Sequence and Phylogenetic Analysis of the Untranslated Promoter Regions for <i>HLA</i> Class I Genes.

ABSTRACT: Polymorphisms located within the MHC have been linked to many disease outcomes by mechanisms not yet fully understood in most cases. Variants located within untranslated regions of HLA genes are involved in allele-specific expression and may therefore underlie some of these disease associations. We determined sequences extending nearly 2 kb upstream of the transcription start site for 68 alleles from 57 major lineages of classical HLA class I genes. The nucleotide diversity within this promoter segment roughly follows that seen within the coding regions, with HLA-B showing the highest (∼1.9%), followed by HLA-A (∼1.8%), and HLA-C showing the lowest diversity (∼0.9%). Despite its greater diversity, HLA-B mRNA expression levels determined in 1

SUBMITTER: Ramsuran V 

PROVIDER: S-EPMC5340644 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature