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 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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Kingsmore SF,Giros B,Suh D,Bieniarz M,Caron MG,Seldin MFdoi
10.1038/ng0694-136subject
Has Abstractpub_date
1994-06-01 00:00:00pages
136-41issue
2eissn
1061-4036issn
1546-1718journal_volume
7pub_type
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