Molecular Biology and Evolution, Vol 12, 247-258, Copyright © 1995 by Society for Molecular Biology and Evolution
AL Hughes
The HLA (human major histocompatibility complex, or MHC) region includes
three types of class I MHC genes: (1) class Ia loci (HLA-A, - B, and -C),
which are highly expressed and polymorphic; (2) class Ib loci, which have
much reduced expression and polymorphism; and (3) unexpressed class I
pseudogenes. Phylogenetic analysis suggests that both class Ib loci and
class I pseudogenes arose by duplication of class Ia loci. 5' regulatory
elements conserved in class Ia genes are not conserved in either class Ib
or class I pseudogenes, but the former show evidence of purifying selection
at nonsynonymous sites in coding regions that is lacking in the latter. In
the HLA class I region, there is little correspondence between map distance
and phylogenetic distance, suggesting a complex history of tandem gene
duplications. Furthermore, separate phylogenetic analysis of different gene
regions suggests that several class I genes are evolutionary chaemeras,
which presumably have arisen as a result of a process of interlocus
recombination. For example, the 5' flanking region of the HLA-92 pseudogene
was donated by a gene related to HLA-B and -C; and the HLA-A gene arose
when exons 1-3 (and intervening introns) were donated to a gene related to
the HLA-70 pseudogene by a gene related to HLA-B and -C.
ORIGINAL ARTICLE
Origin and evolution of HLA class I pseudogenes
Department of Biology, Pennsylvania State University, University Park 16802.
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