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FSHD: A Subtelomere-Associated Disease

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Subtelomeres

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disorder caused by an unusual genetic mutation: the contraction of a macrosatellite repeat array on the chromosome 4 subtelomere. Due to the unusual location of this mutation, FSHD research has provided a wealth of data about the evolutionary history of this human telomere. In this chapter, we will cover both the early and the most recent disease models that have been proposed to explain the molecular pathogenesis of this disorder and highlight some of the most interesting genetic, epigenetic and evolutionary findings contributed by this field.

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Acknowledgments

We would like to thank the Muscular Dystrophy Campaign, UK, the Muscular Dystrophy Association, USA, and the FSH Society, USA, for past and present funding. We also thank the Muscular Dystrophy Campaign, UK, for funding A. L. with a Ph.D studentship.

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  1. Centre for Genetics and Genomics, Nottingham, UK

    Andreas Leidenroth & Jane E. Hewitt

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  1. Andreas Leidenroth
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  2. Jane E. Hewitt
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Correspondence to Jane E. Hewitt .

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  1. Department of Genetics, University of Leicester, Leicester, United Kingdom

    Edward J Louis

  2. Department of Genetics, University of Leicester, Leicester, United Kingdom

    Marion M Becker

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Leidenroth, A., Hewitt, J.E. (2014). FSHD: A Subtelomere-Associated Disease. In: Louis, E., Becker, M. (eds) Subtelomeres. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-41566-1_9

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