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LncRNAs Associated With Inherited Conditions

LncRNAs (pronounced “link”) are long non-coding RNAs that are emerging as important regulators of gene expression in 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 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 , an inherited malformation of the fingers and toes.

, 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 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, 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


ACCOMPANYING ARTICLE TITLE: HELLP-babies link a novel lincRNA to the trophoblast cell cycle


ACCOMPANYING COMMENTARY TITLE: Genetic “lnc”-age of Non-Coding RNAs to Human Disease



Journal of Clinical Investigation