title: RS rearrangement frequency as a marker of receptor editing in lupus and type 1 diabetes.
abstract: Continued antibody gene rearrangement, termed receptor editing, is an important mechanism of central B cell tolerance that may be defective in some autoimmune individuals. We describe a quantitative assay for recombining sequence (RS) rearrangement that we use to estimate levels of antibody light chain receptor editing in various B cell populations. RS rearrangement is a recombination of a noncoding gene segment in the kappa antibody light chain locus. RS rearrangement levels are highest in the most highly edited B cells, and are inappropriately low in autoimmune mouse models of systemic lupus erythematosus (SLE) and type 1 diabetes (T1D), including those without overt disease. Low RS rearrangement levels are also observed in human subjects with SLE or T1D.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: Anil K
authors.initials: AK
authors.lastname: Panigrahi
authors.forename: Noah G
authors.initials: NG
authors.lastname: Goodman
authors.forename: Robert A
authors.initials: RA
authors.lastname: Eisenberg
authors.forename: Michael R
authors.initials: MR
authors.lastname: Rickels
authors.forename: Ali
authors.initials: A
authors.lastname: Naji
authors.forename: Eline T
authors.initials: ET
authors.lastname: Luning Prak
mesh_terms: D000328:Adult; D000368:Aged; D000818:Animals; D015551:Autoimmunity / Q000502:physiology; D001402:B-Lymphocytes / Q000276:immunology / Q000502:physiology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015328:Gene Rearrangement, B-Lymphocyte, Light Chain; D005803:Genes, Immunoglobulin; D005819:Genetic Markers; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000378:metabolism; D016131:Lymphocyte Subsets; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D008875:Middle Aged; D055815:Young Adult
chemical_list: D005819:Genetic Markers