Molecular Biology and Evolution, Vol 11, 469-482, Copyright © 1994 by Society for Molecular Biology and Evolution
T Ota and M Nei
Immunoglobulin diversity is generated primarily by the heavy- and light-
chain variable-region gene families. To understand the pattern of long-
term evolution of the heavy-chain variable-region (VH) gene family, which
is composed of a large number of member genes, the evolutionary
relationships of representative VH genes from diverse organisms of
vertebrates were studied by constructing a phylogenetic tree. This tree
indicates that the vertebrate VH genes can be classified into group A, B,
C, D, and E genes. All VH genes from cartilaginous fishes such as sharks
and skates from a monophyletic group and belong to group E, whereas group D
consists of bony-fish VH genes. By contrast, group C includes not only some
fish genes but also amphibian, reptile, bird, and mammalian genes. Group A
and B genes were composed of the genes from mammals and amphibians. The
phylogenetic analysis also suggests that mammalian VH genes are classified
into three clusters--i.e., mammalian clans I, II, and III-and that these
clans have coexisted in the genome for >400 Myr. To study the short-term
evolution of VH genes, the phylogenetic analysis of human group A (clan I)
and C (clan III) genes was also conducted. The results obtained show that
VH pseudogenes have evolved much faster than functional genes and that they
have branched off from various functional VH genes. There is little
indication that the VH gene family has been subject to concerted evolution
that homogenizes member genes. These observations indicate that the VH
genes are subject to divergent evolution due to diversifying selection and
evolution by the birth-and-death process caused by gene duplication and
dysfunctioning mutation. Thus, the evolutionary pattern of this
monofunctional multigene family is quite different from that of such gene
families as the ribosomal RNA and histone gene families.
ORIGINAL ARTICLE
Divergent evolution and evolution by the birth-and-death process in the immunoglobulin VH gene family
Department of Biology, Pennsylvania State University, University Park 16802.
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