Atlas of Genetics and Cytogenetics in Oncology and Haematology IGH (Immunoglobulin Heavy) I.pdf

Atlas of Genetics and Cytogenetics in Oncology and Haematology IGH (Immunoglobulin Heavy) Identity Note The human IGH locus is located on the chromosome 14 at band 14q32.33, at the telomeric extremity of the long arm; the orientation of the locus has been determined by the analysis of translocations, involving the IGH locus, in leukemia and lymphoma Hugo IGH@ Location 14q32.33 for complete Figure, see: chromosome 14, IMGT (The International ImMunoGeneTics information system ?) ? Copyright 1995-2003 IMGT, IMGT is a CNRS trademark DNA/RNA IGH V-GENE: Green box: Functional; Yellow box: Open reading frame; Red: Pseudogene; Grey triangle: Not sequenced, not found. D-GENE: Blue: Functional; Blue open box: Open reading frame. J-GENE: Grey: Functional . C-GENE: Blue: Functional; Blue dashed box: Open reading frame; Blue open box: Pseudogene. GENES NOT RELATED: Purple open box: Pseudogene. for compete Figure, see: locus IGH, IMGT (The International ImMunoGeneTics information system ?) ? Copyright 1995-2003 IMGT, IMGT is a CNRS trademark Description  The human IGH locus at 14q32.33 spans 1250 kilobases (kb). It consists of 123 to 129 IGHV genes, depending from the haplotypes, 27 IGHD segments belonging to 7 subgroups, 9 IGHJ segments, and 11 IGHC genes.  Eighty-two to 88 IGHV genes belong to 7 subgroups, whereas 41 pseudogenes, which are too divergent to be assigned to subgroups, have been assigned to 4 clans. Seven non-mapped IGHV genes have been described as insertion/deletion polymorphism but have not yet been precisely located.  The most 5 IGHV genes occupy a position very close to the chromosome 14q telomere whereas the IGHC genes are in a more Atlas Genet Cytogenet Oncol Haematol 2003; 4 -495- centromeric position.  The potentiel genomic IGH repertoire is more limited since it comprises 38-46 functional IGHV genes belonging to 6 or 7 subgroups depending from the haplotypes 23 IGHD, 6 IGHJ, and