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Genetic “lnc”-age of noncoding RNAs to human disease
Andrew Troy, Norman E. Sharpless
Andrew Troy, Norman E. Sharpless
Published October 24, 2012
Citation Information: J Clin Invest. 2012;122(11):3837-3840. https://doi.org/10.1172/JCI66645.
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Commentary

Genetic “lnc”-age of noncoding RNAs to human disease

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Abstract

The list of functions of long noncoding RNAs (lncRNAs) in human tissues is rapidly growing. To further underscore their critical role in human health, two reports in this issue of JCI associate altered expression of novel lncRNAs with the heritable syndromes HELLP and brachydactyly type E.

Authors

Andrew Troy, Norman E. Sharpless

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Figure 1

Dysregulation of two novel lncRNAs in heritable conditions.

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Dysregulation of two novel lncRNAs in heritable conditions.
(A) Placenta...
(A) Placental trophoblasts normally invade the uterine wall as the placenta remodels the maternal vasculature. van Dijk et al. propose that a lncRNA transcribed from the HELLP locus regulates the transition from proliferation to invasion of trophoblasts (3). (B) Mutations predisposing to HELLP that are present in fetal tissue appear to promote increased expression of the HELLP lncRNA (pink) in placental trophoblasts, promoting trophoblast proliferation at the expense of differentiation and invasion. (C) The CISTR-ACT locus (purple) and DA125942, a lncRNA transcribed from the CISTR-ACT locus, interact in cis with PTHLH and in trans with SOX9. Maass et al. conclude that DA125942 organizes chromatin to coordinate transcription of multiple loci involved in cartilage differentiation (4). (D) A chromosomal translocation found in BDE patients disrupts the ability of DA125942 to bind the PTHLH locus in cis, potentially causing premature chondrocyte differentiation at the expense of proliferation and bone elongation.
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