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Hans G. Zachau
The Immunoglobulin ? Gene Families of Human and Mouse: a Cottage Industry Approach
Some aspects of the work of our group on the human and mouse immunoglobulin ? genes are reviewed. The human ? locus contains a large duplication: a 600 kb C-proximal copy with 40 V? genes is found in the close vicinity of a 440 kb C?-distal copy with 36 very similar, but not identical, V? genes. The chimpanzee has only the C?-proximal copy of the locus. The locus of the mouse is close to 3.2 Mb in size, of which 3.1 Mb have been cloned in four contigs, leaving three small gaps of together about 90 kb; 140 V? genes and pseudogenes were localized and sequenced. In parallel to the elucidation of the structure of the ? loci, the mechanisms of the V-J rearrangement, somatic hypermutation and ? gene expression were studied. Various polymorphisms were detected in the human population and a number of haplotypes defined. In addition to the V? genes within the loci numerous V? orphons were localized on different chromosomes. Comparing the ? loci of different species allows some interesting conclusions as to the evolution of this multigene family. Finally our strategy of elucidating the structure and function of the ? loci, which has been termed a ‘cottage industry approach’, is discussed in relation to the large-scale genome analysis as pursued today using automated methods.
Biological Chemistry, Walter de Gruyter
Print ISSN: 1431-6730
Volume: 381, 09/2000
Pages: 951 - 954