Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human
Copyright policy )Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human
The mouse gene encodes for an mRNA of similar size as the human CANP3 mRNA, directing the synthesis of an 821 amino acids-long protein. The result obtained on somatic cell hybrid panel indicates either a localization on mouse Chr 2 or on Chr 4. Information of synteny conservation with human supports the Chr 2 localization. The fact that isolated murine YACs amplified a TYRO3 STS, which on the human genome maps in the vicinity of CANP3, suggests that its murine homolog also maps adjacent to canp3. Interspecies comparison of the canp3 DNA sequences shows a high level of identity at the DNA and amino acid levels. The degree of similarity is indicative of the fundamental biological role of this protein. Together with the rat, pig, and cow sequences, the mouse sequence would be useful to assess missense mutations in LGMD2A patients. As a matter of fact, all the missense mutations described in LGMD2A patients (Richard et al. 1995) correspond to canp3 conserved amino acids.
- Fondation Jean Dausset-CEPH France
Chromosomes, Human, Pair 15, Base Sequence, Sequence Homology, Amino Acid, Calpain, Protein Conformation, RNA Splicing, Molecular Sequence Data, Muscle Proteins, Gene Expression Regulation, Enzymologic, Muscular Dystrophies, Isoenzymes, Open Reading Frames, Gene Targeting, Humans, Amino Acid Sequence, Cloning, Molecular, Sequence Alignment
Chromosomes, Human, Pair 15, Base Sequence, Sequence Homology, Amino Acid, Calpain, Protein Conformation, RNA Splicing, Molecular Sequence Data, Muscle Proteins, Gene Expression Regulation, Enzymologic, Muscular Dystrophies, Isoenzymes, Open Reading Frames, Gene Targeting, Humans, Amino Acid Sequence, Cloning, Molecular, Sequence Alignment
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