@article{fdi:010079540,
  title = {{H}la-{C} genetic diversity and evolutionary insights in two samples from {B}razil and {B}enin},
  author = {{S}ouza, {A}. {S}. and {S}onon, {P}. and {P}az, {M}. {A}. and {T}okplonou, {L}. and {L}ima, {T}. {H}. {A}. and {P}orto, {I}. {O}. {P}. and {A}ndrade, {H}. {S}. and {S}ilva, {N}. {D}. {B}. and {V}eiga-{C}astelli, {L}. {C}. and {O}liveira, {M}. {L}. {G}. and {S}adissou, {I}. {A}. and {M}assaro, {J}. {D}. and {M}outairou, {K}. {A}. and {D}onadi, {E}. {A}. and {M}assougbodji, {A}. and {G}arcia, {A}ndr{\'e} and {I}bikounle, {M}. and {M}eyer, {D}. and {S}abbagh, {A}. and {M}endes, {C}. {T}. and {C}ourtin, {D}avid and {C}astelli, {E}. {C}.},
  editor = {},
  language = {{ENG}},
  abstract = {{H}uman leukocyte antigen-{C} ({HLA}-{C}) is a classical {HLA} class {I} molecule that binds and presents peptides to cytotoxic {T} lymphocytes in the cell surface. {HLA}-{C} has a dual function because it also interacts with {K}iller-cell immunoglobulin-like receptors ({KIR}) receptors expressed in natural killer and {T} cells, modulating their activity. {T}he structure and diversity of the {HLA}-{C} regulatory regions, as well as the relationship among variants along the {HLA}-{C} locus, are poorly addressed, and few population-based studies explored the {HLA}-{C} variability in the entire gene in different population samples. {H}ere we present a molecular and bioinformatics method to evaluate the entire {HLA}-{C} diversity, including regulatory sequences. {T}hen, we applied this method to survey the {HLA}-{C} diversity in two population samples with different demographic histories, one highly admixed from {B}razil with major {E}uropean contribution, and one from {B}enin with major {A}frican contribution. {T}he {HLA}-{C} promoter and 3 ' {UTR} were very polymorphic with the presence of few, but highly divergent haplotypes. {T}hese segments also present conserved sequences that are shared among different primate species. {N}ucleotide diversity was higher in other segments rather than exons 2 and 3, particularly around exon 5 and the second half of the 3 ' {UTR} region. {W}e detected evidence of balancing selection on the entire {HLA}-{C} locusand positive selection in the {HLA}-{C} leader peptide, for both populations. {HLA}-{C} motifs previously associated with {KIR} interaction and expression regulation are similar between both populations. {E}ach allele group is associated with specific regulatory sequences, reflecting the high linkage disequilibrium along the entire {HLA}-{C} locusin both populations.},
  keywords = {{B}eninese population ; {B}razilian population ; {HLA}-{C} ; natural selection ; {NGS} ; variability ; {BRESIL} ; {BENIN}},
  booktitle = {},
  journal = {{HLA}},
  volume = {96},
  numero = {4},
  pages = {468--486},
  ISSN = {2059-2302},
  year = {2020},
  DOI = {10.1111/tan.13996},
  URL = {https://www.documentation.ird.fr/hor/fdi:010079540},
}