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AssigneeUniversity of Iowa Research Foundation
InventorsKevin P. Campbell, Leland Lim, Franck Duclos, Yoshihide Sunada, Jacques S. Beckmann, Odile Broux, Fernando M. S. Tome, Michel Fardeau, Charles E. Jackson
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Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component (.beta.-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are immunogenic peptides which, when used to immunize a mammal, stimulate the production of antibodies which bind specifically to the .beta.-sarcoglycan. Mutations in the .beta.-sarcoglycan gene which are associated with autosomal recessive limb-girdle muscular dystrophy are also disclosed. The identification of such mutations enables the design of nucleic acid probes which hybridize specifically to a mutant form of .beta.-sarcoglycan, or the complement thereof, but not to the DNA of the wild-type form of the gene (or the complement thereof), under stringent hybridization conditions. Such probes are useful, for example, in connection with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. In addition, the identification of such mutations enables the diagnosis of autosomal recessive limb-girdle muscular dystrophy through the use of direct DNA sequencing techniques.
A substantially pure nucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component of the dystrophin-glycoprotein complex which is characterized by the ability to hybridize to the DNA sequence of SEQ ID NO:1, or the fully complementary sequence thereof, under stringent hybridization conditions.
A DNA expression construct comprising, in expressible form, a substantially pure deoxyribonucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component of the dystrophin-glycoprotein complex which is characterized by the ability to hybridize to the DNA sequence of SEQ ID NO:1, or the fully complementary sequence thereof, under stringent hybridization conditions.
A prokaryotic cell transformed with a DNA expression construct comprising, in expressible form, a substantially pure deoxyribonucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component of the dystrophin-glycoprotein complex which is characterized by the ability to hybridize to the DNA sequence of SEQ ID NO:1, or the fully complementary sequence thereof, under stringent hybridization conditions.
A eukaryotic cell transformed with a DNA expression construct comprising, in expressible form, a substantially pure deoxyribonucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component of the dystrophin-glycoprotein complex which is characterized by the ability to hybridize to the DNA sequence of SEQ ID NO:1, or the fully complementary sequence thereof, under stringent hybridization conditions.
A substantially pure nucleic acid molecule, or the fully complementary sequence complement thereof, the substantially pure nucleic acid molecule encoding the amino acid sequence shown in SEQ ID NO:2.
A DNA expression construct comprising, in expressible form, a substantially pure nucleic acid molecule encoding the amino acid sequence shown in SEQ ID NO:2.
A prokaryotic cell transformed with a DNA expression construct comprising, in expressible form, a substantially pure nucleic acid molecule encoding the amino acid sequence shown in SEQ ID NO:2.
A eukaryotic cell transformed with a DNA expression construct comprising, in expressible form, a substantially pure nucleic acid molecule encoding the amino acid sequence shown in SEQ ID NO:2.
A nucleic acid probe of at least 20 nucleotides which hybridizes specifically to a mutant form of .beta.-sarcoglycan, or the fully complementary sequence thereof, but not to the DNA of SEQ ID NO:1 or the fully complementary sequence thereof, under stringent hybridization conditions, the mutant form differing from the wild-type form of .beta.-sarcoglycan in a change from threonine to arginine at codon 151 shown in SEQ ID NO:1.
A nucleic acid probe of at least 20 nucleotides which hybridizes specifically to a mutant form of .beta.-sarcoglycan, or the fully complementary sequence thereof, but not to the DNA of SEQ ID NO:1 or the fully complementary sequence thereof, under stringent hybridization conditions, the mutant form differing from the wild-type form of .beta.-sarcoglycan in a change from serine to phenylalanine at codon 114 shown in SEQ ID NO:1.
A nucleic acid probe of at least 20 nucleotides which hybridizes specifically to a mutant form of .beta.-sarcoglycan, or the fully complementary sequence thereof, but not to the DNA of SEQ ID NO:1 or the fully complementary sequence thereof, under stringent hybridization conditions, the mutant form differing from the wild-type form of .beta.-sarcoglycan in a change from isoleucine to phenylalanine at codon 119 shown in SEQ ID NO:1.
Dependencies are inferred from the claim text.