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The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research

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Abstract

The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages. The current knowledge about the Y chromosome and the availability of markers with divergent mutation rates make it possible to answer questions on relatedness levels which differ in time depth; from the individual and familial level to the surnames, clan and population level. The use of the Y chromosome in genetic genealogy has led to applications in several well-established research disciplines; namely in, e.g., family history, demography, anthropology, forensic sciences, population genetics and sex chromosome evolution. The information obtained from analysing this chromosome is not only interesting for academic scientists but also for the huge and lively community of amateur genealogists and citizen-scientists, fascinated in analysing their own genealogy or surname. This popularity, however, has also some drawbacks, mainly for privacy reasons related to the DNA donor, his close family and far-related namesakes. In this review paper we argue why Y-chromosomal analysis and its genetic genealogical applications will still perform an important role in future interdisciplinary research.

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References

  • Al-Khudhair A et al (2015) Inference of distant genetic relations in humans using “1000 genomes”. Genome Biol Evol 7:481–492

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Athey WT (2005) Haplogroup prediction from Y-STR values using an allele-frequency approach. J Genet Geneal 1:1–7

    Google Scholar 

  • Athey WT (2006) Haplogroup prediction from Y-STR values using a Bayesian-allele-frequency approach. J Genet Geneal 2:34–39

    Google Scholar 

  • Baeta M, Nunez C, Cardoso S, Palencia-Madrid L, Herrasti L, Etxeberria F, de Pancorbo MM (2015) Digging up the recent Spanish memory: genetic identification of human remains from mass graves of the Spanish Civil War and posterior dictatorship. Forensic Sci Int Genet 19:272–279

    Article  CAS  PubMed  Google Scholar 

  • Balaresque P et al (2009) Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications. Int J Legal Med 123:15–23

    Article  PubMed  Google Scholar 

  • Balaresque P, Poulet N, Cussat-Blanc S, Gerard P, Quintana-Murci L, Heyer E, Jobling MA (2015) Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations. Eur J Hum Genet 23:1413–1422

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ballantyne KN et al (2010) Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet 87:341–353

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ballantyne KN et al (2012) A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet 6:208–218

    Article  CAS  PubMed  Google Scholar 

  • Ballantyne KN et al (2014) Towards complete male individualization with rapidly mutating Y-chromosomal STRs. Hum Mutat 35:1021–1032

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Balloux F (2010) The worm in the fruit of the mitochondrial DNA tree. Heredity 104:419–420

    Article  CAS  PubMed  Google Scholar 

  • Bingham J (2016) Accountant wins legal claim to baronetcy in ‘cuckoo in the nest’ case that could challenge the British class system. Telegraph Media Group, London

    Google Scholar 

  • Bloothooft G, Schraagen MP (2015) Learning name variants from inexact high-confidence matches. In: Bloothooft G, Christen P, Mandemakers K, Schraagen M (eds) Population reconstruction. Springer, New York, pp 61–83

    Chapter  Google Scholar 

  • Boattini A et al (2015) Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees. Heredity 114:155–162

    Article  CAS  PubMed  Google Scholar 

  • Bolund E, Hayward A, Pettay JE, Lummaa V (2015) Effects of the demographic transition on the genetic variances and covariances of human life-history traits. Evolution 69:747–755

    Article  PubMed  Google Scholar 

  • Borry P, Rusu O, Howard HC (2013) Genetic testing: anonymity of sperm donors under threat. Nature 496:169

    Article  CAS  PubMed  Google Scholar 

  • Borry P, Rusu O, Dondorp W, De Wert G, Knoppers BM, Howard HC (2014) Anonymity 2.0: direct-to-consumer genetic testing and donor conception. Fertil Steril 101:630–632

    Article  PubMed  Google Scholar 

  • Bosch E et al (1999) Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome. Am J Hum Genet 65:1623–1638

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bowden GR et al (2008) Excavating past population structures by surname-based sampling: the genetic legacy of the Vikings in northwest England. Mol Biol Evol 25:301–309

    Article  CAS  PubMed  Google Scholar 

  • Brown K (2002) Tangled roots? Genetics meets genealogy. Science 295:1634–1635

    Article  CAS  PubMed  Google Scholar 

  • Butler JM (2015) The future of forensic DNA analysis. Philos Trans R Soc B-Biol Sci 370:20140252

    Article  CAS  Google Scholar 

  • Byrnes JK, Myers NM, Underhill PA (2014) Genetic genealogy in the Genomics Era. In: Primorac D, Schanfield M (eds) Forensic DNA application—an interdisciplinary perspective. CRC Press, Boca Raton, pp 483–508

    Chapter  Google Scholar 

  • Calderon R, Hernandez CL, Cuesta P, Dugoujon JM (2015) Surnames and Y-chromosomal markers reveal low relationships in Southern Spain. PLoS One 10:e0123098

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Chaix R, Austerlitz F, Khegay T, Jacquesson S, Hammer M, Heyer E, Quintana-Murci L (2004) The genetic or mythical ancestry of descent groups: lessons from the Y chromosome. Am J Hum Genet 75:1113–1116

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chaix R, Quintana-Murci L, Khegay T, Hammer M, Mobasher Z, Austerlitz F, Heyer E (2007) From social to genetic structures in Central Asia. Curr Biol 17:43–48

    Article  CAS  PubMed  Google Scholar 

  • Charlier P et al (2013) Genetic comparison of the head of Henri IV and the presumptive blood from Louis XVI (both Kings of France). Forensic Sci Int Genet 226:38–40

    Article  CAS  Google Scholar 

  • Chikhi L (2009) Update to Chikhi et al.’s “Clinal variation in the nuclear DNA of Europeans” (1998): genetic data and storytelling—from archaeogenetics to astrologenetics? Hum Biol 81:639–643

    Article  PubMed  Google Scholar 

  • Colantonio SE, Lasker GW, Kaplan BA, Fuster V (2003) Use of surname models in human population biology: a review of recent developments. Hum Biol 75:785–807

    Article  PubMed  Google Scholar 

  • de Rooij M, M’Charek A (2015) Binnen no time in de Middeleeuwen. Sociol Mag 2016:22–24

    Google Scholar 

  • Dongying W, Sucan M, Ming L, Shangzhi H, Chunyun L (2000) Application of Y-chromosome polymorphisms to studying the kinship of the males with family name Wang from Han nationality. Acta Anthropol Sinica 19:132–137

    Google Scholar 

  • Engber D (2013) Who’s your daddy? The perils of personal genomics, 21 May 2013 edn. http://www.slate.com/articles/health_and_science/science/2013/05/paternity_testing_personal_genomics_companies_will_reveal_dna_secrets.htm. Accessed 23 Oct 2016

  • Erlich Y, Narayanan A (2014) Routes for breaching and protecting genetic privacy. Nat Rev Genet 15:409–421

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Foster EA et al (1998) Jefferson fathered slave’s last child. Nature 396:27–28

    Article  CAS  PubMed  Google Scholar 

  • Gillis JR (1985) For better, for worse—British marriages, 1600 to the present. Oxford University Press, New York

    Google Scholar 

  • Greeff JM, Erasmus JC (2015) Three hundred years of low non-paternity in a human population. Heredity 115:396–404

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Greeff JM, Greeff FA, Greeff AS, Rinken L, Welgemoed DJ, Harris Y (2012) Low nonpaternity rate in an old Afrikaner family. Evol Hum Behav 33:268–273

    Article  Google Scholar 

  • Gymrek M, McGuire AL, Golan D, Halperin E, Erlich Y (2013) Identifying personal genomes by surname inference. Science 339:321–324

    Article  CAS  PubMed  Google Scholar 

  • Haas C et al (2013) Y-chromosomal analysis identifies the skeletal remains of Swiss national hero Jörg Jenatsch (1596–1639). Forensic Sci Int Genet 7:610–617

    Article  CAS  PubMed  Google Scholar 

  • Hammer M et al (2009) Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood. Hum Genet 126:707–717

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Harper JC, Kennett D, Reisel D (2016) The end of donor anonymity: how genetic testing is likely to drive anonymous gamete donation out of business. Hum Reprod 31:1135–1140

    Article  PubMed  Google Scholar 

  • Harris DJ et al (2016) Does contraceptive use lead to increased affairs? A reply to Larmuseau et al. 2016. Trends Ecol Evol 31:663

    Article  PubMed  Google Scholar 

  • Hayward AD, Lummaa V, Bazykin GA (2015) Fitness consequences of advanced ancestral age over three generations in humans. PLoS One 10:e0128197

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Helgason A, Hrafnkelsson B, Gulcher JR, Ward R, Stefansson K (2003) A population wide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes. Am J Hum Genet 72:1370–1388

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Helgason A et al (2015) The Y-chromosome point mutation rate in humans. Nat Genet 47:453–457

    Article  CAS  PubMed  Google Scholar 

  • Huff CD et al (2011) Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res 21:768–774

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hughes JF, Page DC (2015) The biology and evolution of mammalian Y chromosomes. Annu Rev Genet 49:22.21

    Article  CAS  Google Scholar 

  • Hughes JF, Page DC (2016) The history of the Y chromosome in man. Nat Genet 48:588–589

    Article  CAS  PubMed  Google Scholar 

  • Jehaes E et al (1998) Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette. Eur J Hum Genet 6:383–395

    Article  CAS  PubMed  Google Scholar 

  • Jehaes E, Pfeiffer H, Toprak K, Decorte R, Brinkmann B, Cassiman JJ (2001) Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette. Eur J Hum Genet 9:185–190

    Article  CAS  PubMed  Google Scholar 

  • Jobling MA (2001) In the name of the father: surnames and genetics. Trends Genet TIG 17:353–357

    Article  CAS  PubMed  Google Scholar 

  • Jobling MA (2008) Copy number variation on the human Y chromosome. Cytogenet Gen Res 123:1–4

    Google Scholar 

  • Jobling MA (2012) The impact of recent events on human genetic diversity. Philos Trans R Soc B Biol Sci 367:793–799

    Article  CAS  Google Scholar 

  • Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612

    Article  CAS  PubMed  Google Scholar 

  • Jobling MA, Hollox E, Hurles ME, Kivisild T, Tyler-Smith C (2013) Human Evolutionary Genetics. Garland Science Publishing, London/New York

    Google Scholar 

  • Jobling MA, Rasteiro R, Wetton JH (2016) In the blood: the myth and reality of genetic markers of identity. Ethnic Racial Stud 39:142–161

    Article  Google Scholar 

  • Johansson MM, Van Geystelen A, Larmuseau MHD, Djurovic S, Andreassen OA, Agartz I, Jazin E (2015) Microarray analysis of copy number variants on the human Y chromosome reveals novel and frequent duplications overrepresented in specific haplogroups. PLoS One 10:e0137223

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kayser M, Ballantyne KN (2014) Y chromosome in forensic science. In: Primorac D, Shanfield M (eds) Forensic DNA applications: an interdisciplinary perspective. CRC Press Taylor & Francis Group, New York

    Google Scholar 

  • King TE, Jobling MA (2009a) Founders, drift, and infidelity: the relationship between Y chromosome diversity and patrilineal surnames. Mol Biol Evol 26:1093–1102

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • King TE, Jobling MA (2009b) What’s in a name? Y chromosomes, surnames and the genetic genealogy revolution. Trends Genet 25:351–360

    Article  CAS  PubMed  Google Scholar 

  • King TE, Bosch E, Adams SM, Parkin E, Rosser ZH, Jobling MA (2005) Inadvertent diagnosis of male infertility through genealogical DNA testing. J Med Genet 42:366–368

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • King TE, Ballereau SJ, Schürer KE, Jobling MA (2006) Genetic signatures of coancestry within surnames. Curr Biol 16:384–388

    Article  CAS  PubMed  Google Scholar 

  • King TE et al (2014) Identification of the remains of King Richard III. Nature commun 5:5631

    Article  CAS  Google Scholar 

  • Kottak CP (2002) Cultural anthropology. Ninth edition. Mc Graw Hill, New York

    Google Scholar 

  • Lalueza-Fox C, Gigli E, Bini C, Calafell F, Luiselli D, Pelotti S, Pettener D (2011) Genetic analysis of the presumptive blood from Louis XVI, king of France. Forensic Sci Int Genet 5:459–463

    Article  CAS  PubMed  Google Scholar 

  • Lareu MV, Garcia-Magarinos M, Phillips C, Quintela I, Carracedo A, Salas A (2012) Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data. Forensic sci int Genet 6:350–353

    Article  CAS  PubMed  Google Scholar 

  • Larmuseau MHD, Ottoni C, Raeymaekers JAM, Vanderheyden N, Larmuseau HFM, Decorte R (2012a) Temporal differentiation across a West-European Y-chromosomal cline—genealogy as a tool in human population genetics. Eur J Hum Genet 20:434–440

    Article  CAS  PubMed  Google Scholar 

  • Larmuseau MHD, Vanoverbeke J, Gielis G, Vanderheyden N, Larmuseau HFM, Decorte R (2012b) In the name of the migrant father—analysis of surname origin identifies historic admixture events undetectable from genealogical records. Heredity 109:90–95

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Larmuseau MHD, Van Geystelen A, van Oven M, Decorte R (2013a) Genetic genealogy comes of age—perspectives on the use of deep-rooted pedigrees in human population genetics. Am J Phys Anthropol 150:505–511

    Article  CAS  PubMed  Google Scholar 

  • Larmuseau MHD et al (2013b) Low historical rates of cuckoldry in a Western European human population traced by Y-chromosome and genealogical data. Proc R Soc B 280:20132400

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Larmuseau MHD et al (2014a) Genetic genealogy reveals true Y halogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings. Eur J Hum Genet 22:681–687

    Article  CAS  PubMed  Google Scholar 

  • Larmuseau MHD, Vanderheyden N, Van Geystelen A, van Oven M, de Knijff P, Decorte R (2014b) Recent radiation within Y-chromosomal haplogroup R-M269 resulted in high Y-STR haplotype resemblance. Ann Hum Genet 78:92–103

    Article  CAS  PubMed  Google Scholar 

  • Larmuseau MHD, Vanderheyden N, Van Geystelen A, van Oven M, Kayser M, Decorte R (2014c) Increasing phylogenetic resolution still informative for Y chromosomal studies on West-European populations. Forensic Sci Int Genet 9:179–185

    Article  CAS  PubMed  Google Scholar 

  • Larmuseau MHD et al (2015) High Y chromosomal diversity and low relatedness between paternal lineages on a communal scale in the Western European low countries during the surname establishment. Heredity 115:3–12

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Larmuseau MHD, Bekaert B, Baumers M, Wenseleers T, Deforce D, Borry P, Decorte R (2016a) Biohistorical materials and contemporary privacy concerns—the forensic case of King Albert I. FSI. Genetics 24:202–210

    CAS  PubMed  Google Scholar 

  • Larmuseau MHD, Matthijs K, Wenseleers T (2016b) Cuckolded fathers rare in human populations. Trends Ecol Evol 31:327–329

    Article  PubMed  Google Scholar 

  • Larmuseau MHD, Matthijs K, Wenseleers T (2016c) Long-term trends in human extra-pair paternity: increased infidelity or adaptive strategy? A reply to Harris (2016). Trends Ecol Evol 31:663–665

    Article  CAS  PubMed  Google Scholar 

  • Laslett P, Oosterveen K, Smith RM (1980) Bastardy and its comparative history: studies in the history of illegitimacy and marital nonconformism in Britain, France, Germany, Sweden, North America, Jamaica, and Japan. Harvard University Press, Cambridge

    Google Scholar 

  • Lauwerier R (2012) De oude bewoners van Oldenzaal. Tijdschr van de Rijksd voor het Cult Erfgoed 3:10–11

    Google Scholar 

  • Lehmann-Haupt R (2010) Are sperm donors really anonymous anymore? Slate. http://www.slate.com/articles/double_x/doublex/2010/02/are_sperm_donors_really_anonymous_anymore.html. Accessed 23 Oct 2016

  • Li H et al (2014) Relationship estimation from whole-genome sequence data. PLoS Genet 10:e1004144

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Marks SJ, Levy H, Martinez-Cadenas C, Montinaro F, Capelli C (2012) Migration distance rather than migration rate explains genetic diversity in human patrilocal groups. Mol Ecol 21:4958–4969

    Article  PubMed  Google Scholar 

  • Marlowe FW (2000) Paternal investment and the human mating system. Behav Process 51:45–61

    Article  CAS  Google Scholar 

  • Martinez-Cadenas C et al (2016) The relationship between surname frequency and Y chromosome variation in Spain. Eur J Hum Genet 24:120–128

    Article  PubMed  Google Scholar 

  • Martinez-Cruz B et al (2012) Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings. PLoS One 7:e41803

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Martinez-Gonzalez LJ et al (2012) Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo. Eur J Hum Genet 20:211–216

    Article  PubMed  Google Scholar 

  • McEvoy B, Bradley DG (2006) Y-chromosomes and the extent of patrilineal ancestry in Irish surnames. Hum Genet 119:212–219

    Article  PubMed  Google Scholar 

  • McEvoy B, Simms K, Bradley DG (2008) Genetic investigation of the patrilineal kinship structure of early medieval Ireland. Am J Phys Anthropol 136:415–422

    Article  PubMed  Google Scholar 

  • Meates S (2006) How a DNA Project has produced discoveries in the Meates One-Name Study not possible with paper records alone. J One Name Stud 6:6–10

    Google Scholar 

  • Mendez FL et al (2013) An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree. Am J Hum Genet 92:637

    Article  CAS  PubMed Central  Google Scholar 

  • Mensah MA et al (2014) Pseudoautosomal region 1 length polymorphism in the human population. PLoS Genet 10:e1004578

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Moore LT, McEvoy B, Cape E, Simms K, Bradley DG (2006) A Y-chromosome signature of hegemony in Gaelic Ireland. Am J Hum Genet 78:334–338

    Article  CAS  PubMed  Google Scholar 

  • Motluk A (2005) Anonymous sperm donor traced on internet. New Sci 2524:6

    Google Scholar 

  • Myres NM, Ekins JE, Lin AA, Cavalli-Sforza LL, Woodward SR, Underhill PA (2007) Y-chromosome short tandem repeat DYS458.2 non-consensus alleles occur independently in both binary haplogroups J1-M267 and R1b3-M405. Croat Med J 48:450–459

    CAS  PubMed  PubMed Central  Google Scholar 

  • Niederstätter H et al (2012) Pasture names with Romance and Slavic roots facilitate dissection of Y chromosome variation in an exclusively German-speaking Alpine region. PLoS One 7:e41885

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Nielsen R, Beaumont MA (2009) Statistical inferences in phylogeography. Mol Ecol 18:1034–1047

    Article  CAS  PubMed  Google Scholar 

  • Olalde I et al (2014) Genomic analysis of the blood attributed to Louis XVI (1754-1793), King of France. Sci Rep 4:4666

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Ossowski A, Kus M, Kupiec T, Bykowska M, Zielinska G, Jasinski ME, March AL (2016) The Polish genetic database of victims of totalitarianisms. Forensic Sci Int 258:41–49

    Article  CAS  PubMed  Google Scholar 

  • Pajnic IZ, Pogorelc BG, Balazic J (2010) Molecular genetic identification of skeletal remains from the Second World War Konfin I mass grave in Slovenia. Int J Legal Med 124:307–317

    Article  Google Scholar 

  • Phillips AD (2016) Only a click away—DTC genetics for ancestry, health, love…and more: a view of the business and regulatory landscape’. Appl Trans Genom 8:16–22

    Google Scholar 

  • Pickrell JK, Reich D (2014) Toward a new history and geography of human genes informed by ancient DNA. Trends Genet 30:377–389

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Plant J (2005) Modern methods and a controversial surname: plant. Nomina 28:115–133

    Google Scholar 

  • Plant J (2007) The tardy adoption of the Plantagenet surname. Nomina 30:57–84

    Google Scholar 

  • Pomery C (2010a) The advantages of a dual DNA/documentary approach to reconstruct the family trees of a surname. J Genet Geneal 5:85–95

    Google Scholar 

  • Pomery C (2010b) Defining a methodology to reconstruct the family trees of a surname within a DNA/documentary dual approach project. J Genet Geneal 6:1–21

    Google Scholar 

  • Poznik GD et al (2016) Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nat Genet 48:593–599

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Purps J et al (2014) A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Sci Int Genet 12:12–23

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Quintana-Murci L, Fellous M (2001) The Human Y Chromosome: the Biological Role of a “Functional Wasteland”. J Biomed Biotechnol 1:18–24

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rabb TK, Rotberg RI (1971) The family in history—interdisciplinary essays. Harper Torchbooks, New York

    Google Scholar 

  • Ralph P, Coop G (2013) The geography of recent genetic ancestry across Europe. PLoS Biol 11:e1001555

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Redmonds G, King T, Hey D (2011) Surnames, DNA, & family history. Oxford University Press, Oxford

    Google Scholar 

  • Rocca RA, Magoon G, Reynolds DF, Krahn T, Tilroe VO, Boots PMO, Grierson AJ (2012) Discovery of Western European R1b1a2 Y chromosome variants in 1000 Genomes project data: an online community approach. PLoS One 7:e41634

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rodriguez G (2014) How genealogy became almost as popular as porn. IPC Media. http://time.com/133811/how-genealogy-became-almost-as-popular-as-porn/. Accessed 23 Oct 2016

  • Roewer L, Geppert M, Purps J, Willuweit S (2014) Das Y-Chromosom als forensischer und genealogischer marker. BIOspektrum 20:627–630

    Article  CAS  Google Scholar 

  • Rohde DLT, Olson S, Chang JT (2004) Modelling the recent common ancestry of all living humans. Nature 431:562–566

    Article  CAS  PubMed  Google Scholar 

  • Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG (2010) Inferring genetic ancestry: opportunities, challenges, and implications. Am J Hum Genet 86:661–673

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sanchez-Faddeev H et al (2013) Ancestral stories of Ghanaian Bimoba reflect millenia-old genetic lineages. PLoS One 8:e65690

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schiffels S et al (2016) Iron Age and Anglo-Saxon genomes from East England reveal British migration history. Nat Commun 7:10408

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Schlecht J, Kaplan ME, Barnard K, Karafet T, Hammer MF, Merchant NC (2008) Machine-learning approaches for classifying haplogroup from Y chromosome STR data. PLoS Comput Biol 4:e1000093

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Scully JL (2014) Naming the dead: DNA-based identification of historical remains as an act of care. New Genet Soc 33:313–332

    Article  Google Scholar 

  • Sear R (2016) Beyond the nuclear family: an evolutionary perspective on parenting. Curr Opin Psychol 7:98–103

    Article  Google Scholar 

  • Shriver MD, Kittles RA (2004) Genetic ancestry and the search for personalized genetic histories. Nat Rev Genet 5:U611–U613

    Article  CAS  Google Scholar 

  • Sims LM, Garvey D, Ballantyne J (2009) Improved resolution haplogroup G phylogeny in the Y-chromosome, revealed by a set of newly characterized SNPs. PLoS One 4:e5792

    Article  PubMed  PubMed Central  Google Scholar 

  • Skorecki K et al (1997) Y chromosomes of Jewish priests. Nature 385:32

    Article  CAS  PubMed  Google Scholar 

  • Solé-Morata N, Bertranpetit J, Comas D, Calafell F (2014) Recent radiation of R-M269 and high Y-STR haplotype resemblance confirmed. Ann Hum Genet 78:253–254

    Article  PubMed  CAS  Google Scholar 

  • Solé-Morata N, Bertranpetit J, Comas D, Calafell F (2015) Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency. Eur J Hum Genet 23:1549–1557

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Speed D, Balding DJ (2015) Relatedness in the post-genomic era: is it still useful? Nat Rev Genet 16:33–44

    Article  CAS  PubMed  Google Scholar 

  • Strassmann BI, Kurapati NT (2016) What explains patrilineal cooperation. Curr Anthropol 57:S118–S130

    Article  Google Scholar 

  • Strassmann BI, Kurapati NT, Hug BF, Burke EE, Gillespie BW, Karafet TM, Hammer MF (2012) Religion as a means to assure paternity. Proc Natl Acad Sci USA 109:9781–9785

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Swift C (2013) Interlaced scholarship: genealogies and genetics in twenty-first-century Ireland. In: Duffy S (ed) Princes, prelates and poets in Medieval Ireland. Four Courts Press, Dublin, pp 19–31

    Google Scholar 

  • Sykes B, Irven C (2000) Surnames and the Y chromosome. Am J Hum Genet 66:1417–1419

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Thomas MG (2013) To claim someone has ‘Viking ancestors’ is no better than astrology. Guardian News and Media, London

    Google Scholar 

  • Tofanelli S, Taglioli L, Bertoncini S, Francalacci P, Klyosov A, Pagani L (2014) Mitochondrial and Y chromosome haplotype motifs as diagnostic markers of Jewish ancestry: a reconsideration. Frontiers Genet 5:384

    Article  CAS  Google Scholar 

  • Trombetta B, Cruciani F, Underhill PA, Sellitto D, Scozzari R (2010) Footprints of X-to-Y gene conversion in recent human evolution. Mol Biol Evol 27:714–725

    Article  CAS  PubMed  Google Scholar 

  • Underhill PA, Kivisild T (2007) Use of Y chromosome and mitochondrial DNA population structure in tracing human migrations. Annu Rev Genet 41:539–564

    Article  CAS  PubMed  Google Scholar 

  • Van Geystelen A, Wenseleers T, Decorte R, Caspers M, Larmuseau MHD (2014) In silico detection of phylogenetic informative Y-chromosomal SNPs from WGS data. Electrophoresis 35:3102–3110

    Article  CAS  PubMed  Google Scholar 

  • van Oven M, Kayser M (2008) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30:E386–E394

    Article  Google Scholar 

  • van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau MHD (2014) Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome. Hum Mutat 35:187–191

    Article  PubMed  CAS  Google Scholar 

  • Wagner JK, Cooper JD, Sterling R, Royal CD (2012) Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests. Genet Med 14:586–593

    Article  CAS  PubMed  Google Scholar 

  • Wallace SE, Gourna EG, Nikolova V, Sheehan NA (2015) Family tree and ancestry inference: is there a need for a ‘generational’ consent? BMC Med Eth 16:87

    Article  Google Scholar 

  • Walsh B (2001) Estimating the time to the most recent common ancestor for the Y chromosome or mitochondrial DNA for a pair of individuals. Genetics 158:897–912

    CAS  PubMed  PubMed Central  Google Scholar 

  • Wang CC et al (2012) Present Y chromosomes reveal the ancestry of Emperor CAO Cao of 1800 years ago. J Hum Genet 57:216–218

    Article  CAS  PubMed  Google Scholar 

  • Wang CC et al (2013) Ancient DNA of Emperor CAO Cao’s granduncle matches those of his present descendants: a commentary on present Y chromosomes reveal the ancestry of Emperor CAO Cao of 1800 years ago. J Hum Genet 58:238–239

    Article  CAS  PubMed  Google Scholar 

  • Wilkins JF (2006) Unraveling male and female histories from human genetic data. Curr Opin Genet Dev 16:611–617

    Article  CAS  PubMed  Google Scholar 

  • Willems T, Gymrek M, Poznik GD, Tyler-Smith C, Erlich Y (2016) Population-scale sequencing data enable precise estimates of Y-STR mutation rates. Am J Hum Genet 98:919–933

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Williams SR (2005) Genetic genealogy: the Woodson family’s experience. Cult Med Psychiatry 29:225–252

    Article  PubMed  Google Scholar 

  • Xue Y et al (2005) Recent spread of a Y-chromosomal lineage in northern China and Mongolia. Am J Hum Genet 77:1112–1116

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zarembo A (2009) DNA can reveal ancestors’ lies and secrets, 18 January 2009 edn., Los Angeles. http://articles.latimes.com/2009/jan/18/local/me-dnasurprise18. Accessed 23 Oct 2016

  • Zerjal T et al (2003) The genetic legacy of the Mongols. Am J Hum Genet 72:717–721

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zerubavel E (2012) Ancestors and Relatives: Genealogy, Identity, and Community. Oxford University Press, New York

    Google Scholar 

Download references

Acknowledgements

MHDL is a postdoctoral fellow of the FWO–Vlaanderen (Research Foundation—Flanders). This study is part of the KU Leuven BOF C1-project C12/15/013, the KU Leuven BOF-GOA grant 3H130264, and the Fund for Scientific Research—Flanders Grant 1503216N. FC is supported in part by Agència de Gestió d’Ajuts Universitaris i de la Recerca (Generalitat de Catalunya) Grant 2014SGR866. We thank two anonymous referees and Neus Solé-Morata (Institut de Biologia Evolutiva, Barcelona), Anke Peeters and Michiel Vandenbosch (KU Leuven) for reading a previous version of the manuscript and helping improve it.

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Authors and Affiliations

  1. Departament de Ciències Experimentals i de la Salut, Institute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBB, Universitat Pompeu Fabra, Doctor Aiguader 88, 08005, Barcelona, Catalonia, Spain

    Francesc Calafell

  2. Forensic Biomedical Sciences, Department of Imaging & Pathology, KU Leuven-Catholic University of Leuven, Kapucijnenvoer 33, Leuven, B-3000, Belgium

    Maarten H. D. Larmuseau

  3. Laboratory of Socioecology and Social Evolution, Department of Biology, KU Leuven-Catholic University of Leuven, Naamsestraat 59, Leuven, B-3000, Belgium

    Maarten H. D. Larmuseau

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  1. Francesc Calafell
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Correspondence to Francesc Calafell or Maarten H. D. Larmuseau.

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Calafell, F., Larmuseau, M.H.D. The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research. Hum Genet 136, 559–573 (2017). https://doi.org/10.1007/s00439-016-1740-0

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