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.