In biological processes and diseases, LncRNAs (pronounced "link") are long non-coding RNAs that are emerging as important regulators of gene expression.
In this issue of the Journal of Clinical Investigation, two papers connect lncRNAs to inherited conditions in humans. Sylvia Bähring and colleagues at the Experimental and Clinical Research Center in Berlin found a chromosomal translocation that disrupts the expression of a lncRNA. This disruption alters the expression of the genes PTHLH and SOX9 and results in brachydactyly, an inherited malformation of the fingers and toes.
HELLP syndrome, a group of symptoms occurring in pregnant women that lead to pre-term delivery, was also found to be caused by a lncRNA. Researchers led by Cees Oudejans at the VU University Medical Center in Amsterdam identified a lncRNA on chromosome 12 that activated a set of genes which control the development of the placenta. In a companion commentary, Norman Sharpless of the University of North Carolina at Chapel Hill provides an overview of lncRNA biology and discusses the role of lncRNAs in heritable human diseases.