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
TITLE:
HELLP-babies link a novel lincRNA to the trophoblast cell cycle
AUTHOR CONTACT:
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
TITLE:
Genetic "lnc"-age of Non-Coding RNAs to Human Disease
AUTHOR CONTACT:
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
Journal of Clinical Investigation