Locus-specific conservation of the HLA class I introns by intra-locus homogenization Journal Article


Authors: Cereb, N.; Hughes, A. L.; Yang, S. Y.
Article Title: Locus-specific conservation of the HLA class I introns by intra-locus homogenization
Abstract: The protein-coding sequences of the major histocompatibility complex (MHC) genes are characterized by extraordinarily high polymorphism, apparently maintained by balancing selection, which favors diversity in the peptide-binding domains of the MHC glycoproteins. Here we report that the introns flanking the polymorphic exons of the human MHC class I loci HLA-A, -B, and -C genes have been relatively conserved and have become locus-specific apparently as a result of recombination and subsequent genetic drift, leading to homogenization within loci over evolutionary time. Thus, HLA class I genes have been shaped by contrasting evolutionary forces maintaining polymorphism in the exons and leading to conservation in the introns. This study provides the first extensive analysis of the introns of a highly polymorphic gene family.
Keywords: human cell; exon; exons; animals; gene locus; intron; alleles; introns; evolution; conserved sequence; recombination, genetic; hla antigen class 1; hla-c antigens; cell line, transformed; base sequence; major histocompatibility complex; polymorphism, genetic; mutagenesis; genetic conservation; hla-a antigens; hla-b antigens; genetic polymorphism; chromosome mapping; conservation; hla; genetic drift; pan troglodytes; genes, mhc class i; class i; humans; human; priority journal; article; locus-specific
Journal Title: Immunogenetics
Volume: 47
Issue: 1
ISSN: 0093-7711
Publisher: Springer  
Date Published: 1997-11-01
Start Page: 30
End Page: 36
Language: English
DOI: 10.1007/s002510050323
PUBMED: 9382918
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 17 March 2017 -- Source: Scopus
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MSK Authors
  1. Soo Y Yang
    108 Yang
  2. Nezih Cereb
    25 Cereb