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

• Published in: Human genetics Vol. 136; no. 5; pp. 559 - 573
• Main Authors: Calafell, Francesc, Larmuseau, Maarten H. D.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.05.2017; Springer; Springer Nature B.V
• Subjects: Anthropology; Biomedical and Life Sciences; Biomedicine; Chromosomes; Chromosomes, Human, Y - genetics; Demography; Deoxyribonucleic acid; Descent group; DNA; DNA, Mitochondrial; Evolution, Molecular; False paternity; Forensic sciences; Gene Function; Genealogy; Genealogy and Heraldry; Genetic genealogy; Genetic Markers; Genetic research; Genetics, Population; Human Genetics; Humans; Interdisciplinary aspects; Interdisciplinary research; Male; Metabolic Diseases; Mitochondrial DNA; Molecular Medicine; Names; Paternal ancestor; Paternal lineage; Pedigree; Popularity; Population genetics; Review; Y-Chromosome; Paternal Lineage; False Paternity; Genetic Genealogy; Descent Group; Paternal Ancestor
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-016-1740-0

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.