Dark matter RNA illuminates the puzzle of genome-wide association studies

Georges St. Laurent, Yuri Vyatkin, Philipp Kapranov
2014 BMC Medicine  
In the past decade, numerous studies have made connections between sequence variants in human genomes and predisposition to complex diseases. However, most of these variants lie outside of the charted regions of the human genome whose function we understand; that is, the sequences that encode proteins. Consequently, the general concept of a mechanism that translates these variants into predisposition to diseases has been lacking, potentially calling into question the validity of these studies.
more » ... ere we make a connection between the growing class of apparently functional RNAs that do not encode proteins and whose function we do not yet understand (the so-called 'dark matter' RNAs) and the disease-associated variants. We review advances made in a different genomic mapping effortunbiased profiling of all RNA transcribed from the human genomeand provide arguments that the disease-associated variants exert their effects via perturbation of regulatory properties of non-coding RNAs existing in mammalian cells.
doi:10.1186/1741-7015-12-97 pmid:24924000 pmcid:PMC4054906 fatcat:e7j7r6y3ojgo5foqgrds6wdy6m