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Evolution of human immunoglobulin kappa J region genes
Ist Teil von
The Journal of biological chemistry, 1982-02, Vol.257 (3), p.1516-1522
Ort / Verlag
United States: American Society for Biochemistry and Molecular Biology
Erscheinungsjahr
1982
Quelle
MEDLINE
Beschreibungen/Notizen
Immunoglobulin kappa chain variable region genes are assembled from two discontinuous DNA segments, a V and a J gene. The
J region genes, in addition to encoding amino acid positions 96-108 of the kappa polypeptide chain, also provide sequences
required for both DNA and RNA splicing reactions. For purposes of evolutionary comparison and to establish the complexity
of the kappa J region locus in man, we have determined an approximately 3000 basepair nucleotide sequence in a cloned human
DNA fragment that encodes the germline distinct J region segments. Significant blocks of homology have been tightly maintained
between this region and an analogous segment of the mouse genome. In particular, the short sequences, GGTTTTTGT and CACTGTG,
thought to be involved in V-J recombination, are the most highly conserved regions (97% homology). In addition, from heteroduplex
data and computer analysis of the nucleotide sequences, it is clear that the mouse J3 sequence, a pseudogene, is not present
in the human cluster. This can be explained by a duplication event in the mouse J region gene cluster that may have been the
result of unequal crossing over between homologous chromosomes.