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 language | English (US) |
---|---|
Pages (from-to) | 136-142 |
Number of pages | 7 |
Journal | Nature Genetics |
Volume | 7 |
Issue number | 2 |
DOIs | |
State | Published - Jun 1994 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics