| http://purl.uniprot.org/citations/34799406 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34799406 | http://www.w3.org/2000/01/rdf-schema#comment | "Signal regulatory protein SIRPγ (CD172G) is expressed on the surface of lymphocytes, where it acts by engaging its ligand, CD47. SIRPG, which encodes SIRPγ, contains a nonsynonymous coding variant, rs6043409, which is significantly associated with risk for type 1 diabetes. SIRPG produces multiple transcript isoforms via alternative splicing, all encoding potentially functional proteins. We show that rs6043409 alters a predicted exonic splicing enhancer, resulting in significant shifts in the distribution of SIRPG transcript isoforms. All of these transcript isoforms produced protein upon transient expression in vitro. However, CRISPR/Cas9 targeting of one of the alternatively spliced exons in SIRPG eliminated all SIRPγ expression in Jurkat T cells. These targeted cells formed fewer cell-cell conjugates with each other than with wild-type Jurkat cells, expressed reduced levels of genes associated with CD47 signaling, and had significantly increased levels of cell-surface CD47. In primary CD4+ and CD8+ T cells, cell-surface SIRPγ levels in response to anti-CD3 stimulation varied quantitatively by rs6043409 genotype. Our results suggest that SIRPG is the most likely causative gene for type 1 diabetes risk in the 20p13 region and highlight the role of alternative splicing in lymphocytes in mediating the genetic risk for autoimmunity."xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.org/dc/terms/identifier | "doi:10.2337/db21-0194"xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/author | "Smith M.J."xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/author | "Concannon P."xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/author | "Newman J.R.B."xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/author | "Pastor L."xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/name | "Diabetes"xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/pages | "350-358"xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/title | "Genetic Control of Splicing at SIRPG Modulates Risk of Type 1 Diabetes."xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://purl.uniprot.org/core/volume | "71"xsd:string |
| http://purl.uniprot.org/citations/34799406 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34799406 |
| http://purl.uniprot.org/citations/34799406 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/34799406 |
| http://purl.uniprot.org/uniprot/#_A8K9N0-mappedCitation-34799406 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34799406 |
| http://purl.uniprot.org/uniprot/#_Q9P1W8-mappedCitation-34799406 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34799406 |
| http://purl.uniprot.org/uniprot/Q9P1W8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/34799406 |
| http://purl.uniprot.org/uniprot/A8K9N0 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/34799406 |