LncRNAs (pronounced "link") are long non-coding RNAs that are emerging as important regulators of gene expression in biological processes and diseases. 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.
TITLE:
A misplaced lncRNA causes brachydactyly in humans
AUTHOR CONTACT:
Sylvia Bähring
Experimental and Clinical Research Center (ECRC), Berlin, DEU
Phone: +49 30 9406 2505; Fax: +49 30 9406 2536; E-mail: sylvia.baehring@charite.de
View this article at: http://www.jci.org/articles/view/65508?key=fc9e4db6ede7b299b49b
ACCOMPANYING ARTICLE
HELLP-babies link a novel lincRNA to the trophoblast cell cycle
Cees Oudejans
VU University Medical Center, Amsterdam, UNK, NLD
Phone: +31-20-4443867; Fax: +31-20-4443895; E-mail: cbm.oudejans@vumc.nl
View this article at: http://www.jci.org/articles/view/65171?key=9d8a7bfbd1e5358f5024
ACCOMPANYING COMMENTARY
Genetic "lnc"-age of Non-Coding RNAs to Human Disease
Norman Sharpless
UNC-CH School of Medicine, Chapel Hill, NC, USA
Phone: 919-966-1185; Fax: 919-966-8212; E-mail: nes@med.unc.edu
View this article at: http://www.jci.org/articles/view/66645?key=822ef48aa15f78e41113
Journal of Clinical Investigation