The dark genome and human disease

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The best well-studied genome sequences are genes that encode proteins, but only represent 1.5% of the genome. Therefore, much of the genome, called dark genome, comprises transcribed sequences that may have a critical biological importance.

The importance of this functional part of the genome that encodes proteins is particularly evident in a group of non-coding RNAs, microRNAs. In human cancer, studies by our group and others have shown that epigenetic and genetic defects in microRNA processing and in their machinery are a common feature of the disease. But beyond the microRNAs there are other non-coding RNAs that may be altered in cancer cells?

The director of the Cancer Epigenetics and Biology Program (PEBC) at IDIBELL, Manel Esteller, has published an article at the journal Nature Reviews Genetics in addressing this issue, highlighting the emerging role of new technologies of genomics and epigenomics to study classes of non-coding RNAs, microRNAs different: Transcribed-ultraconserved Regions (T-RCUs), small nucleolar RNPs (snoRNPs), PIWI-associated RNAs (piRNAs) and the heterogeneous group of non-coding RNAs long (lncRNAs).

The research results will enable us to obtain in the future the first non-coding transcript genome map in human cancer, an “epigenetic signature” that could have consequences not only valuable for the understanding of disease but also for the development of new markers molecular and targeted therapies.

 

Article’s reference

Esteller M. Non-coding RNAS in human disease. Nature Review Genetics 12, 861-874 (December 2011) | doi: 10.1038/nrg3074

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