Extended HLA haplotypes in a carib amerindian population: the Yucpa of the Perija Range

Layrisse, Z.; Guedez, Y.; Dominguez, E.; Paz, Nelly; Montagnani, S.; Matos, M.; Herrera, Flor; Ogando, Violeta; Balbas, O.; Rodríguez-Larralde, Álvaro

doi:10.1016/s0198-8859(01)00297-x

Cited by 54 publications

(43 citation statements)

References 28 publications

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“…The Yucpa exhibit a typical Amerindian HLA class I distribution, in which a fraction of the major allele groups worldwide is represented (11,20). One HLA-A and three HLA-B alleles are ''new'' Amerindian-specific variants, the other 15 alleles, including all six HLA-C alleles, are shared with Asian populations and represent ''founder'' alleles brought by the Asian migrants who populated the Americas (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…DNA samples were obtained from 61 individuals from three villages (Aroy, Marewa, and Peraya) of the Yucpa Amerindian tribe (Table S1) (20). DNA samples from two other Amerindian Venezuelan tribes, Bari (n ϭ 19) and Warao (n ϭ 22), and one Mestizo mixed population from Caracas (n ϭ 21) were sequenced for selected KIR genes as indicated.…”

Section: Methodsmentioning

confidence: 99%

“…Epidemics of measles and malaria in the 1960s, were followed in 1979-1981 by an epidemic of combined hepatitis B and D that caused considerable mortality of the young (19). The 61 blood samples we studied were donated in 1993 by survivors of this epidemic (20).…”

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confidence: 99%

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Co-evolution of KIR2DL3 with HLA-C in a human population retaining minimal essential diversity of KIR and HLA class I ligands

Gendzekhadze

Norman

Abi-Rached

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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Natural killer (NK) cells contribute to immunity and reproduction.Guiding these functions, and NK cell education, are killer cell Ig-like receptors (KIR), NK cell receptors that recognize HLA class I. In most human populations, these highly polymorphic receptors and ligands combine with extraordinary diversity. To assess how much of this diversity is necessary, we studied KIR and HLA class I at high resolution in the Yucpa, a small South Amerindian population that survived an approximate 15,000-year history of population bottleneck and epidemic infection, including recent viral hepatitis. The Yucpa retain the three major HLA epitopes recognized by KIR. Through balancing selection on a few divergent haplotypes the Yucpa maintain much of the KIR variation found worldwide. HLA-C*07, the strongest educator of C1-specific NK cells, has reached unusually high frequency in the Yucpa. Concomitantly, weaker variants of the C1 receptor, KIR2DL3, were selected and have largely replaced the form of KIR2DL3 brought by the original migrants from Asia. HLA-C1 and KIR2DL3 homozygosity has previously been correlated with resistance to viral hepatitis. Selection of weaker forms of KIR2DL3 in the Yucpa can be seen as compensation for the high frequency of the potent HLA-C*07 ligand. This study provides an estimate of the minimal KIR-HLA system essential for long-term survival of a human population. That it contains all functional elements of KIR diversity worldwide, attests to the competitive advantage it provides, not only for surviving epidemic infections, but also for rebuilding populations once infection has passed.Amerindian ͉ immune diversity ͉ natural selection ͉ NK cells ͉ reproduction

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Co-evolution of KIR2DL3 with HLA-C in a human population retaining minimal essential diversity of KIR and HLA class I ligands

Gendzekhadze

Norman

Abi-Rached

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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“…Of the 19 examples of the -856 SNP in the Paez samples, only six were random and not associated with a known Amerindian haplotype (Table 2). Specifically, the -856 SNP was contained in eight (haplotypes 1-8, Table 2) of nine examples (haplotypes 1-9, Table 2) of an Amerindian HLA haplotype fragment defined by HLA-Cw*0102 and HLA-B*1522, 23 six of which also carried -DRB1*0407 (haplotypes 1-6, Table 2). Thus, the -856 TNF-a variant is a marker for the Amerindian haplotype fragment defined by HLA-Cw*0102, -B*1522, -DR*0407.…”

Section: Resultsmentioning

confidence: 99%

“…We also detected seven examples of another Amerindian HLA fragment defined by HLA-Cw*0702, -B*3905 20 in all cases associated with wild-type TNF-a promoters and all of seven were associated with HLA-DRB*1602, a known Amerindian allele 22 as opposed to the associated with DRB*0411 that had previously been detected in Yucpa Indians from Venezuela. 23 The Asian haplotype defined by HLA-Cw*0803, -B*48, and -DRB1*1402 is associated with the -237 SNP. The TNF-a SNPs occurring at -1030, À862, À856, À237 relative to the TNF-a transcription start site in the context of the specific haplotype displayed are noted and a (À) indicates that no SNP was detected.…”

Section: Resultsmentioning

confidence: 99%

TNF-α promoter single nucleotide polymorphisms are markers of human ancestry

et al. 2002

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We present a map of single nucleotide polymorphisms (SNPs) in the human tumor necrosis factor (TNF)-a promoter based upon exploratory sequencing of 333 human TNF-a gene promoters from individuals of distinct ancestral backgrounds. We detect 10 TNF-a promoter SNPs that occur with distinct frequencies in populations of different ancestry. Consistent with these findings, we show that two TNF-a SNPs, the À243 SNP and the À856 SNP, are the first SNP markers of a sub-Saharan African-derived extended haplotype and an Amerindian HLA haplotype, respectively. Comparisons of TNF-a promoter SNP allele frequencies can thus help elucidate variation of HLA haplotypes and their distribution among existing ethnic groups and shed light into the history of human populations.

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High KIR diversity in Amerindians is maintained using few gene-content haplotypes

et al. 2006

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Interaction between killer cell immunoglobulin-like receptors (KIR) and cognate HLA class I ligands influences the innate and adaptive immune response to infection. The KIR family varies in gene content and allelic polymorphism, thereby, distinguishing individuals and populations. KIR gene content was determined for 230 individuals from three Amerindian tribes from Venezuela: the Yucpa, Bari and Warao. Gene-content haplotypes could be assigned to 212 individuals (92%) because only five different haplotypes were present-group A and four group B. Six different haplotype combinations accounted for >80% of individuals. Each tribe has distinctive genotype frequencies. Despite few haplotypes, all 14 KIR genes are at high frequency in the three tribes, with the exception of 2DS3. Each population has an even frequency of group A and B haplotypes. Allele-level analysis of 3DL1/S1 distinguished five group A haplotypes and six group B haplotypes. The high frequency and divergence of the KIR haplotypes in the Amerindian tribes provide greater KIR diversity than is present in many larger populations. An extreme case being the Yucpa, for whom two gene-content haplotypes account for >90% of the population. These comprise the group A haplotype and a group B haplotype containing all the KIR genes, except 2DS3, that typify the group B haplotypes. Here is clear evidence for balancing selection on the KIR system and the biological importance of both A and B haplotypes for the survival of human populations.

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Extended HLA haplotypes in a carib amerindian population: the Yucpa of the Perija Range

Cited by 54 publications

References 28 publications

Co-evolution of KIR2DL3 with HLA-C in a human population retaining minimal essential diversity of KIR and HLA class I ligands

Co-evolution of KIR2DL3 with HLA-C in a human population retaining minimal essential diversity of KIR and HLA class I ligands

TNF-α promoter single nucleotide polymorphisms are markers of human ancestry

High KIR diversity in Amerindians is maintained using few gene-content haplotypes

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