Y-DNA Project

Theory (advanced)

All participants who are conversant with the theory presented for beginners and intermediate level are invited to study the selection of academic papers indexed below.

A Selection of Academic Papers

(click on a topic)
Papers on haplogroups | Papers on mutation rates

Technical papers on haplogroups and modal haplotypes

  • Sykes, B. et al. (2000) Am. J. Hum. Genet., 66: 1417-1419 "Surnames and the Y Chromosome"
    download PDF <116 kb>
    [Pioneering case study of a surname Y-DNA project; establishment of a surname modal haplotype]

  • Helgason, A. et al. (2000) Am. J. Hum. Genet., 67: 697-717 "Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland"
    download PDF <919 kb>
    [Study of proportion of hgs 1, 2 and 3 in Iceland, compared to Ireland, Scotland and Scandinavia; Irish Gaelic, Swedish Viking and Danish Viking haplotypes]

  • Hill, E. et al. (2000) Nature, 404: 351-352 "Y-chromosome variation and Irish origins"
    download PDF <175 kb>
    [Study of hg 1 cline across Europe generally, and across Ireland specifically; Irish Gaelic haplotypes]

  • Wilson, J.F. et al. (2001) PNAS, 98, 9: 5078-5083 "Genetic evidence for different male and female roles during cultural transitions in the British Isles"
    download PDF <914 kb>
    [Study of distribution of hg 1, ht 1.15 (AMH), hg 2 etc. across Ireland and Britain; establishment of Atlantic Modal Haplotype (AMH)]

  • Jobling M.A. (2001) Trends in Genetics, 17, 6: 353-357 "In the name of the father: surnames and genetics"
    download PDF <168 kb>
    [Pioneering study of Y-chromosomal haplotyping and patrilineal surnames]

  • *Note. Names of haplogroups and modal haplotypes were revised and standardised by the Y Chromosome Consortium (YCC) in 2002.

  • The Y Chromosome Consortium (2002) Genome Research, 12: 339-348 "A nomenclature system for the tree of human Y-chromosomal binary haplogroups"
    download PDF <441 kb>
    [New hierarchical naming system superseded and unified past systems, and provided future flexibility]

  • Capelli, C. et al. (2003) Current Biology, 13: 979-984 "A Y chromosome census of the British Isles"
    download PDF <209 kb>
    [Study of distribution of hgs R1xR1a1, IxI1b2 and R1a1 *(previously termed hgs 1, 2 and 3; see note above) across Ireland and Britain; Atlantic Modal Haplotype]

  • Jobling M.A. et al. (2003) Nature, 4: 598-612 "The human Y-chromosome: an evolutionary marker comes of age"
    download PDF <1,664 kb>
    [Review of advances in Y-chromosome analysis]

  • Rootsi C. et al. (2004) Am. J. Hum. Genet., 75: 128-137 "Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe"
    download PDF <416 kb>
    [Study of hg I and subclades I1a, I1b and I1c; Viking subclades]

  • McEvoy B. et al. (2004) Am. J. Hum. Genet., 75: 693-702 "The Longue Durée of Genetic Ancestry: Multiple Genetic Marker Systems and Celtic Origins on the Atlantic Facade of Europe"
    download PDF <392 kb>
    [Study of Irish genetic origins]

  • Moore, L. et al. (2005) Am. J. Hum. Genet., [e-pub.] "A Y-Chromosome Signature of Hegemony in Gaelic Ireland"
    download PDF <626 kb>
    [Study of Irish surnames of reputed common ancestry; establishment of Irish Modal Haplotype (IMH)]

  • McEvoy B. et al. (2006) Hum. Genet., DOI 10.1007/s00439-005-0131-8 "Y-chromosomes and the extent of patrilineal ancestry in Irish surnames"
    download PDF <399 kb>
    [Study of 43 Irish surname haplotypes]

  • McEvoy B. et al. (2008) Am. J. Phys. Anth., DOI 10.1102/ajpa.20823 "Genetic Investigation of the Patrilineal Kinship Structure of Early Medieval Ireland"
    download PDF <255 kb>
    [Study of Irish (Munster) surname haplotypes]

Technical papers on STR marker mutation rates

  • Heyer, E. et al. (1997) Human Molecular Genetics, 6, 5: 799-803 "Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees"
    download PDF <73 kb>
    [Established an average mutation rate of 0.20% per generation for DYS19 / 385 / 389-393, based on Canadian sample]

  • Brinkmann B. et al. (1998) Am. J. Hum. Genet., 62: 1408-1415 "Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat"
    download PDF <742 kb>
    [Higher marker mutation rates found for longer alleles and older fathers]

  • Kayser, M. et al. (2000) Am. J. Hum. Genet., 66: 1580-1588 "Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father / son pairs"
    download PDF <303 kb>
    [Established an average mutation rate of 0.317% per generation for DYS19 / 385 / 389-393, based on German and Polish samples, but the mutation rates for individual markers vary from zero to 0.858%]

  • Butler, J.M. et al. (2003) Elsevier I.G.C., 1261: 278-280 "Forensic value of the multicopy Y-STR marker DYS464*"
    download PDF <128 kb>
    [Reviewed the mutation rate of rapid DYS464(abcd)]

  • Zhivotovsky, L.A. et al. (2004) Am. J. Hum. Genet., 74: 50-61 "The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time"
    download PDF <146 kb>
    [Established an average mutation rate of 0.069% per 25 years for DYS19 / 388-393, based on Polynesian, Bulgarian Gypsy and sub-Saharan African samples]

  • Chandler, J.F. (2006) J. Genet. Gen., 2: 27-33 "Estimating Per-Locus Mutation Rates"
    download PDF <186 kb>
    [Reviewed the individual mutation rates of the FTDNA markers]

The following links provide further information to suit all levels. Don't forget to contact the team if you have any queries about any aspect of the project.

Theory (beginners) | Theory (intermediate)

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