Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

查看全文 作　　者：Przemyslaw [1]Szafranski;Tadeusz [1]Majewski;Esra Yıldız [1]Bolukbası;Tomasz [1,2]Gambin;Justyna [3]A.Karolak;Nahir Cortes-[4,5]Santiago;Markus [6]Bruckner;Gabriele [7]Amann;Denisa [8]Weis;Paweł [1]Stankiewicz 机构地区：[1]Department of Molecular&Human Genetics,Baylor College of Medicine,Houston,TX 77030,USA;[2]Institute of Computer Science,Warsaw University of Technology,Warsaw 00-665,Poland;[3]Chair and Department of Genetics and Pharmaceutical Microbiology,Poznan University of Medical Sciences,Poznan 60-806,Poland;[4]Department of Pathology,Texas Children’s Hospital,Houston,TX 77030,USA;[5]Department of Pathology&Immunology,Baylor College of Medicine,Houston,TX 77030,USA;[6]Department of Anaesthesia,Kepler University Medical Campus III,Linz 4020,Austria;[7]Department of Pathology,Medical University of Vienna,Vienna 1090,Austria;[8]Department of Medical Genetics,Kepler University Hospital Med Campus IV,Johannes Kepler University Linz,Linz 4020,Austria 出　　处：《Genes & Diseases》索引2022年第9卷第6期,共4页 基　　金：This work was supported by the grants awarded by the US National Institutes of Health(NIH),National Heart Lung and Blood Institute(NHLBI)R01HL137203;Eunice Kennedy Shriver National Institute of Child Health&Human Development(NICHD)grant R01HD087292 to P.St. 摘　　要：Heterozygous single nucleotide variants(SNVs)or copynumber variant(CNV)deletions,involving the mesenchymal forkhead box family transcription factor gene,FOXF1,or its distant lung-specific enhancer,are responsible for 80%e90%of cases of alveolar capillary dysplasia with misalignment of pulmonary veins(ACDMPV).1 ACDMPV is a lethal lung developmental disorder with severe progressive respiratory failure and persistent pulmonary arterial hypertension(Supplemental Material).Intriguingly,in contrast to point mutations in FOXF1,the ACDMPV-causative CNV deletions arise de novo almost exclusively on the maternal chromosome 16q24.1. 关 键 词：lung RESPIRATORY CAPILLARY