Journal article
Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice
Human molecular genetics, Vol.4(6), pp.1055-1061
1995
DOI: 10.1093/hmg/4.6.1055
PMID: 7655459
Abstract
Murine dystrophia muscularis-2J (dy2J) is an autosomal recessive disorder characterized by muscular dystrophy and dysmyelination of peripheral nerve. Biochemical characterization of dy2J mice revealed the expression of a mutant laminin alpha 2 chain with a smaller molecular weight in the basal lamina of striated muscle and peripheral nerve. DNA sequencing of the alpha 2 chain cDNA amplified by RT-PCR from dy2J mice identified a novel and predominant transcript with a 171 base in-frame deletion. We also confirmed an underlying splice donor site mutation in the alpha 2 chain gene of the dy2J mouse. Translation of this variant transcript would result in the expression of a truncated alpha 2 chain having a 57 amino acid deletion (residues 34-90) and a substitution of Gln91Glu in the N-terminal domain VI, which is presumed to be involved in self-aggregation of laminin heterotrimers. Thus, the mutant alpha 2 chain could disrupt the formation of the laminin network and lead to muscle cell degeneration. Our results provide a molecular basis of muscular dystrophy and dysmyelination of peripheral nerve.
Details
- Title: Subtitle
- Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice
- Creators
- Yoshihide SunadaSuzanne M BernierAtsushi UtaniYoshihiko YamadaKevin P Campbell
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.4(6), pp.1055-1061
- DOI
- 10.1093/hmg/4.6.1055
- PMID
- 7655459
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Language
- English
- Date published
- 1995
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068276902771
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