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IMGT Locus on Focus Exp Clin Immunogenet 1999;16:173–184 The Human Immunoglobulin Heavy Diversity (IGHD) and Joining (IGHJ) Segments Manuel Ruiz Nathalie Pallarès Valérie Contet Valérie Barbié Marie-Paule Lefranc Laboratoire d’ImmunoGénétique Moléculaire CNRS, Université Montpellier II, Montpellier, France Received: December 22, 1998 Prof. Marie-Paule Lefranc, Université Montpellier II Lab. d’ImmunoGénétique Moléculaire, LIGM, UPR CNRS 1142, IGH 141 rue de la Cardonille, F–34396 Montpellier Cedex 5 (France) Tel. +33 (0)4 99 61 99 65, Fax +33 (0)4 99 61 99 01 E-Mail [email protected], IMGT: http://imgt.cnusc.fr:8104 ABC Fax + 41 61 306 12 34 E-Mail karger@karger. ch www.karger.com © 1999 S. Karger AG, Basel 0254–9670/99/0163–0173$17.50/0 Accessible online at: http://BioMedNet.com/ karger Key Words Human W IMGT W Immunoglobulin W Heavy Abstract The ‘Human Immunoglobulin Heavy Diversi- ty (IGHD) and Joining (IGHJ) segments’, fifth report of the ‘IMGT Locus on Focus’ section, comprises six tables entitled: (1) ‘Human germline IGHD segments at 14q32.33’; (2) ‘Human IGHD alleles’; (3) ‘Human germline IGHJ segments at 14q32.33’; (4) ‘Human IGHJ alleles’; (5) ‘Human germline IGHD or- phons on chromosome 15 (15q11.2)’; (6) ‘Correspondence between the different hu- man IGHD nomenclatures’, and two figures: (1) ‘Protein display of human IGH D-RE- GIONs’; (2) ‘Protein display of human IGH J-REGIONs’. These tables and figures are available at the IMGT Marie-Paule page from IMGT, the international ImMunoGeneTics database (http://imgt.cnusc.fr:8104) created by Marie-Paule Lefranc, Université Montpel- lier II, CNRS, France. Introduction ‘Human Immunoglobulin Heavy Diversi- ty (IGHD) and Joining (IGHJ) segments’ is the fifth report of the ‘IMGT Locus on Focus’ section launched in the April 1998 issue of Experimental and Clinical Immunogenetics [1], with the first report on the human IGLV genes and IGLJ segments [2], the second re- port on human IGKV genes and IGKJ seg- ments [3], the third report on mouse (Mus musculus) IGKV genes and IGKJ segments [4] and the fourth report on human IGHV genes [5].

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Page 1: The Human Immunoglobulin Heavy Diversity (IGHD) and ... · Fondation pour la Recherche Médicale, Ligue Nationale contre le Cancer, and the Région Langue-doc-Roussillon. Fig. 1

IMGT Locus on Focus

Exp Clin Immunogenet 1999;16:173–184

The Human Immunoglobulin HeavyDiversity (IGHD) and Joining (IGHJ)Segments

Manuel Ruiz Nathalie Pallarès Valérie Contet Valérie Barbié

Marie-Paule Lefranc

Laboratoire d’ImmunoGénétique Moléculaire CNRS, Université Montpellier II,

Montpellier, France

Received: December 22, 1998

Prof. Marie-Paule Lefranc, Université Montpellier IILab. d’ImmunoGénétique Moléculaire, LIGM, UPR CNRS 1142, IGH141 rue de la Cardonille, F–34396 Montpellier Cedex 5 (France)Tel. +33 (0)4 99 61 99 65, Fax +33 (0)4 99 61 99 01E-Mail [email protected], IMGT: http://imgt.cnusc.fr:8104

ABCFax + 41 61 306 12 34E-Mail [email protected]

© 1999 S. Karger AG, Basel0254–9670/99/0163–0173$17.50/0

Accessible online at:http://BioMedNet.com/karger

Key WordsHuman W IMGT W Immunoglobulin W Heavy

AbstractThe ‘Human Immunoglobulin Heavy Diversi-

ty (IGHD) and Joining (IGHJ) segments’, fifth

report of the ‘IMGT Locus on Focus’ section,

comprises six tables entitled: (1) ‘Human

germline IGHD segments at 14q32.33’; (2)

‘Human IGHD alleles’; (3) ‘Human germline

IGHJ segments at 14q32.33’; (4) ‘Human

IGHJ alleles’; (5) ‘Human germline IGHD or-

phons on chromosome 15 (15q11.2)’; (6)

‘Correspondence between the different hu-

man IGHD nomenclatures’, and two figures:

(1) ‘Protein display of human IGH D-RE-

GIONs’; (2) ‘Protein display of human IGH

J-REGIONs’. These tables and figures are

available at the IMGT Marie-Paule page from

IMGT, the international ImMunoGeneTics

database (http://imgt.cnusc.fr:8104) created

by Marie-Paule Lefranc, Université Montpel-

lier II, CNRS, France.

Introduction

‘Human Immunoglobulin Heavy Diversi-ty (IGHD) and Joining (IGHJ) segments’ isthe fifth report of the ‘IMGT Locus on Focus’section launched in the April 1998 issue ofExperimental and Clinical Immunogenetics[1], with the first report on the human IGLVgenes and IGLJ segments [2], the second re-port on human IGKV genes and IGKJ seg-ments [3], the third report on mouse (Musmusculus) IGKV genes and IGKJ segments[4] and the fourth report on human IGHVgenes [5].

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174 Exp Clin Immunogenet 1999;16:173–184 Ruiz/Pallarès/Contet/Barbié/Lefranc

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Human IGHD and IGHJ Segments Exp Clin Immunogenet 1999;16:173–184 175

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176 Exp Clin Immunogenet 1999;16:173–184 Ruiz/Pallarès/Contet/Barbié/Lefranc

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Human IGHD and IGHJ Segments Exp Clin Immunogenet 1999;16:173–184 177

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178 Exp Clin Immunogenet 1999;16:173–184 Ruiz/Pallarès/Contet/Barbié/Lefranc

This report completes the tables of theimmunoglobulin germline genes in humansand comprises six tables entitled:(1) ‘Human germline IGHD segments at

14q32.33’;(2) ‘Human IGHD alleles’;(3) ‘Human germline IGHJ segments at

14q32.33’;(4) ‘Human IGHJ alleles’;(5) ‘Human germline IGHD orphons on

chromosome 15 (15q11.2)’;(6) ‘Correspondence between the different

human IGHD nomenclatures’,

and two figures:(1) ‘Protein display of human IGH D-RE-

GIONs’;(2) ‘Protein display of human IGH J-RE-

GIONs’.

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Human IGHD and IGHJ Segments Exp Clin Immunogenet 1999;16:173–184 179

These tables and figures are available atthe IMGT Marie-Paule page from IMGT,the international ImMunoGeneTics database(http://imgt.cnusc.fr:8104) created by Ma-rie-Paule Lefranc, Université Montpellier II,CNRS, France [6–8].

Description of functionality (FUNC-TIONAL, ORF, PSEUDOGENE) and de-scription of mutations [1] are according to theIMGT scientific chart available at the IMGTMarie-Paule page [8].

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180 Exp Clin Immunogenet 1999;16:173–184 Ruiz/Pallarès/Contet/Barbié/Lefranc

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Human IGHD and IGHJ Segments Exp Clin Immunogenet 1999;16:173–184 181

(For legend 1 see p. 184.)

1a

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182 Exp Clin Immunogenet 1999;16:173–184 Ruiz/Pallarès/Contet/Barbié/Lefranc

(For legends 1 and 2 see p. 184.)

1b

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Human IGHD and IGHJ Segments Exp Clin Immunogenet 1999;16:173–184 183

1c

2

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184 Exp Clin Immunogenet 1999;16:173–184 Ruiz/Pallarès/Contet/Barbié/Lefranc

Acknowledgments

We are grateful to Gérard Lefranc, Johanne Abad,Sylvaine Artéro, Géraldine Folch, Véronique Giudi-celli, Christèle Jean, and Dominique Scaviner for help-ful discussion. IMGT is funded by the EuropeanUnion’s BIOTECH programme (BIO4CT96–0037),Centre National de la Recherche Scientifique, and the

Ministère de l’Education Nationale, de la Recherche etde la Technologie. Subventions have been receivedfrom: Association pour la Recherche sur le Cancer,Association de la Recherche sur la Polyarthrite,Fondation pour la Recherche Médicale, LigueNationale contre le Cancer, and the Région Langue-doc-Roussillon.

Fig. 1. Protein display of human IGH D-REGIONs.Amino acids are shown with one-letter abbreviations.D-REGIONs are shown in the three reading frames.Some of the D-REGIONs having been found in in-verted orientations [9, 10], the IGH D-REGIONs areshown in both direct 5)-3) and inverted orientations.

Fig. 2. Protein display of human IGH J-REGIONs.Amino acids are shown with one-letter abbreviations.The conserved W-G-X-G (Trp-Gly-X-Gly) motif isunderlined. Note that the JUNCTIONs of rearrangedIGHV-D-J-GENEs extend from 2nd-CYS (cystein 104of the V-REGION) to J-TRP (conserved Trp of theJ-REGION), whereas the CDR3-IMGT extend fromamino acid 105 of the V-REGION to J-TRP notincluded.

References

1 Lefranc MP: IMGT Locus on Focus.Exp Clin Immunogenet 1998;15:1–7.

2 Pallarès N, Frippiat JP, GiudicelliV, Lefranc MP: The human immu-noglobulin lambda variable (IGLV)genes and joining (IGLJ) segments.Exp Clin Immunogenet 1998;15:8–18.

3 Barbié V, Lefranc MP: The humanimmunoglobulin kappa variable(IGKV) genes and joining (IGKJ)segments. Exp Clin Immunogenet1998;15:171–183.

4 Martinez C, Lefranc MP: Themouse (Mus musculus) immuno-globulin kappa variable (IGKV)genes and joining (IGKJ) segments.Exp Clin Immunogenet 1998;15:184–193.

5 Pallarès N, Lefebvre S, Contet V,Matsuda F, Lefranc MP: The hu-man immunoglobulin heavy vari-able (IGHV) genes. Exp Clin Immu-nogenet 1999;16:36–60.

6 Giudicelli V, Chaume D, Bodmer J,Müller W, Busin C, Marsh S, Bon-trop R, Lemaitre M, Malik A, Le-franc MP: IMGT, the internationalImMunoGeneTics database. Nucle-ic Acids Res 1997;25:206–211.

7 Lefranc MP, Giudicelli V, Busin C,Bodmer J, Müller W, Bontrop R,Lemaitre M, Malik A, Chaume D:IMGT, the international ImMuno-GeneTics database. Nucleic AcidsRes 1998;26:297–303.

8 Lefranc MP, Giudicelli V, Gines-toux C, Bodmer J, Müller W, Bon-trop R, Lemaitre M, Malik A, Bar-bié V, Chaume D: IMGT, the inter-national ImMunoGeneTics data-base. Nucleic Acids Res 1999;27:209–212.

9 Yamada M, Wasserman R, Rei-chard BA, Shane S, Caton AJ, Ro-vera G: Preferential utilizationof specific immunoglobulin heavychain diversity and joining segmentsin adult human peripheral blood Blymphocytes. J Exp Med 1991;173:395–407.

10 Tuaillon N, Miller AB, Tucker PW,Capra JD: Analysis of direct andinverted DJH rearrangements in ahuman Ig heavy chain transgenicminilocus J Immunol 1995;154:6453–6465.