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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

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 beta-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.[1]

References

  1. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Kingsmore, S.F., Giros, B., Suh, D., Bieniarz, M., Caron, M.G., Seldin, M.F. Nat. Genet. (1994) [Pubmed]
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