Alu elements and human common diseases like obesity
نویسندگان
چکیده
In the past few years the epigenetic impact on human diseases has been studied extensively. However, a controversial debate remains about the influence of environmental factors on the genetic determination of DNA methylation patterns. Although DNA methylation defects have been described in imprinting diseases and linked to cancer development, its impact on common diseases like obesity has yet to be elucidated. In our study we observed a hypermethylation variant of the POMC gene in obese children, which plays a key role in body weight regulation. Phylogenetic analyses reveal a close relationship between the POMC DNA methylation at this site and the presence of primate specific Alu elements. In this commentary we will extensively discuss our observations, including comments on the current debate about the impact of transposable elements on DNA methylation and on the development of human disease in general.
منابع مشابه
An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity
The individual risk for common diseases not only depends on genetic but also on epigenetic polymorphisms. To assess the role of epigenetic variations in the individual risk for obesity, we have determined the methylation status of two CpG islands at the POMC locus in obese and normal-weight children. We found a hypermethylation variant targeting individual CpGs at the intron 2-exon 3 boundary o...
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