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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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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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