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Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion

Nature Genetics volume 7, pages 136–142 (1994)Cite this article

Abstract

Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encoding the β–subunit of the glycine receptor (Glrb) underlie spa: Glrb maps to the same region of mouse chromosome 3 as spa, and Glrb mRNA is markedly reduced throughout brains of spa mice, most likely as a result of an insertional mutation of a 7.1 kilobase LINE–1 element within intron 6 of Glrb. These results provide evidence that Glrb is necessary for postsynaptic expression of glycine receptor complexes, and suggest Glrb as a candidate gene for inherited myoclonus in other species.

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Author notes

  1. Stephen F. Kingsmore

    Present address: University of Florida, PO Box 100221, Gainesville, Florida, 32610, USA

Authors and Affiliations

  1. Department of Medicine, Duke University Medical Center, Durham, North Carolina, 27710, USA

    Stephen F. Kingsmore, David Suh, Mark Bieniarz, Marc G. Caron & Michael F. Seldin

  2. Department of Cell Biology and Howard Hughes Medical Institute Laboratories, Duke University Medical Center, Durham, North Carolina, 27710, USA

    Bruno Giros & Marc G. Caron

  3. Department of Microbiology, Duke University Medical Center, Durham, North Carolina, 27710, USA

    Michael F. Seldin

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Kingsmore, S., Giros, B., Suh, D. et al. Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion. Nat Genet 7, 136–142 (1994). https://doi.org/10.1038/ng0694-136

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