ArticleGenome research2013
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.
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Who cites it
85 citing papers in PubMed, 159 citations in OpenAlex.
- Capture and Purification of Endogenous Long Noncoding Ribonucleic Protein Complexes for Protein Identification Using Grad-MS.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia.Nature communications · 2024Article
- Transcription regulation by long non-coding RNAs: mechanisms and disease relevance.Nature reviews. Molecular cell biology · 2024Review
- Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia.Clinical epigenetics · 2023Article
- A Small De Novo CNV Deletion of the Paternal Copy ofNon-coding RNA · 2023Article
- Fendrr synergizes with Wnt signalling to regulate fibrosis related genes during lung development via its RNA:dsDNA triplex element.Nucleic acids research · 2023Article
- Differentially Expressed Circulating Long-Noncoding RNAS in Premature Infants with Respiratory Distress Syndrome.Balkan journal of medical genetics : BJMG · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- Ultra-conserved non-coding sequences within theGenes & diseases · 2022Article
- Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.European journal of human genetics : EJHG · 2022Article
- Expression profiles of long non-coding RNAs in neurogenic bladder of spinal cord injured rats: a transcriptomic analysis.Translational andrology and urology · 2022Article
- Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?European journal of medical genetics · 2022Article
- From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo.Nature reviews. Genetics · 2022Review
- Nanostructures in non-invasive prenatal genetic screening.Biomedical engineering letters · 2022Review
- Expression of long noncoding RNA uc.375 in bronchopulmonary dysplasia and its function in the proliferation and apoptosis of mouse alveolar epithelial cell line MLE 12.Frontiers in physiology · 2022Article
- Mice lacking DYRK2 exhibit congenital malformations with lung hypoplasia and altered Foxf1 expression gradient.Communications biology · 2021Article
- Genome wide DNA methylation analysis of alveolar capillary dysplasia lung tissue reveals aberrant methylation of genes involved in development including the FOXF1 locus.Clinical epigenetics · 2021Article
- Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.Respiratory research · 2021Article
- Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.Human mutation · 2021Article
- Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing.Pediatric research · 2021Article
25 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 12 institutions in 7 countries.
Funding
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.
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