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Unexpected findings of variability in microRNAs suggest roles in human genetics

Stefano Volinia

Author Affiliations

Data Mining for Analysis of Microarrays, Department of Morphology and Embryology, Università degli Studi di Ferrara, 44100 Ferrara, Italy

Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA

Biomedical Informatics, Ohio State University, Columbus, OH 43210, USA

Genome Medicine 2012, 4:69  doi:10.1186/gm370

Published: 31 August 2012


Short RNA molecules were considered to be junk for decades, but in recent years they have been shown to have important functional roles. MicroRNAs (miRNAs) in particular have attracted much attention. They have been assumed to be highly conserved in humans and other species; however, a recent study published in Genome Medicine reveals an unexpected level of variability in human miRNAs, including variations within the seed region. This challenges the current view of miRNAs, and may explain previous reports of pathogenic mutations in miRNAs.

See research article webcite

MicroRNA; non-coding RNA; pathogenic mutations; variation