他名称ATAC-STARR-seq lymphoblastoid active region 8074; ATAC-STARR-seq lymphoblastoid active region 8075
遺伝子の種類biological-region
要約
This region contains a bi-directional promoter for the adjacent OSGEP (O-sialoglycoprotein endopeptidase) and APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1) genes. The APEX1 promoter is stimulated by oxidative stress, for instance treatment with hydrogen peroxide, and binding by microphthalmia-associated transcription factor, and is downregulated by tumor protein p53. Multiple calcium binding sites derived from Alu retrotransposon bind Apex1 protein and heterogeneous nuclear ribonucleoprotein L and contribute to negative regulation of transcription. A single nucleotide polymorphism in this region (rs1760944) affects the activity of this promoter and was found to be associated with cancer risk in multiple study populations. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
