Familial clustering of IGHC deletions and duplications: functional and molecular analysis

Bottaro, Andrea; Gallina, Roberto; Brusco, Alfredo; Cariota, U; Boccazzi, C; Barilaro, Maria Rosa; Plebani, Alessandro; Ugazio, Alberto G.; Leeuwen, A.M. van; DeLange, G G; Vaerman, Jp.; Carbonara, A. O.

doi:10.1007/bf00216800

Cited by 19 publications

(9 citation statements)

References 21 publications

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“…The numbers 16, 20, 14 and 26 are left unused to avoid conflict with previous publications. These data are consistent with those reported by other authors using the pulsed field gel electrophoresis method for Mediterranean populations (Italy, Sardinia) and Sweden (Bottaro et al 1991;Bottaro et al 1993;Brusco et al 1993;Brusco et al 1994;Brusco et al 1995). New haplotypes described by Dard et al (1996), following analysis by one of us (M.-P.L.)…”

Section: Discussionsupporting

confidence: 91%

Bam HI- Sac I RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication

Osipova¹,

Posukh²,

Wiebe³

et al. 1999

Human Genetics

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Gm immunoglobulin allotypes have been studied in 1157 individuals of seven Northern Selkup populations, which account for 80% of the entire population of this west Siberian tribe. This study confirms that the northern Selkup populations are a Caucasoid-Mongoloid hybrid. Restriction fragment length polymorphism (RFLP) analysis of the IGHG genes using double BamHI-SacI digests, performed on 475 DNA samples, allowed us to describe nine new BamHI-SacI haplotypes (BS47 to BS55), eight of them being characterized by IGHG gene deletion or duplication: G1 (BS49) or G4 (BS55) deletion, G4 duplication (BS51), GP-G2-G4 multigene deletion (BS50), duplication (BS48, BS53 and BS54) or triplication (BS52). A new rare Gm haplotype 15,16*;1,17;23 has been found associated with BS52. The BS51 haplotype characterized by a duplicated G4 gene (additional 7.85 kb G4 band identifying a new G4*C5 allele) was always found associated with the Gm 5*;3;23 haplotype. A high RFLP diversity has been observed for the Northern-Mongoloid haplotype Gm 15,16*;1,17;.. which was found (1) with the BS27 haplotype characterized by a 3-exon hinge G3 gene, (2) with two different GP-G2-G4 multigene duplications, BS53 and BS54 haplotypes, which differ by the size of the duplicated G4 genes, and (3) with the BS55 haplotype characterized by a G4 deletion. In the Northern Selkups, haplotypes with duplicated genes were observed at a higher frequency (24%) than haplotypes with deleted genes (6%).

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Section: Discussionsupporting

confidence: 91%

Bam HI- Sac I RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication

Osipova¹,

Posukh²,

Wiebe³

et al. 1999

Human Genetics

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“…Identification of deletions in the IGHC complex has been largely achieved by Gm typing and DNA restriction fragment length polymorphism analysis. Recently, application of the pulse field technique and PCR method have revealed new abnormal haplotypes by population screening (Bottaro et al 1988;Bottaro et al 1990;Bottaro et al 1993). Nineteen possible deletion haplotypes have been predicted, and most of them have been reported (Olsson et al 1992).…”

Section: Discussionmentioning

confidence: 99%

Defining the breakpoint of a multigene deletion in the immunoglobulin heavy chain gene cluster

1995

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The constant region of the human immunoglobulin heavy chain (IGHC) is encoded by a cluster of genes near the telomere of chromosome 14q. Deletions and duplications of single or multiple genes in the cluster have been identified, but little information about the breakpoint junctions has been available, in part due to the high degree of sequence similarity between the genes in this region. We report an intensive study of a homozygous deletion, using Southern hybridization and polymerase chain reaction techniques. We found that the deleted DNA includes the functional epsilon gene, and that the breakpoints are located within a 2 kilobase Bam HI/Sac I region of both the IGHEP1 and IGHE genes. These results revise a previous conclusion regarding the deleted region. Definition of breakpoints occurring within this cluster may shed light on recombination mechanisms.

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“…The locus is still evolving and up to 20% of the Caucasoid population and up to 44% of the Mongoloid population show duplications (due to unequal crossing over) of single or multiple heavy chain C region genes 5. An analysis of serological markers has shown that the duplicated genes are expressed 6 and increasing the levels of the serum Ig by duplication of the genes encoding the different Ig classes may constitute a way to increase resistance against infections.…”

Section: Introductionmentioning

confidence: 99%

Regulation of switching and production of IgA in human B cells in donors with duplicated α1 genes

et al. 2001

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IgA is the predominant immunoglobulin class synthesized in humans and can be subdivided into two subclasses, IgA1 and IgA2, each encoded by a separate gene and differentially expressed depending on age and anatomical localization of the producing cells. Duplication of the α1 gene is frequently observed in selected populations. As this duplication may serve to enhance IgA‐mediated immunity, we determined its effect on switching and production of IgA in human B cells. We developed a nested PCR strategy, involving sequencing the switch (S) α2 region, the only human S region not sequenced to date, to assess the proportion of cells switching to IgA1 and IgA2 in vivo. Our results show that there is no difference in the serum and salivary levels of IgA1 and IgA or rate of switching to IgA1 and IgA between normal donors and individuals carrying α1 gene duplications, suggesting involvement of a regulatory step in the production of IgA.

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Familial clustering of IGHC deletions and duplications: functional and molecular analysis

Cited by 19 publications

References 21 publications

Bam HI- Sac I RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication

Bam HI- Sac I RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication

Defining the breakpoint of a multigene deletion in the immunoglobulin heavy chain gene cluster

Regulation of switching and production of IgA in human B cells in donors with duplicated α1 genes

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