Document Detail

Y-chromosome short tandem repeat DYS458.2 non-consensus alleles occur independently in both binary haplogroups J1-M267 and R1b3-M405.
MedLine Citation:
PMID:  17696299     Owner:  NLM     Status:  MEDLINE    
AIM: To 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. METHODS: Molecular 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. RESULTS: We 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. CONCLUSIONS: While 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.
Natalie M Myres; Jayne E Ekins; Alice A Lin; L Luca Cavalli-Sforza; Scott R Woodward; Peter A Underhill
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Croatian medical journal     Volume:  48     ISSN:  1332-8166     ISO Abbreviation:  Croat. Med. J.     Publication Date:  2007 Aug 
Date Detail:
Created Date:  2007-08-16     Completed Date:  2007-09-25     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  9424324     Medline TA:  Croat Med J     Country:  Croatia    
Other Details:
Languages:  eng     Pagination:  450-9     Citation Subset:  IM    
Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah, USA.
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MeSH Terms
Chromosomes, Human, Y / genetics*
Gene Frequency*
Genetics, Population
Microsatellite Repeats*
Point Mutation
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Sequence Analysis, DNA

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