@article{fdi:010061949,
  title = {{G}enetic origins of lactase persistence and the spread of pastoralism in {A}frica},
  author = {{R}anciaro, {A}. and {C}ampbell, {M}. {C}. and {H}irbo, {J}. {B}. and {K}o, {W}. {Y}. and {F}roment, {A}lain and {A}nagnostou, {P}. and {K}otze, {M}. {J}. and {I}brahim, {M}. and {N}yambo, {T}. and {O}mar, {S}. {A}. and {T}ishkoff, {S}. {A}.},
  editor = {},
  language = {{ENG}},
  abstract = {{I}n humans, the ability to digest lactose, the sugar in milk, declines after weaning because of decreasing levels of the enzyme lactasephlorizin hydrolase, encoded by {LCT}. {H}owever, some individuals maintain high enzyme amounts and are able to digest lactose into adulthood (i. e., they have the lactase-persistence [{LP}] trait). {I}t is thought that selection has played a major role in maintaining this genetically determined phenotypic trait in different human populations that practice pastoralism. {T}o identify variants associated with the {LP} trait and to study its evolutionary history in {A}frica, we sequenced {MCM}6 introns 9 and 13 and similar to 2 kb of the {LCT} promoter region in 819 individuals from 63 {A}frican populations and in 154 non-{A}fricans from nine populations. {W}e also genotyped four microsatellites in an similar to 198 kb region in a subset of 252 individuals to reconstruct the origin and spread of {LP}-associated variants in {A}frica. {A}dditionally, we examined the association between {LP} and genetic variability at candidate regulatory regions in 513 individuals from eastern {A}frica. {O}ur analyses confirmed the association between the {LP} trait and three common variants in intron 13 ({C}-14010, {G}-13907, and {G}-13915). {F}urthermore, we identified two additional {LP}-associated {SNP}s in intron 13 and the promoter region ({G}-12962 and {T}-956, respectively). {U}sing neutrality tests based on the allele frequency spectrum and long-range linkage disequilibrium, we detected strong signatures of recent positive selection in eastern {A}frican populations and the {F}ulani from central {A}frica. {I}n addition, haplotype analysis supported an eastern {A}frican origin of the {C}-14010 {LP}-associated mutation in southern {A}frica.},
  keywords = {{AFRIQUE}},
  booktitle = {},
  journal = {{A}merican {J}ournal of {H}uman {G}enetics},
  volume = {94},
  numero = {4},
  pages = {496--510},
  ISSN = {0002-9297},
  year = {2014},
  DOI = {10.1016/j.ajhg.2014.02.009},
  URL = {https://www.documentation.ird.fr/hor/fdi:010061949},
}