Phylogenetic resolution of complex mutational features at Y-STR DYS390 in aboriginal Australians and Papuans

Forster, Peter; Kayser, Manfred; Meyer, Eckhard; Roewer, Lutz; Pfeiffer, Heidi; Benkmann, Heide‐G.; Brinkmann, B.

doi:10.1093/oxfordjournals.molbev.a026018

Cited by 52 publications

(50 citation statements)

References 13 publications

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“…Ht4 (RPS4Y/M216) was observed in Lombok Is., Alor Is., Irian Jaya, S. and C. Sulawesi. [Forster et al 1998;Kayser et al, 2000]. For YCAII nomenclature see Quintana-Murci et al [1999].…”

Section: Discussionmentioning

confidence: 99%

“…The microsatellites studied included DYS19 [Roewer et al, 1992], also referred to as DYS394 [Jobling and Tyler-Smith, 1995], YCAIIa, YCAIIb [Mathias et al, 1994] and DYS390 [Forster et al, 1998]. For DYS19, YCAIIa, and YCAIIb, one fluorescent labeled primer and one unlabeled primer for each locus was amplified in a 10 µl PCR reaction using reagent and PCR conditions as described in Ruiz Linares et al [1996].…”

Section: Y-chromosome Microsatellitesmentioning

confidence: 99%

“…Finally, haplotype ht22 is defined by the M45 mutation and occurs in a single Maori subject (1.9%). Table 2 presents the distribution of microsatellite haplotypes associated with each of the lineages defined by binary haplotypes (ht3, ht12, ht16) that were not considered of European heritage.The DYS390 locus, whose complex structure, composed of both tetra and trinucleotide repeats, [Forster et al, 1998] is the least variable in each of the three lineages. All the individuals belonging to the M38 lineage exhibited a short (< 200 bp) allele for the DYS390 locus, with the deletion of the DYS 390.3 element [Forster et al, 1998;Kayser et al, 2000].…”

Section: Y-chromosome Haplotypes and Frequenciesmentioning

confidence: 99%

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Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific

et al. 2001

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“…Ht4 (RPS4Y/M216) was observed in Lombok Is., Alor Is., Irian Jaya, S. and C. Sulawesi. [Forster et al 1998;Kayser et al, 2000]. For YCAII nomenclature see Quintana-Murci et al [1999].…”

Section: Discussionmentioning

confidence: 99%

Section: Y-chromosome Microsatellitesmentioning

confidence: 99%

Section: Y-chromosome Haplotypes and Frequenciesmentioning

confidence: 99%

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Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific

et al. 2001

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“…The DYS390.1 deletion has been associated with DYS390 allele lengths ranging from 18 to 22 repeats and so far is specific to Australians. 20,24,29 Several FE groups (Ivatan, Agta, Ati, Surigaonon, Mamanwa, and Manobo) have C-RPS4Y/DYS390 allele lengths within this range (Supplementary Table 2). Although sequence analysis would be required to definitely Figure 3).…”

Section: Genetic Affinities Of Filipino Ethnolinguistic Groupsmentioning

confidence: 99%

The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups

et al. 2010

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The Philippines exhibits a rich diversity of people, languages, and culture, including so-called 'Negrito' groups that have for long fascinated anthropologists, yet little is known about their genetic diversity. We report here, a survey of Y-chromosome variation in 390 individuals from 16 Filipino ethnolinguistic groups, including six Negrito groups, from across the archipelago. We find extreme diversity in the Y-chromosome lineages of Filipino groups with heterogeneity seen in both Negrito and non-Negrito groups, which does not support a simple dichotomy of Filipino groups as Negrito vs non-Negrito. Filipino non-recombining region of the human Y chromosome lineages reflect a chronology that extends from after the initial colonization of the Asia-Pacific region, to the time frame of the Austronesian expansion. Filipino groups appear to have diverse genetic affinities with different populations in the Asia-Pacific region. In particular, some Negrito groups are associated with indigenous Australians, with a potential time for the association ranging from the initial colonization of the region to more recent (after colonization) times. Overall, our results indicate extensive heterogeneity contributing to a complex genetic history for Filipino groups, with varying roles for migrations from outside the Philippines, genetic drift, and admixture among neighboring groups.

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“…This would result in larger variance and gene diversity values. At least for DYS390, the high mutation rate due to variation in distinct repeat blocks was already noted (Forster et al 1998).…”

Section: Dys19 Flanking Regions and Repeat Blocksmentioning

confidence: 97%

Divergent Human Y-Chromosome Microsatellite Evolution Rates

et al. 1999

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Abstract:In this work, we analyze several characteristics influencing the low variability of the microsatellite DYS19 in the major founder Amerindian Y chromosome lineage containing the point mutation DYS199-T. Variation of DYS19 was compared with that of five other Y-linked tetranucleotide repeat loci (DYS389A, DYS389B, DYS390, DYS391, and DYS393) in the DYS199-T lineage. All the other microsatellites showed significantly higher levels of variability than DYS19 as measured by gene diversity and repeat number variance. Moreover, we had previously shown that DYS19 had high diversity in Brazilians and in several other populations worldwide. Thus, the slow DYS19 evolution in the DYS199-T lineage seems to be both locus and allele specific. To understand the slow DYS19 evolutionary rate, the microsatellite loci were compared according to their mapping on the Y chromosome and also on the basis of structural aspects such as the base composition of the repeat motif and flanking regions and the degree of perfection and size (repeat number) of the variable blocks. The only observed difference that might be related to the low DYS19 variability is its small average number of repeats, a value expected to be closer to the founder DYS19 allele in the DYS199-T lineage. These data were also compared to other derived Y lineages. The Tat-C lineage displayed a lower DYS19 variability correlated to a small average repeat number, while in the DYS234-G lineage, a high DYS19 variability was found associated to a larger average repeat number. This approach reveals that evolution of Y microsatellites in lineages defined by slowly evolving markers, such as point mutations, can be greatly influenced by the size (number of repeats of the variable block) of the founder allele in each microsatellite locus. Thus lineage-dating methods using microsatellite variation should be practiced with great care.

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Phylogenetic resolution of complex mutational features at Y-STR DYS390 in aboriginal Australians and Papuans

Cited by 52 publications

References 13 publications

Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific

Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific

The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups

Divergent Human Y-Chromosome Microsatellite Evolution Rates

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