Vectors for Human LOC107303343

This genomic region represents regulatory elements located in two 5\' introns of the adenosine deaminase (ADA) gene. These elements control tissue-specific and developmental expression of the ADA gene, and are characterized by arrays of DNase I hypersensitive sites. They include an enhancer and locus control region (LCR) that regulates ADA expression in the thymus, and an independent enhancer that regulates ADA expression in the duodenum. Various transcription factors can bind to these elements and are necessary for their function. Eight subregions were validated as active enhancers by ChIP-STARR-seq in human embryonic stem cells, where all are marked by the H3K4me1 histone modification, five are additionally marked by H3K27ac, and one is additionally associated with the NANOG transcription factor. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in phorbol 12-myristate 13-acetate-treated (for megakaryocytic differentiation) K562 erythroleukemia cells. This locus also includes seven accessible chromatin subregions, five of which were validated as enhancers and two as silencers, based on their ability to activate or repress 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, Jun 2023]