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Article

A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.

The Journal of biological chemistry - 7 Sept 2012

Becker Kristina, Braune Marlen, Benderska Natalya, Buratti Emanuele, Baralle Francisco, Villmann Carmen, Stamm Stefan, Eulenburg Volker, Becker Cord-Michael

Abstract excerpt

The glycine receptor-deficient mutant mouse spastic carries a full-length long interspersed nuclear element (LINE1) retrotransposon in intron 6 of the glycine receptor β subunit gene, Glrb(spa). The mutation arose in the C57BL/6J strain and is associated with skipping of exon 6 or a combination of the exons 5 and 6, thus resulting in a translational frameshift within the coding regions of the GlyR β subunit. The...

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Identifiers

PMID: 22782896
DOI: 10.1074/jbc.M112.375691
PMCID: PMC3438950

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