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Genes on X and Y Chromosomes

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Evolution of the Human Genome I

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

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Abstract

It is widely accepted that therian (placental and marsupial mammal) X and Y chromosomes were differentiated from a pair of autosomes by means of either chromosomal inversions or accumulation of linked sex-determining genes or both. This evolutionary process has been dynamic and involved stepwise differentiation of proto-sex chromosomes with leaving footprints of ancient pseudo-autosomal boundaries on the X chromosome and deterioration of gametologous genes on the Y chromosome without recombination. Genes or gene families on the X and Y chromosomes have been originated in three different ways: allelic pairs on the proto-sex chromosomes, retropositions, or translocations of autosomal genes. Gene duplication and conversion have also played important roles in the evolution of these genes particularly when they form palindromic structures. Because of the rapid evolution and unique structure of the therian X and Y chromosomes, there exist quite a few genes that are specific to humans. In this chapter, we overview our current knowledge about the origin and evolution of the therian sex chromosomes and genes and discuss future perspectives.

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Authors and Affiliations

  1. Department of Evolutionary Studies of Biosystems, The Graduate University for Advanced Studies (Sokendai), Hayama, Kanagawa, Japan

    Yoko Satta

  2. Center for Integration and Promotion of Sciences, The Graduate University for Advanced Studies (Sokendai), Hayama, Kanagawa, Japan

    Yoko Satta

  3. Department of Biology, Pennsylvania State University, University Park, PA, USA

    Yukako Katsura

  4. Department of Biology, Temple University, Philadelphia, PA, USA

    Yukako Katsura

  5. Center for Educational Research and Development, Shimane University, Matsue, Shimane, Japan

    Mineyo Iwase

Authors
  1. Yoko Satta
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  2. Yukako Katsura
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  3. Mineyo Iwase
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Correspondence to Yoko Satta .

Editor information

Editors and Affiliations

  1. Division of Population Genetics, National Institute of Genetics, Mishima, Japan

    Naruya Saitou

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Satta, Y., Katsura, Y., Iwase, M. (2017). Genes on X and Y Chromosomes. In: Saitou, N. (eds) Evolution of the Human Genome I. Evolutionary Studies. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56603-8_8

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