Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

FOXF1 promoter-putative enhancer chromatin looping


ABSTRACT: To determine if there is a physical interaction between the FOXF1 promoter and putative enhancer sequences ~250kb upstream of the promoter chromosome conformation capture-on-chip (4C) analysis was performed. An unanticipated and tremendous amount of the non-coding sequences of the human genome are transcribed. Long non-coding RNAs (lncRNAs) are non-protein coding transcripts longer than 200 nucleotides and their functions remain enigmatic. We demonstrate that deletions of 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 non-coding overlapping deletions 250 kb upstream to FOXF1 in nine patients with ACD/MPV that arose de novo specifically on the maternally inherite

ORGANISM(S): Homo sapiens

SUBMITTER: Pawel Stankiewicz 

PROVIDER: E-GEOD-39256 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress