Nonrandom allelic variation in the regulatory complex of HLA class I genes Journal Article


Authors: Cereb, N.; Lee, S.; Maye, P.; Kong, Y.; Yang, S. Y.
Article Title: Nonrandom allelic variation in the regulatory complex of HLA class I genes
Abstract: Recently, we have demonstrated that the HLA class I regulatory complex (CRC) is conserved in a locus-specific manner with limited allelic variation. In this study, we have analyzed the CRC sequences of the alleles that showed variation from a total of 22 well-characterized, HLA-homozygous B-LCLs, using PCR amplification of genomic DNA and direct sequencing. We compared the sequences of these alleles with their respective locus consensus sequence at κB1, κB2, the IRS, the putative NRE, and the HLA counterpart of the H-2RII region, the R × Rß-binding site. The palindromic κB1 sequence, an active enhancer, was found to be conserved in all HLA-A and -B alleles and in one HLA-C allele. The sequences of the κB2 site showed locus-specific divergence with almost no allelic variation. The IRS is strictly locus specific and HLA-B and -C have identical sequences in this region. Variation in the putative NRE sequence and RII-κB2 junctional sequence was apparently generated by gene conversion between B and C loci. Each locus had two sequence patterns at the putative RII site. Overall, sequence analysis of variant alleles demonstrated that there is limited variation in a nonrandom fashion. These results may provide a structural basis for locus and allele-specific modulation of these genes. © 1994.
Keywords: gene mutation; nonhuman; conference paper; allele; gene expression; cell line; gene locus; alleles; cell specificity; b-lymphocytes; transcription regulation; molecular sequence data; hla antigen class 1; hla-c antigens; base sequence; dna sequence; sequence homology; sequence homology, nucleic acid; genetic conservation; hla-a antigens; hla-b antigens; lymphoblastoid cell line; genetic regulation; human; priority journal; assortative mating; support, non-u.s. gov't; support, u.s. gov't, p.h.s.
Journal Title: Human Immunology
Volume: 41
Issue: 1
ISSN: 0198-8859
Publisher: Elsevier Inc.  
Date Published: 1994-09-01
Start Page: 46
End Page: 51
Language: English
DOI: 10.1016/0198-8859(94)90083-3
PROVIDER: scopus
PUBMED: 7836064
DOI/URL:
Notes: Export Date: 14 January 2019 -- Article -- Source: Scopus
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  1. Soo Y Yang
    108 Yang
  2. Nezih Cereb
    25 Cereb