Evidence map›Paper›PMID 17696299›Full record

ArticleCroatian medical journal2007

Y-chromosome short tandem repeat DYS458.2 non-consensus alleles occur independently in both binary haplogroups J1-M267 and R1b3-M405.

Natalie M Myres, Jayne E Ekins, Alice A Lin, L Luca Cavalli-Sforza, Scott R Woodward, Peter A Underhill

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Article in Croatian medical journal, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

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18citing papers in PubMed
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3 · Its place in the literature

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18 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Natalie M MyresSorenson Molecular Genealogy Foundation, Salt Lake City, Utah, USA.
Jayne E Ekins
Alice A Lin
L Luca Cavalli-Sforza
Scott R Woodward
Peter A Underhill

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo determine the human Y-chromosome haplogroup backgrounds of non-consensus DYS458.2 short tandem repeat alleles and evaluate their phylogenetic substructure and frequency in representative samples from the Middle East, Europe, and Pakistan.

methodsMolecular characterization of lineages was achieved using a combination of Y-chromosome haplogroup defining binary polymorphisms and up to 37 short tandem repeat loci, including DYS388 to construct haplotypes. DNA sequencing of the DYS458 locus and median-joining network analyses were used to evaluate Y-chromosome lineages displaying the DYS458.2 motif.

resultsWe showed that the DYS458.2 allelic innovation arose independently on at least two distinctive binary haplogroup backgrounds and possibly a third as well. The partial allele length pattern was fixed in all haplogroup J1 chromosomes examined, including its known rare sub-haplogroups. Within the alternative R1b3 associated M405 defined sub-haplogroup, both DYS458.0 and DYS458.2 allele classes occurred. A single chromosome also allocated to the R1b3-M269*(xM405) classification. The physical position of the partial insertion/deletion occurrence within the normal tetramer tract differed distinctly in each haplogroup context.

conclusionsWhile unusual DYS458.2 alleles are informative, additional information for other linked polymorphic loci is required when using such non-conforming alleles to infer haplogroup background and common ancestry.

Indexed as

Gene FrequencyHaplotypesMicrosatellite RepeatsAllelesChromosomes, Human, YEuropeGenetics, PopulationHumansPakistanPoint MutationPolymorphism, GeneticPolymorphism, Single NucleotideSequence Analysis, DNATurkey

Identifiers

PMID17696299
PMCPMC2080563

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.