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  • Castillejo-Lopez, Casimiro (author)

Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK

  • Article/chapterEnglish2012

Publisher, publication year, extent ...

  • 2011-10-06
  • BMJ,2012
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-167163
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-167163URI
  • https://doi.org/10.1136/annrheumdis-2011-200085DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:123742896URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Added entries (persons, corporate bodies, meetings, titles ...)

  • Delgado-Vega, Angélica M.Uppsala universitet,Genomik(Swepub:uu)angde679 (author)
  • Wojcik, Jerome (author)
  • Kozyrev, Sergey V.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)sekoz957 (author)
  • Thavathiru, Elangovan (author)
  • Wu, Ying-Yu (author)
  • Sanchez, Elena (author)
  • Pöllmann, DavidUppsala universitet,Institutionen för immunologi, genetik och patologi (author)
  • Lopez-Egido, Juan R.Uppsala universitet,Institutionen för immunologi, genetik och patologi(Swepub:uu)juanramo (author)
  • Fineschi, SerenaUppsala universitet,Institutionen för immunologi, genetik och patologi (author)
  • Dominguez, Nicolas (author)
  • Lu, Rufei (author)
  • James, Judith A. (author)
  • Merrill, Joan T. (author)
  • Kelly, Jennifer A. (author)
  • Kaufman, Kenneth M. (author)
  • Moser, Kathy L. (author)
  • Gilkeson, Gary (author)
  • Frostegård, JohanKarolinska Institutet (author)
  • Pons-Estel, Bernardo A. (author)
  • D'Alfonso, Sandra (author)
  • Witte, Torsten (author)
  • Luis Callejas, Jose (author)
  • Harley, John B. (author)
  • Gaffney, Patrick M. (author)
  • Martin, Javier (author)
  • Guthridge, Joel M. (author)
  • Alarcon-Riquelme, Marta E. (author)
  • Uppsala universitetGenomik (creator_code:org_t)

Related titles

  • In:Annals of the Rheumatic Diseases: BMJ71:1, s. 136-1420003-49671468-2060

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