the testis-specific expression of MAGEB16 and Mageb16 is regulated by the methylation status of their promoter regions.

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