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

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

Research output: Contribution to journalArticle

180 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)136-142
Number of pages7
JournalNature Genetics
Volume7
Issue number2
DOIs
StatePublished - Jun 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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