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Duplication and deletion in the human immunoglobulin ϵ genes

Authors
Journal
Cell
0092-8674
Publisher
Elsevier
Publication Date
Volume
29
Issue
2
Identifiers
DOI: 10.1016/0092-8674(82)90185-4
Disciplines
  • Medicine

Abstract

Abstract The human IgE gene encodes a polypeptide chain that is involved in allergic reactions and in the immune response to parasitic disease in man. We have cloned three chromosomal regions corresponding to this sequence and find that two of them derive from curiously duplicated gene segments that also encode IgA constant-region genes. One of the IgE sequences corresponds to the active gene, and its structure defines a complete amino acid sequence of the human IgE constant region. The other cloned segment is a pseudogene from which the first two IgE coding domains have been deleted and replaced by a switch-like sequence that also occurs close to the normal IgE gene. The third IgE segment remains unlinked to the other heavy-chain genes. Evidently, the epsilon-alpha locus has been the site of several complicated genetic rearrangements during recent evolutionary time.

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