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Citations to this article

A misplaced lncRNA causes brachydactyly in humans
Philipp G. Maass, … , Friedrich C. Luft, Sylvia Bähring
Philipp G. Maass, … , Friedrich C. Luft, Sylvia Bähring
Published October 24, 2012
Citation Information: J Clin Invest. 2012;122(11):3990-4002. https://doi.org/10.1172/JCI65508.
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Research Article Article has an altmetric score of 18

A misplaced lncRNA causes brachydactyly in humans

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Abstract

Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental disorders. We identified 2 families with brachydactyly type E (BDE) resulting from different translocations affecting chromosome 12p. Both translocations caused downregulation of the parathyroid hormone-like hormone (PTHLH) gene by disrupting the cis-regulatory landscape. Using chromosome conformation capturing, we identified a regulator on chromosome 12q that interacts in cis with PTHLH over a 24.4-megabase distance and in trans with the sex-determining region Y-box 9 (SOX9) gene on chromosome 17q. The element also harbored a long noncoding RNA (lncRNA). Silencing of the lncRNA, PTHLH, or SOX9 revealed a feedback mechanism involving an expression-dependent network in humans. In the BDE patients, the human lncRNA was upregulated by the disrupted chromosomal association. Moreover, the lncRNA occupancy at the PTHLH locus was reduced. Our results document what we believe to be a novel in cis– and in trans–acting DNA and lncRNA regulatory feedback element that is reciprocally regulated by coding genes. Furthermore, our findings provide a systematic and combinatorial view of how enhancers encoding lncRNAs may affect gene expression in normal development.

Authors

Philipp G. Maass, Andreas Rump, Herbert Schulz, Sigmar Stricker, Lisanne Schulze, Konrad Platzer, Atakan Aydin, Sigrid Tinschert, Mary B. Goldring, Friedrich C. Luft, Sylvia Bähring

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Total citations by year

Year: 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2009 Total
Citations: 6 2 1 6 5 9 4 4 10 1 9 8 1 1 67
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2016 (10)

Title and authors Publication Year
Investigating long non-coding RNAs using animal models
Michael Feyder, Loyal Goff
Journal of Clinical Investigation 2016
SOX9 and the many facets of its regulation in the chondrocyte lineage
V Lefebvre, M Dvir-Ginzberg
Connective Tissue Research 2016
Roles for long non-coding RNAs in physiology and disease
MT Melissari, P Grote
Pflügers Archiv - European Journal of Physiology 2016
The long non-coding RNA Morrbid regulates Bim and short-lived myeloid cell lifespan
JJ Kotzin, SP Spencer, SJ McCright, DB Kumar, MA Collet, WK Mowel, EN Elliott, A Uyar, MA Makiya, MC Dunagin, CC Harman, AT Virtue, S Zhu, W Bailis, J Stein, C Hughes, A Raj, EJ Wherry, LA Goff, AD Klion, JL Rinn, A Williams, RA Flavell, J Henao-Mejia
Nature 2016
Emerging roles for long noncoding RNAs in skeletal biology and disease
NP Huynh, BA Anderson, F Guilak, A McAlinden
Connective Tissue Research 2016
Long non-coding RNAs: spatial amplifiers that control nuclear structure and gene expression
JM Engreitz, N Ollikainen, M Guttman
Nature Reviews Molecular Cell Biology 2016
Review: Long Noncoding RNAs in the Regulation of Inflammatory Pathways in Rheumatoid Arthritis and Osteoarthritis: LncRNAs IN THE REGULATION OF INFLAMMATORY PATHWAYS IN RA AND OA
MJ Pearson, SW Jones
Arthritis & Rheumatology 2016
HER3 and LINC00052 interplay promotes tumor growth in breast cancer
A Salameh, X Fan, BK Choi, S Zhang, N Zhang, Z An
Oncotarget 2016
Long non-coding RNAs in the regulation of myeloid cells
X Tian, J Tian, X Tang, J Ma, S Wang
Journal of Hematology & Oncology 2016
LncRNA HULC enhances epithelial-mesenchymal transition to promote tumorigenesis and metastasis of hepatocellular carcinoma via the miR-200a-3p/ZEB1 signaling pathway
SP Li, HX Xu, Y Yu, JD He, Z Wang, YJ Xu, CY Wang, HM Zhang, RX Zhang, JJ Zhang, Z Yao, ZY Shen
Oncotarget 2016

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