@article{Szafranski01012013,
author = {Szafranski, Przemyslaw and Dharmadhikari, Avinash V. and Brosens, Erwin and Gurha, Priyatansh and Kołodziejska, Katarzyna E. and Zhishuo, Ou and Dittwald, Piotr and Majewski, Tadeusz and Mohan, K. Naga and Chen, Bo and Person, Richard E. and Tibboel, Dick and de Klein, Annelies and Pinner, Jason and Chopra, Maya and Malcolm, Girvan and Peters, Gregory and Arbuckle, Susan and Guiang, Sixto F. and Hustead, Virginia A. and Jessurun, Jose and Hirsch, Russel and Witte, David P. and Maystadt, Isabelle and Sebire, Neil and Fisher, Richard and Langston, Claire and Sen, Partha and Stankiewicz, Paweł}, 
title = {Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder},
volume = {23}, 
number = {1}, 
pages = {23-33}, 
year = {2013}, 
doi = {10.1101/gr.141887.112}, 
abstract ={An unanticipated and tremendous amount of the noncoding sequence of the human genome is transcribed. Long noncoding RNAs (lncRNAs) constitute a significant fraction of non-protein-coding transcripts; however, their functions remain enigmatic. We demonstrate that deletions of a small noncoding differentially methylated region at 16q24.1, including lncRNA genes, cause a lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), with parent-of-origin effects. We identify overlapping deletions 250 kb upstream of FOXF1 in nine patients with ACD/MPV that arose de novo specifically on the maternally inherited chromosome and delete lung-specific lncRNA genes. These deletions define a distant cis-regulatory region that harbors, besides lncRNA genes, also a differentially methylated CpG island, binds GLI2 depending on the methylation status of this CpG island, and physically interacts with and up-regulates the FOXF1 promoter. We suggest that lung-transcribed 16q24.1 lncRNAs may contribute to long-range regulation of FOXF1 by GLI2 and other transcription factors. Perturbation of lncRNA-mediated chromatin interactions may, in general, be responsible for position effect phenomena and potentially cause many disorders of human development.}, 
URL = {http://genome.cshlp.org/content/23/1/23.abstract}, 
eprint = {http://genome.cshlp.org/content/23/1/23.full.pdf+html}, 
journal = {Genome Research} 
}