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The Y Chromosome

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Evolution of the Human Genome II

Part of the book series: Evolutionary Studies ((EVOLUS))

Abstract

Most of the length of the Y chromosome escapes recombination with the X chromosome and is strictly paternally inherited. This has profound evolutionary implications and provides (together with the matrilineal mitochondrial DNA) unique tools in human population genetics. Absence of recombination implies that a most parsimonious tree can be easily constructed from SNPs and other slowly mutating polymorphisms. The main branches of this tree, called haplogroups, have distinct geographic distributions and can be used to trace human migrations. Faster evolving polymorphisms, such as microsatellites provide readily time estimates for these migrations and other demographic events. Beyond sets of predefined polymorphism, sequencing of most of the non-recombining portion of the Y chromosome has yielded an accurate picture of the global evolution of this chromosome. Combining the Y chromosome with mitochondrial DNA has revealed sex-specific migrations, particularly in the Colonial period. Since surnames are also patrilineally inherited in many populations, the analysis of Y chromosome variation within surnames has shed light on the dynamics of surnames in populations, but has also contributed to the investigation of notorious lineages, such as the Columbus, Bourbons, and Draculs. However, it also raises the possibility of predicting a surname from an anonymous sample, which may be an important tool in forensic genetics but raises also privacy concerns for participants in genetic studies.

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Authors and Affiliations

  1. Institut de Biologia Evolutiva, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain

    Francesc Calafell

  2. Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Catalonia, Spain

    David Comas

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Correspondence to Francesc Calafell .

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  1. Department of Genomics and Evolutionary Biology, National Institute of Genetics, Mishima, Shizuoka, Japan

    Naruya Saitou

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Calafell, F., Comas, D. (2021). The Y Chromosome. In: Saitou, N. (eds) Evolution of the Human Genome II. Evolutionary Studies. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56904-6_5

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