Mutant DNA encoding peroxisome proliferator-activated receptor-gamma coactivator-1
OwnerGitte Andersen, Jakob Ek +2inventors
InventorsGitte Andersen, Jakob Ek, Torben Hansen, Oluf Borbye Pedersen
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Abstract
The present invention relates to a mutant DNA sequence encoding peroxisome proliferator-activated receptor-γ coactivator-1 (PGC-1), a method of detecting a mutation in the gene encoding peroxisome proliferator-activated receptor-γ coactivator-1, as well as a diagnostic composition and a test kit for use in the method.
Claims39
An isolated polynucleotide molecule selected from the group consisting of:
- (i) a polynucleotide comprising a nucleotide sequence encoding PGC-1, wherein said nucleotide sequence contains a mutation of at least one nucleotide relative to the wild-type sequence of PGC-1 and wherein said mutation is associated with type 2 diabetes, and (ii) a polynucleotide comprising a fragment of the nucleotide sequence encoding PGC-1, wherein said fragment contains a mutation of at least one nucleotide relative to the wild-type sequence of PGC-1 and wherein said mutation is associated with type 2 diabetes.
A method of detecting the presence of a mutation in a gene encoding PGC-1, the method comprising (i) obtaining a biological sample from a subject and (ii) analysing the sample for a mutation of at least one nucleotide in the PGC-1 sequence, wherein said mutation is associated with type 2 diabetes.
A method according to 16, wherein the mutation corresponds to a mutation of G in position 1564 in SEQ ID NO:
- 1 to A.
A test kit for detecting the presence of a mutation associated with type 2 diabetes in the gene encoding PGC-1, the kit comprising
- (a) a first polynucleotide comprising a nucleotide sequence corresponding to at least part of the gene encoding PGC-1 and containing a mutation of at least one nucleotide, which mutation corresponds to the mutation the presence of which in the gene encoding PGC-1 is to be detected and, optionally
- (b) a second polynucleotide comprising a nucleotide sequence corresponding to at least part of the wild-type gene encoding PGC-1, and/or optionally
- (c) a restriction endonuclease, which cleaves PGC-1-encoding DNA at the site of the mutation.
A test kit for detecting the presence of a mutation associated with type 2 diabetes in the gene encoding PGC-1, the kit comprising
- (a) means for amplifying DNA, and
- (b) a labelled polynucleotide comprising a nucleotide sequence corresponding to at least part of the gene encoding PGC-1 and containing a mutation of at least one nucleotide, which mutation corresponds to the mutation the presence of which in the gene encoding PGC-1 is to be detected.
An isolated polypeptide selected from the group consisting of
- (a) a polypeptide having an amino acid sequence which is substantially homologous to residues 1 to 798 of SEQ ID NO:
- 2;
- (b) a polypeptide which is encoded by a polynucleotide comprising a nucleic acid sequence which hybridizes under low stringency conditions with (i) nucleotides 121 to 2514 of SEQ ID NO:
- 1 or (ii) a subsequence of (i) of at least 100 nucleotides,
- (c) a variant of a polypeptide comprising an amino acid sequence of SEQ ID NO:
- 2 comprising a substitution, deletion, and/or insertion of one or more amino acids;
- (d) an allelic variant of (a) or (b);
- and
- (e) a fragment of (a), (b), (c) or (d).
- wherein said isolated polypeptide is a variant of PGC-1 carrying an amino acid substitution associated with type 2 diabetes
Dependencies are inferred from the claim text.