Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8645583 | Gene | 2018 | 8 Pages |
Abstract
The aim of this work is to describe the functional role of a novel ENG intronic variant found in a patient affected by both HHT and PAH, in order to assess whether it has a pathogenic role. We proved that the variant lies in a novel binding-site for the transcription factor Sp1, known to be involved in the regulation of ENG and ACVRL1 transcription. We confirmed a pathogenic role for this intronic variant, as it significantly reduces ENG transcription by affecting this novel Sp1 binding-site.
Keywords
DMEMdbSNPBMPR2HPAHEndoglinACVRL1HHTIPAHCAVMENGHEK293TFCSEMSACTRLDulbecco's modified Eagle MediumExACβ-actinElectrophoretic mobility shift assayHereditary hemorrhagic telangiectasiafetal calf serumActbheritable pulmonary arterial hypertensionBMPAVMcerebral arteriovenous malformationarteriovenous malformationAntibodySingle Nucleotide Polymorphism DatabaseIdiopathic pulmonary arterial hypertensionBone morphogenetic proteinjuvenile polyposisControlExome Aggregation ConsortiumBone morphogenetic protein receptor type 2
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Sara Plumitallo, Lidia Ruiz-Llorente, Carmen Langa, Jacopo Morini, Gabriele Babini, Donata Cappelletti, Laura Scelsi, Alessandra Greco, Cesare Danesino, Carmelo Bernabeu, Carla Olivieri,