Nomenclature for human complement component C2*

Terminology/Terminologie Nomenclature for human complement component C2* WHO-IUIS Nomenclature Sub-Committee' This note describes the designations for variants of the human complement component C2, which were approved by the Nomenclature Committee of the International Union of Immunological Societies (IUIS). C2 variants The reference typing recommended by the Sixth Com- plement Genetics Workshop permits nine electropho- retic variants of C2 to be distinguished (Fig. 1). In addition to the common form C2 C, four acidic variants and four basic variants are observed (Table 1). Differences in pl between variants are difficult to establish. We therefore propose to designate the variants according to their relative IEF migration, taking the distance between the two major bands of the common C2 C as a reference unit. This distance has been estimated to be approximately 0.1 pH inter- val (3). As initially proposed, the common C2 allele is called C2*C; the acidic and basic alleles are designated C2*A and C2*B, respectively (1, 2). The numeric symbols, corresponding to the relative migration value, clearly permit the rare acidic and * This article was drafted by a group of experts at the time of the Vlth Complement Genetics Workshop (Mainz, Germany, 1989) and has been approved by the Nomenclature Committee of IUIS. A French translation appears on pages 529-530. Requests for reprints and all correspondence should be addres- sed to the Chairman of the IUIS Nomenclature Committee, Dr M.D. Kazatchkine, Unite d'Immunopathologie, H6pital Broussais, 96 rue Didot, 75014-Paris, France. Members of the group of experts: G. Hauptmann (France) (Chairman), M. Abbal (France), C.A. Alper (USA), D. Arnold (France), F. Christiansen (Australia), R.L. Dawkins (Australia), G. Doxiadis (Germany), G. Geserick (Germany), C.M. Giles (United Kingdom), M. Hobart (United Kingdom), I. Jahn (France), M.L. Lokki (Finland), G. Mauff (Germany), S. Nakamura (Japan), G.J. O'Neill (USA), Ch. Rittner (Germany), P.M. Schneider (Ger- many), O.G. Segurado (Spain), I. Siemens (Germany), K. Suzuki (Japan), K. Tokunaga (Japan), and B. Uring-Lambert (France). Reprint No. 5310 rare basic variants to be differentiated. However, the most common basic variant (approximate gene frequency, 0.02 to 0.04), designated in this nomen- clature as B03, may still in common usage be named C2 B. The nomenclature of all the variants tested for the Workshop is given in Fig. 1 and con- forms to the guidelines of the international system for human gene nomenclature (6). The previously described C2 Al and C2 A2 variants (4, 5) were not available for comparison. Consequently, the pres- ent note probably does not include all of the variants of C2 thus disclosed. Other variants and new variants may easily be included in this nomenclature after comparison with the currently reported variants. References 1. Alper, C. Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and BF. J. exp. med., 144: 1111-1115 (1976). 2. Jahn, I. et al. C2 reference typing report. Comple- ment inflamm., 7: 175-182 (1990). 3. Meo, T. et al. Mapping of the HLA locus controlling C2 structural variants and linkage disequilibrium be- tween alleles C22 and Bw 15. Eur. j. immunol., 6: 916-919 (1976). 4. Pariser, K. et al. Evidence for silent or null gene in hereditary C2 deficiency. J. immunol., 121: 2580-2581 (1978). 5. Raum, D. et al. Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. Am. j. hum. genet., 31: 35-41 (1979). 6. Shows, T.B. et al. International system for human gene nomenclature. Cytogenet. cell genet., 25: 96-116 (1979). Bulletin of the World Health Organization, 70 (4): 527-528 (1992) 527 WHO-IUIS Nomenclature Sub-Committee Table 1: The conclusive identification of C2 allotypeSa New designation Old designation Native 02 C2a fragment Desialized 02 Native 02 and desialized 02 A08 A04 A03 A02 C B03 B07 BOB Bi AX - AT C B - BH BJ + + + + + + + + + + + + + + + - + + + + + + a + : method sufficient by itself for the identification of the variant. ±+ results need confirmation by data obtained from other methods. -:method not sufficient by itself for identifying the variant. Study of native and desialized 02 is necessary to identify all 02 variants. Fig. 1. Schematic representation of the C2 allotypes of C2 (IEF and immunoblotting of the native protein) and nomenclature of C2 variants. The two major bands of the common form 02 C are indicated by arrows. The distance be- tween the arrows is used as a reference unit for the estimation of the relative lEF migration distances, permitting a numeric designation. The new variant designation is indicated in bold characters. m - - -~4- C - 4 C A04 A03 A02 C B03 807 AT C B BH BJ ~~~~~~~~~~~~~~~~~~~~~~~~~WHO Bulletin OMS. Vol 70 1992 AOB AX B08 81 528 Nomenclature de C2, deuxieme composant du complement humain* Sous-comite de nomenclature OMS-UISI1 Cette note a pour but de pr6senter des recommandations pour la d6signation des variants du C2, le deuxi6me composant du compl6ment humain, approuv6es par le Comit6 de nomenclature de l'Union internationale des Soci6t6s d'Immunologie (UISI). Variants du C2 Les travaux du Vle Atelier sur la g6netique du com- plement ont permis de distinguer neuf variants elec- trophoretiques du C2, schematiquement representes a la figure 1. En plus de la forme courante C2 C, quatre variants acides et quatre variants basiques ont et identifies (tableau 1). La difference entre les points isoelectriques des variants est difficile a mettre en evidence; c'est pour- quoi, il est propose de designer les variants selon leur distance relative de migration en focalisation isoelectrique, en prenant comme unite de reference la distance qui separe les deux bandes majeures de la forme la plus courante C2 C. Cette distance corres- pond approximativement a 0,1 unite de pH (3). Conformement a une proposition anterieure, l'allele le plus frequent de C2 sera appele C2*C; les alleles acides et basiques seront designes par C2*A et C2*B respectivement (1, 2). Les chiffres indiquant les dis- tances relatives de migration permettent de distin- * Cette note terminologique a ete redig6e par un groupe d'experts a l'occasion du Vle Atelier sur la genetique du comple- ment qui s'est tenu a Mayence (Allemagne) en juillet 1989. Elle a et approuv6e par le Comite de nomenclature de l'UISI. L'ori- ginal anglais figure dans ce meme Bulletin, pages 527-528. Tires a part et correspondance: Dr M. Kazatchkine, President du Comite de nomenclature de l'UISI, Unite d'immunopathologie, H6pital Broussais, 96 rue Didot, 75014 Paris (France). 1 Membres du groupe d'experts: G. Hauptmann (France) (Res- ponsable du groupe dexperts), M. Abbal (France), C.A. Alper (Etats-Unis d'Am6rique), D. Arnold (France), F. Christiansen (Australie), R.L. Dawkins (Australie), G. Doxiadis (Allemagne), G. Geserick (Allemagne), C.M. Giles (Royaume-Uni), M. Hobart (Royaume-Uni), I. Jahn (France), M.L. Lokki (Finlande), G. Mauff (Allemagne), S. Nakamura (Japon), G.J. O'Neill (Etats-Unis d'Amerique), Ch. Rittner (Allemagne), P.M. Schneider (Alle- magne), O.G. Segurado (Espagne), I. Siemens (Allemagne), K. Suzuki (Japon), K. Tokunaga (Japon), B. Uring-Lambert (France). guer les variants acides et basiques rares. Cependant, le plus frequent des variants basiques (dont la frequence genique est d'environ 0,02 'a 0,04), desi- gne dans cette nomenclature par B03, pourra tou- jours etre designe par C2 B dans la nomenclature courante. La nomenclature de tous les variants testes pour l'Atelier est presentee a la figure 1. Cette nomenclature est conforme aux recommendations de "l'International system for gene nomenclature" (6). Les variants C2 Al et C2 A2 precedemment decrits (4 et 5) n'ont pas pu etre inclus dans cette etude. La nomenclature presentee ici n'inclut probablement donc pas tous les variants connus de C2. D'autres variants, nouvellement ou anciennement decrits, pourront facilement etre inclus dans la nomenclature apres qu'ils aient ete compares aux variants decrits ici. Bibliographie 1 Alper, C. Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and BF. J. exp. med., 144: 1111-1115 (1976). 2. Jahn, I. et al. C2 reference typing report. Comple- ment inflamm., 7: 175-182 (1990). 3. Meo, T. et al. Mapping of the HLA locus controlling C2 structural variants and linkage disequilibrium bet- ween alleles C22 and Bw 15. Eur. j. immunol., 6: 916-919 (1976). 4. Pariser, K. et al. Evidence for silent or null gene in hereditary C2 deficiency. J. immunol., 121: 2580-2581 (1978). 5. Raum, D. et al. Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. Am.j. hum. genet., 31: 35-41 (1979). 6. Shows, T.B. et al. International system for human gene nomenclature. Cytogenet. cell genet., 25: 96-116 (1979). Bulletin de l'Organisation mondiale de la Sant6, 70 (4): 529-530 (1992) 529 Sous-Comit6 de nomenclature OMS-UISI Tableau 1: Identification des allotypes de C2a Nouvelle designation Ancienne designation C2 natif Fragment C2a C2 d6sialMl A08 A04 A03 A02 C B03 B07 B08 B1 - AX - AT C B - BH BJ + + + + + + + + _ _ _ __ + +_ + _ + C2 natif et C2 d6sialile + + + + + + + + + a +: la methode donne une identification satisfaisante du variant. + les resultats demandent a etre confirmes par d'autres m6thodes. -: la m6thode donne une identification insatisfaisante du variant. L'etude doit avoir lieu sur le C2 natif et sur le C2 d6sialile pour pouvoir identifier tous ses variants. Fig. 1. Representation sch6matique des allotypes de C2 (focalisation isoelectrique et immunotransfert de la prot6ine native) et nomenclature des variants de C2. Les deux bandes principales de la forme commune C2 C sont indiquees par des fleches. La distance entre les fleches sert d'unite de r6f6rence pour estimer la mesure de la distance relative de migration des variants, laquelle permet d'avoir une nomenclature numerique. La nouvelle nomenclature est donnee en caracteres gras. - -_ - -4- C --C A08 A04 A03 A02 C B03 B07 B08 AT C B - BH BJ WHO Bulletin OMS. Vol 70 1992 AX 530