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 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. / Kingsmore, Stephen F.; Giros, Bruno; Suh, David; Bieniarz, Mark; Caron, Marc G.; Seldin, Michael F.
In: Nature Genetics, Vol. 7, No. 2, 06.1994, p. 136-142.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion
AU - Kingsmore, Stephen F.
AU - Giros, Bruno
AU - Suh, David
AU - Bieniarz, Mark
AU - Caron, Marc G.
AU - Seldin, Michael F
PY - 1994/6
Y1 - 1994/6
N2 - 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.
AB - 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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U2 - 10.1038/ng0694-136
DO - 10.1038/ng0694-136
M3 - Article
C2 - 7920630
AN - SCOPUS:0028175530
VL - 7
SP - 136
EP - 142
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 2
ER -