Forensic value of 14 novel STRs on the human Y chromosome

Redd, Alan J.; Agellon, Al; Kearney, Veronica A; Contreras, Veronica A; Karafet, Tatiana M.; Park, Hwayong; Knijff, Peter de; Butler, John M.; Hammer, Michael F.

doi:10.1016/s0379-0738(02)00347-x

Cited by 148 publications

(114 citation statements)

References 34 publications

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“…P25 is not the only widely used marker within the palindromic repeats of Yq: the Y-STR DYS464 [21][22][23][24] lies in the 'r' type repeats of the AZFc region [13], and is present in four copies in the database sequence. It may owe its high diversity to gene conversion between copies, as well as to conventional slippage mutation processes.…”

Section: Discussionmentioning

confidence: 99%

The case of the unreliable SNP: Recurrent back-mutation of Y-chromosomal marker P25 through gene conversion

Adams

King

Bosch

et al. 2006

Forensic Science International

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The Y-chromosomal binary marker P25 is a paralogous sequence variant, rather than a SNP: three copies of the P25 sequence lie within the giant palindromic repeats on Yq, and one copy has undergone a C to A transversion to define haplogroup R1b (designated C/C/A). Since gene conversion is known to be active in the palindromic repeats, we reasoned that P25 might be liable to back mutation by gene conversion, yielding the ancestral state C/C/C. Through analysis of a set of binary markers in Y chromosomes in two large samples from Great Britain and the Iberian Peninsula we show that such conversion events have occurred at least twice, and provide preliminary evidence that the reverse conversion event (yielding C/A/A) has also occurred. Because of its inherent instability, we suggest that P25 be used with caution in forensic studies, and perhaps replaced with the more reliable binary marker M269.3

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Section: Discussionmentioning

confidence: 99%

The case of the unreliable SNP: Recurrent back-mutation of Y-chromosomal marker P25 through gene conversion

Adams

King

Bosch

et al. 2006

Forensic Science International

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“…Two classes of markers on the Y chromosome, including 71 SNPs and 12 STRs, were genotyped as described elsewhere (18,28).…”

Section: Methodsmentioning

confidence: 99%

Coevolution of languages and genes on the island of Sumba, eastern Indonesia

Lansing

Cox

Downey

et al. 2007

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

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Numerous studies indicate strong associations between languages and genes among human populations at the global scale, but all broader scale genetic and linguistic patterns must arise from processes originating at the community level. We examine linguistic and genetic variation in a contact zone on the eastern Indonesian island of Sumba, where Neolithic Austronesian farming communities settled and began interacting with aboriginal foraging societies Ϸ3,500 years ago. Phylogenetic reconstruction based on a 200-word Swadesh list sampled from 29 localities supports the hypothesis that Sumbanese languages derive from a single ancestral Austronesian language. However, the proportion of cognates (words with a common origin) traceable to Proto-Austronesian (PAn) varies among language subgroups distributed across the island. Interestingly, a positive correlation was found between the percentage of Y chromosome lineages that derive from Austronesian (as opposed to aboriginal) ancestors and the retention of PAn cognates. We also find a striking correlation between the percentage of PAn cognates and geographic distance from the site where many Sumbanese believe their ancestors arrived on the island. These language-gene-geography correlations, unprecedented at such a fine scale, imply that historical patterns of social interaction between expanding farmers and resident hunter-gatherers largely explain community-level language evolution on Sumba. We propose a model to explain linguistic and demographic coevolution at fine spatial and temporal scales.Austronesian languages ͉ cognate ͉ contact zone ͉ language evolution ͉ Y chromosome haplogroups L anguages, like populations, change over time, but the rules governing language change are still not well understood. Because lexical and structural innovation, borrowing, and loss are difficult to observe and quantify over brief periods (1) and are impossible to witness over long periods, researchers are forced to undertake indirect approaches to infer the processes of language change. One such approach is to look for associations between linguistic and genetic classifications. Many well-known studies have identified associations between the languages and genes of human populations at continental and global geographic scales (2-6).

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“…Among them, the most polymorphic is the tetralocal microsatellite DYS464 (Redd et al, 2002;Berger et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

“…DYS464 consists of four identical copies (a, b, c, and d) of the tetranucleotide repeat (CCTT) n on the palindromic AZF region (Kuroda-Kawaguchi et al, 2001) in band Yq11.223 of the Y-chromosome (Redd et al, 2002) (Figure 1). It is believed that the tetra-local structure evolved from two sequential duplications of an original monomer, promoted by mitotic recombination events (Kuroda-Kawaguchi et al, 2001;Skaletsky et al, 2003;Rozen et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

“…Although DYS464 has been studied in some human populations (Redd et al, 2002;Berger et al, 2003;Butler and Schoske, 2005), a more complete study of this marker in worldwide human population has not yet been reported. In this article, we describe our results on the typing of DYS464 in all male samples from HGDP-CEPH Human Genome Diversity Cell Line Panel (Cann et al, 2002) and discuss its diversity and phylogeography in different human populations.…”

Section: Introductionmentioning

confidence: 99%

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Worldwide diversity of the Y-chromosome tetra-local microsatellite DYS464

Kehdy¹,

Pena²

2010

Genet. Mol. Res.

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ABSTRACT. Of all DNA markers on the human Y-chromosome, the tetra-local Y-linked microsatellite DYS464 is the most polymorphic. We genotyped DYS464 in 677 male samples collected worldwide, maintained in the HGDP-CEPH Human Genome Diversity Cell Line Panel. Fourteen different alleles were found, with allele lengths varying from 9 to 23 repeats. One hundred and seventy-five different genotypes were detected, of which 90 appeared to be continent-specific. The region with the highest percentage of unique genotypes was Africa. Genotype diversity was 0.98 for Europe, 0.97 for Central and East Asia, 0.95 for Africa, 0.94 for Oceania, 0.92 for the Middle East, and 0.90 for the Americas. A hierarchical analysis of molecular variance showed low levels of worldwide genetic structure; 88.42% of the genetic variance was found within populations, 9.62% between populations within regions and 1.96% between regions. Since the four DYS464 repeats are identical, one cannot assign each peak in the electropherogram to a specific locus. Thus, the same genotype may correspond to several haplotypes, with different permutations of alleles. Consequently, genotypes are degenerate, which limits phylogeographical analyses. Yet, because of its high variability, DYS464 still constitutes an informative tool for population and evolutionary studies.

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Forensic value of 14 novel STRs on the human Y chromosome

Cited by 148 publications

References 34 publications

The case of the unreliable SNP: Recurrent back-mutation of Y-chromosomal marker P25 through gene conversion

The case of the unreliable SNP: Recurrent back-mutation of Y-chromosomal marker P25 through gene conversion

Coevolution of languages and genes on the island of Sumba, eastern Indonesia

Worldwide diversity of the Y-chromosome tetra-local microsatellite DYS464

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