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- W1967910782 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." @default.
- W1967910782 created "2016-06-24" @default.
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- W1967910782 date "2012-10-03" @default.
- W1967910782 modified "2023-10-07" @default.
- W1967910782 title "Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder" @default.
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- W1967910782 cites W1998221731 @default.
- W1967910782 cites W1999746344 @default.
- W1967910782 cites W2002529868 @default.
- W1967910782 cites W2011564568 @default.
- W1967910782 cites W2020766548 @default.
- W1967910782 cites W2026726511 @default.
- W1967910782 cites W2030047242 @default.
- W1967910782 cites W2030388253 @default.
- W1967910782 cites W2031486396 @default.
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- W1967910782 cites W2032558690 @default.
- W1967910782 cites W2034979835 @default.
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- W1967910782 cites W2115815469 @default.
- W1967910782 cites W2117768773 @default.
- W1967910782 cites W2120008572 @default.
- W1967910782 cites W2120665189 @default.
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- W1967910782 doi "https://doi.org/10.1101/gr.141887.112" @default.
- W1967910782 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3530681" @default.
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