A human Y-Linked DNA Polymorphism and Its Potential for Estimating Genetic and Evolutionary Distance

Casanova, M; Leroy, Pascale; Boucekkine, C.; Weissenbach, Jean; Bishop, Colin E.; Fellous, Marc; Purrello, Michele; Fiori, Gianmario; Siniscalco, M.

doi:10.1126/science.2999986

Cited by 123 publications

(76 citation statements)

References 22 publications

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“…The only other haplogroup known today with a high incidence of long DYS388 alleles is the Y chromosome lineage Hg 9. 12 This haplogroup is characterised by the p12f2-8kb allele 29 on a genetic background compatible with haplogroup 1A. 12 Hg 9 has also primarily a Mediterranean distribution, with its main concentration in the Middle East.…”

Section: Discussionmentioning

confidence: 99%

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

et al. 2001

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Deviation from the stepwise mutation model (SMM) at specific human microsatellite loci has implications for population genetic and forensic investigations. In the present study, data on six Y chromosome-specific microsatellites were pooled for 455 paternally unrelated males from six Middle Eastern populations. All chromosomes were assigned to three haplogroups defined by six binary polymorphisms. Two of the microsatellite loci tested, DYS388 and DYS392, displayed marked haplogroup-specific differences in their allele variability. A bimodal distribution of short and long alleles was observed for DYS388 in haplogroup 1 and for DYS392 in haplogroups 1 and 2. Further investigation showed that the short/long alleles segregated almost completely between genealogically distinct haplogroups defined by additional binary markers. Thus, these two loci have a discriminatory power similar to a binary polymorphism. DYS388 was characterised by an extremely low mutation rate in haplogroups 2 and 3, as was DYS392 in haplogroup 3. Sequence analysis of the repeat regions at the two loci revealed no irregularities, indicating that the triplet expansion in these loci is not controlled by sequence variation at the repeat level. A high frequency of long DYS388 alleles has, so far, been found only in populations originating in the Middle East, suggesting that this microsatellite is useful as a region-specific marker. European Journal of Human Genetics (2001) 9, 22-26.

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Section: Discussionmentioning

confidence: 99%

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

et al. 2001

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“…We screened 22 Y-chromosomal markers; 12 were binary (YAP, 92r7, SRY 4064, sY81, SRY + 465, TAT, M9, M13, M17, M20, SRY10831, and p12f2) and 10 were short tandem repeats (STR; DYS19, DYS388,DYS 389I and II,DYS390,DYS391,DYS392,DYS393,DYS425,DYS426), using primer sequences and protocols described before (Casanova et al 1985;Thomas et al 1999;Rosser et al 2000;Mukherjee et al 2001). For STRs, an ABI-3100 DNA sequencer and Genescan version 3.1 and Genotyper version 2.1 software packages were used.…”

Section: Loci and Protocolsmentioning

confidence: 99%

Ethnic India: A Genomic View, With Special Reference to Peopling and Structure

Basu

Mukherjee²,

Roy³

et al. 2003

Genome Res.

346

350

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We report a comprehensive statistical analysis of data on 58 DNA markers (mitochondrial [mt], Y-chromosomal, and autosomal) and sequence data of the mtHVS1 from a large number of ethnically diverse populations of India. Our results provide genomic evidence that (1) there is an underlying unity of female lineages in India, indicating that the initial number of female settlers may have been small; (2) the tribal and the caste populations are highly differentiated; (3) the Austro-Asiatic tribals are the earliest settlers in India, providing support to one anthropological hypothesis while refuting some others; (4) a major wave of humans entered India through the northeast; (5) the Tibeto-Burman tribals share considerable genetic commonalities with the Austro-Asiatic tribals, supporting the hypothesis that they may have shared a common habitat in southern China, but the two groups of tribals can be differentiated on the basis of Y-chromosomal haplotypes; (6) the Dravidian tribals were possibly widespread throughout India before the arrival of the Indo-European-speaking nomads, but retreated to southern India to avoid dominance; (7) formation of populations by fission that resulted in founder and drift effects have left their imprints on the genetic structures of contemporary populations; (8) the upper castes show closer genetic affinities with Central Asian populations, although those of southern India are more distant than those of northern India; (9) historical gene flow into India has contributed to a considerable obliteration of genetic histories of contemporary populations so that there is at present no clear congruence of genetic and geographical or sociocultural affinities.[Supplemental Material is available online at www.genome.org. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: C

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“…The DHPLC technique (see below) was used to genotype the 24 DHPLC identified markers as well as RPS4YC711T and SRY9138 [Whitfield et al, 1995]. Both YAP [Hammer and Horai, 1995] and 12f2 [Casanova et al, 1985;Sun et al, 2000] were typed following recommended PCR protocols. Marker details are as described and are also available upon request.…”

Section: Y-chromosome Binary Polymorphism Pcr and Haplotypingmentioning

confidence: 99%

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

et al. 2001

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A human Y-Linked DNA Polymorphism and Its Potential for Estimating Genetic and Evolutionary Distance

Cited by 123 publications

References 22 publications

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

Ethnic India: A Genomic View, With Special Reference to Peopling and Structure

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

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