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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 biological processes and diseases.

In this issue of the , two papers connect lncRNAs to inherited conditions in humans.

Sylvia Bähring and colleagues at the Experimental and in Berlin found a 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 Cees Oudejans at the 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


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