Polymorphisms and haplotypes in the human immunoglobulin <i>x</i> locus

Pargent, Walter; Schäble, Karlheinz F.; Zachau, Hans G.

doi:10.1002/eji.1830210808

Cited by 40 publications

(21 citation statements)

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“…'*' indicates the beginning and end of the deletion in 3D15H3. A common sequence motif found near non-homologous recombination breakpoints (Chou and Morrison, 1993 (1992) and Pargent et al (1991)] as has been described earlier . This would leave the first rearrangement in the opposite transcriptional orientation on the chromosome.…”

Section: Introductionmentioning

confidence: 63%

Tracing B cell development in human germinal centres by molecular analysis of single cells picked from histological sections.

et al. 1993

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Section: Introductionmentioning

confidence: 63%

Tracing B cell development in human germinal centres by molecular analysis of single cells picked from histological sections.

et al. 1993

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“…Pargent et al (10) have reported 16 polymorphisms in the human Ig k locus by comparing the restriction patterns of the DNA from 23 unrelated individuals. The human Ig k locus comprises two very similar but not identical copies on the short arm of chromosome 2 at 2p11-2p12: Ck proximal copy and distal copy (32).…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, it is reported that there are at least 16 polymorphisms and 9 haplotypes in the Vk cluster of normal individuals (10). It has been reported that certain polymorphisms within the human Ig Vk locus are associated with rheumatoid arthritis (11,12).…”

Section: Introductionmentioning

confidence: 99%

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Characterization of a germline Vk gene encoding cationic anti-DNA antibody and role of receptor editing for development of the autoantibody in patients with systemic lupus erythematosus.

Suzuki¹,

Harada²,

Mihara³

et al. 1996

J. Clin. Invest.

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We found previously that cationic anti-DNA autoantibodies (autoAbs) have nephritogenic potential and usage of a specific germline Vk gene, A30, has major influences on cationic charge of the autoAb in human lupus nephritis. In the present study, we have characterized A30 germline Vk gene using cosmid cloning technique in patients with SLE. A30 gene locus locates in less than 250 kb from the Ck region, and the cationic anti-DNA mRNA used the upstream Jk2 gene, indicating that cationic anti-DNA mRNA is a product of primary gene rearrangement. By using PCR technique, we found that A30 gene locus in the genome was defective in eight out of nine SLE patients without nephritis.

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“…In one haplotype (No. 11) the whole distal copy of the locus is deleted (Pargent et al, 1991). With the help of an individual who is homozygous for this deletion we could study the function of a specific distal gene (A2), which codes for the most common light chain in the Haemophilus influenzae response.…”

Section: Work On Immunoglobulin Genes In Munichmentioning

confidence: 99%

The Immunoglobulin κ Gene Families of Human and Mouse: a Cottage Industry Approach

Zachau

2000

Biological Chemistry

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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. Key words: Contigs / Human / Immunoglobulin locus / Mouse.The genes and loci of the immunoglobulin heavy and light chains have been reviewed by Honjo and Alt (1995) and by Max (1999). A wealth of structural and functional data is also available on the Internet (Immunoglobulin gene databases, 1999). Work on Immunoglobulin Genes in MunichIn our laboratory the work on immunoglobulin genes started in the late '70s with experiments in which the chromatin structure of expressed genes in mouse myelomas was compared to the chromatin structure of the corresponding silent genes in mouse liver. In the following years both chromatin and immunoglobulin gene projects were pursued in our laboratory, but it turned out that the chromatin work was slow-moving and not very informative. On the other hand, at that time Tonegawa discovered the recombination of variable, joining and constant (V, J, C) gene segments and many researchers, including us, were intrigued by the new possibilities of cloning and analyzing mammalian genes. We found the reciprocal recombination products, now called signal joints (Steinmetz et al., 1980), contributed to the understanding of somatic mutations (Pech et al., 1981) and defined the immunoglobulin gene promoter (Falkner and Zachau, 1984). The last chromatin project in our lab came to an end in 1984. A few years later chromatin research picked up momentum worldwide again, but by then we were fully engaged in work on immunoglobulin genes and did not return to chromatin.After working on immunoglobulin genes for a few years we felt that in order to understand certain functional and mechanistic aspects, we should know all V, J and C genes in at least one of the loci. Therefore in 1982 we embarked on an attempt to clone all human immunoglobulin V genes. 12 year...

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Polymorphisms and haplotypes in the human immunoglobulin x locus

Cited by 40 publications

References 21 publications

Tracing B cell development in human germinal centres by molecular analysis of single cells picked from histological sections.

Tracing B cell development in human germinal centres by molecular analysis of single cells picked from histological sections.

Characterization of a germline Vk gene encoding cationic anti-DNA antibody and role of receptor editing for development of the autoantibody in patients with systemic lupus erythematosus.

The Immunoglobulin κ Gene Families of Human and Mouse: a Cottage Industry Approach

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