Locus-specific conservation of the HLA class I introns by intra-locus homogenization (original) (raw)

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.

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Authors and Affiliations

  1. Immunology Program and Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA, , , , , , US
    N. Cereb & Soo Young Yang
  2. Department of Biology, Pennsylvania State University, University Park, PA 16802, USA, , , , , , US
    Austin L. Hughes

Authors

  1. N. Cereb
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  2. Austin L. Hughes
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  3. Soo Young Yang
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Received: 10 April 1997 / Revised: 15 July 1997

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Cereb, N., Hughes, A. & Yang, S. Locus-specific conservation of the HLA class I introns by intra-locus homogenization.Immunogenetics 47, 30–36 (1997). https://doi.org/10.1007/s002510050323

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