Sökning: onr:"swepub:oai:DiVA.org:uu-167163" > Genetic and physica...
Fältnamn | Indikatorer | Metadata |
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000 | 04516naa a2200637 4500 | |
001 | oai:DiVA.org:uu-167163 | |
003 | SwePub | |
008 | 120123s2012 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:123742896 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1671632 URI |
024 | 7 | a https://doi.org/10.1136/annrheumdis-2011-2000852 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1237428962 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Castillejo-Lopez, Casimiro4 aut |
245 | 1 0 | a Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK |
264 | c 2011-10-06 | |
264 | 1 | b BMJ,c 2012 |
338 | a print2 rdacarrier | |
520 | a ObjectivesAltered signalling in B cells is a predominant feature of systemic lupus erythematosus (SLE). The genes BANK1 and BLK were recently described as associated with SLE. BANK1 codes for a B-cell-specific cytoplasmic protein involved in B-cell receptor signalling and BLK codes for an Src tyrosine kinase with important roles in B-cell development. To characterise the role of BANK1 and BLK in SLE, a genetic interaction analysis was performed hypothesising that genetic interactions could reveal functional pathways relevant to disease pathogenesis.MethodsThe GPAT16 method was used to analyse the gene-gene interactions of BANK1 and BLK. Confocal microscopy was used to investigate co-localisation, and immunoprecipitation was used to verify the physical interaction of BANK1 and BLK.ResultsEpistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed in a discovery set of 279 patients and 515 controls from northern Europe. A meta-analysis with 4399 European individuals confirmed the genetic interactions between BANK1 and BLK. As BANK1 was identified as a binding partner of the Src tyrosine kinase LYN, the possibility that BANK1 and BLK could also show a protein-protein interaction was tested. The co-immunoprecipitation and co-localisation of BLK and BANK1 were demonstrated. In a Daudi cell line and primary naive B cells endogenous binding was enhanced upon B-cell receptor stimulation using anti-IgM antibodies.ConclusionsThis study shows a genetic interaction between BANK1 and BLK, and demonstrates that these molecules interact physically. The results have important consequences for the understanding of SLE and other autoimmune diseases and identify a potential new signalling pathway. | |
700 | 1 | a Delgado-Vega, Angélica M.u Uppsala universitet,Genomik4 aut0 (Swepub:uu)angde679 |
700 | 1 | a Wojcik, Jerome4 aut |
700 | 1 | a Kozyrev, Sergey V.u Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)sekoz957 |
700 | 1 | a Thavathiru, Elangovan4 aut |
700 | 1 | a Wu, Ying-Yu4 aut |
700 | 1 | a Sanchez, Elena4 aut |
700 | 1 | a Pöllmann, Davidu Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut |
700 | 1 | a Lopez-Egido, Juan R.u Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)juanramo |
700 | 1 | a Fineschi, Serenau Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut |
700 | 1 | a Dominguez, Nicolas4 aut |
700 | 1 | a Lu, Rufei4 aut |
700 | 1 | a James, Judith A.4 aut |
700 | 1 | a Merrill, Joan T.4 aut |
700 | 1 | a Kelly, Jennifer A.4 aut |
700 | 1 | a Kaufman, Kenneth M.4 aut |
700 | 1 | a Moser, Kathy L.4 aut |
700 | 1 | a Gilkeson, Gary4 aut |
700 | 1 | a Frostegård, Johanu Karolinska Institutet4 aut |
700 | 1 | a Pons-Estel, Bernardo A.4 aut |
700 | 1 | a D'Alfonso, Sandra4 aut |
700 | 1 | a Witte, Torsten4 aut |
700 | 1 | a Luis Callejas, Jose4 aut |
700 | 1 | a Harley, John B.4 aut |
700 | 1 | a Gaffney, Patrick M.4 aut |
700 | 1 | a Martin, Javier4 aut |
700 | 1 | a Guthridge, Joel M.4 aut |
700 | 1 | a Alarcon-Riquelme, Marta E.4 aut |
710 | 2 | a Uppsala universitetb Genomik4 org |
773 | 0 | t Annals of the Rheumatic Diseasesd : BMJg 71:1, s. 136-142q 71:1<136-142x 0003-4967x 1468-2060 |
856 | 4 | u https://europepmc.org/articles/pmc3268679?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-167163 |
856 | 4 8 | u https://doi.org/10.1136/annrheumdis-2011-200085 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:123742896 |
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