Molecular Biology and Evolution, Vol 16, 147-156, Copyright © 1999 by Society for Molecular Biology and Evolution
X Gu and M Nei
We have conducted an extensive phylogenetic analysis of polymorphic alleles
from human and mouse major histocompatibility complex (MHC) class I and
class II genes. The phylogenetic tree obtained for 212 complete human class
I allele sequences (HLA-A, -B, and -C) has shown that all alleles from the
same locus form a single cluster, which is highly supported by bootstrap
values, except for one HLA-B allele (HLA- B*7301). Mouse MHC class I loci
did not show locus-specific clusters of polymorphic alleles. This was
considered to be because of either interlocus genetic exchange or the
confusing designation of loci in different haplotypes at the present time.
The locus specificity of polymorphic alleles was also observed in human and
mouse MHC class II loci. It was therefore concluded that interlocus
recombination or gene conversion is not very important for generating MHC
diversity, with a possible exception of mouse class I loci. According to
the phylogenetic trees of complete coding sequences, we classified human
MHC class I (HLA-A, -B, and -C) and class II (DRB1) alleles into three to
five major allelic lineages (groups), which were monophyletic with high
bootstrap values. Most of these allelic groups remained unchanged even in
phylogenetic trees based on individual exons, though this does not exclude
the possibility of intralocus recombination involving short DNA segments.
These results, together with the previous observation that MHC loci are
subject to frequent duplication and deletion, as well as to balancing
selection, indicate that MHC evolution in mammals is in agreement with the
birth-and-death model of evolution, rather than with the model of concerted
evolution.
ORIGINAL ARTICLE
Locus specificity of polymorphic alleles and evolution by a birth-and- death process in mammalian MHC genes
Institute of Molecular Evolutionary Genetics, Pennsylvania State University, USA. xgu@iastate.edu
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