@article{fdi:010061445,
  title = {{H}aptoglobin ({HP}) and {H}aptoglobin-related protein ({HPR}) copy number variation, natural selection, and trypanosomiasis},
  author = {{H}ardwick, {R}. {J}. and {M}{\'e}nard, {A}. and {S}ironi, {M}. and {M}ilet, {J}acqueline and {G}arcia, {A}ndr{\'e} and {S}ese, {C}. and {Y}ang, {F}. {T}. and {F}u, {B}. {Y}. and {C}ourtin, {D}avid and {H}ollox, {E}. {J}.},
  editor = {},
  language = {{ENG}},
  abstract = {{H}aptoglobin, coded by the {HP} gene, is a plasma protein that acts as a scavenger for free heme, and haptoglobin-related protein (coded by the {HPR} gene) forms part of the trypanolytic factor {TLF}-1, together with apolipoprotein {L}1 ({A}po{L}1). {W}e analyse the polymorphic small intragenic duplication of the {HP} gene, with alleles {H}p1 and {H}p2, in 52 populations, and find no evidence for natural selection either from extended haplotype analysis or from correlation with pathogen richness matrices. {U}sing fiber-{FISH}, the paralog ratio test, and array-{CGH} data, we also confirm that the {HPR} gene is copy number variable, with duplication of the whole {HPR} gene at polymorphic frequencies in west and central {A}frica, up to an allele frequency of 15 %. {T}he geographical distribution of the {HPR} duplication allele overlaps the region where the pathogen causing chronic human {A}frican trypanosomiasis, {T}rypanosoma brucei gambiense, is endemic. {T}he {HPR} duplication has occurred on one {SNP} haplotype, but there is no strong evidence of extended homozygosity, a characteristic of recent natural selection. {T}he {HPR} duplication shows a slight, non-significant undertransmission to human {A}frican trypanosomiasis-affected children of unaffected parents in the {D}emocratic {R}epublic of {C}ongo. {H}owever, taken together with alleles of {APOL}1, there is an overall significant undertransmission of putative protective alleles to human {A}frican trypanosomiasis-affected children.},
  keywords = {},
  booktitle = {},
  journal = {{H}uman {G}enetics},
  volume = {133},
  numero = {1},
  pages = {69--83},
  ISSN = {0340-6717},
  year = {2014},
  DOI = {10.1007/s00439-013-1352-x},
  URL = {https://www.documentation.ird.fr/hor/fdi:010061445},
}