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Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

Nature Genetics volume 6, pages 409–414 (1994)Cite this article

An Erratum to this article was published on 01 May 1994

Abstract

Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat. We have analysed the CAG expansion in different tissues from 12 affected individuals. All tissues examined were found to display some repeat mosaicism, with the greatest levels detected in brain and sperm. Regions within the brain showing most obvious neuropathology, such as the basal ganglia and the cerebral cortex, displayed the greatest mosaicism, whereas the cerebellar cortex, which is seldom involved, displayed the lowest degree of CAG instability. In two cases of childhood onset disease we detected differences of 8 and 13 trinucleotides between the cerebellum and other regions of the brain. Our results provide evidence for tissue specific instability of the CAG repeat, with the largest CAG repeat lengths in affected regions of the brain.

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Authors and Affiliations

  1. Department of Medical Genetics, University of British Columbia, 416-2125 East Mall, Vancouver, British Columbia, V6T1Z4, Canada

    Håkan Telenius, Berry Kremer, Y. Paul Goldberg, Jane Theilmann, Susan E. Andrew, Jutta Zeisler, Shelin Adam, Lorne A. Clarke & Michael R. Hayden

  2. Health Sciences Centre, Section of Genetics and Metabolism, Children's Hospital, 840 Sherbrook Street, FE 231, Winnipeg, Manitoba, R3A 1S1, Canada

    Cheryl Greenberg

  3. Memorial University of Newfoundland, Division of Community Medicine, Faculty of Medicine, The Health Sciences Centre, St. John's, Newfoundland, A1B3V6, Canada

    Elizabeth J. Ives

Authors
  1. Håkan Telenius
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  2. Berry Kremer
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  11. Michael R. Hayden
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Telenius, H., Kremer, B., Goldberg, Y. et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 6, 409–414 (1994). https://doi.org/10.1038/ng0494-409

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  • DOI: https://doi.org/10.1038/ng0494-409

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