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. 1979 Jan;76(1):452–456. doi: 10.1073/pnas.76.1.452

Human heavy chain disease protein WIS: implications for the organization of immunoglobulin genes.

E C Franklin, F Prelli, B Frangione
PMCID: PMC382958  PMID: 106391

Abstract

Protein WIS is a human gamma3 heavy (H) chain disease immunoglobulin variant whose amino acid sequence is most readily interpreted by postulating that three residues of the amino terminus are followed by a deletion of most of the variable (VH) domain, which ends at the variable-constant (VC) joining region. Then there is a stretch of eight residues, three of which are unusual, while the other five have striking homology to the VC junction sequence. This is followed by a second deletion, which ends at the beginning of the quadruplicated hinge region. These findings are consistent with mutations resulting in deletions of most of the gene coding for the V region and CH1 domain followed by splicing at the VC joining region and at the hinge. These structural features fit well the notion of genetic discontinuity between V and C genes and also suggest similar mechanisms of excision and splicing in the interdomain regions of the C gene of the heavy chain.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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