Human Genetics

, Volume 136, Issue 5, pp 559–573 | Cite as

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

  • Francesc Calafell
  • Maarten H. D. Larmuseau
Part of the following topical collections:
  1. Y-Chromosome


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.


Paternal Lineage Descent Group Genetic Genealogy False Paternity Paternal Ancestor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.

Compliance with ethical standards

Conflict of interest

The corresponding authors state that there is no conflict of interest.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Departament de Ciències Experimentals i de la Salut, Institute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBBUniversitat Pompeu FabraBarcelonaSpain
  2. 2.Forensic Biomedical Sciences, Department of Imaging & PathologyKU Leuven-Catholic University of LeuvenLeuvenBelgium
  3. 3.Laboratory of Socioecology and Social Evolution, Department of BiologyKU Leuven-Catholic University of LeuvenLeuvenBelgium

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