title: Large-scale sequence comparisons reveal unusually high levels of variation in the HLA-DQB1 locus in the class II region of the human MHC.
abstract: Comparison of genomic sequences flanking the HLA-DQB1 locus in the human MHC class II region reveals local sequence variation of up to 10%, which is the highest level of sequence variation found in the human genome so far. The variation is haplotype-specific and extends far beyond the transcriptional unit of the DQB1 gene, suggesting hitch-hiking along with functionally selected alleles as the most likely mechanism. All major insertions/deletions (indels) were found to be of retroviral origin and in the immediate upstream region of DQB1. Possible cis-acting effects of these indels on the transcriptional regulation of DQB1 are discussed.
authors.affiliation: The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.
authors.forename: R
authors.initials: R
authors.lastname: Horton
authors.forename: D
authors.initials: D
authors.lastname: Niblett
authors.forename: S
authors.initials: S
authors.lastname: Milne
authors.forename: S
authors.initials: S
authors.lastname: Palmer
authors.forename: B
authors.initials: B
authors.lastname: Tubby
authors.forename: J
authors.initials: J
authors.lastname: Trowsdale
authors.forename: S
authors.initials: S
authors.lastname: Beck
mesh_terms: D000067696:Ataxin-1; D000067528:Ataxins; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005786:Gene Expression Regulation; D005802:Genes, MHC Class II; D014644:Genetic Variation; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012190:Retroviridae / Q000235:genetics; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins