P387L variant in protein tyrosine phosphatase-1B is associated with type 2 diabetes and impaired serine phosphorylation of PTP-1B in vitro
OwnerHelle Bach Sondergaard, Soren Morgenthaler Echwald +1inventors
InventorsHelle Bach Sondergaard, Soren Morgenthaler Echwald, Oluf Borbye Pedersen
Life of this patent
Estimating the term…
Abstract
The present invention provides an isolated polynucleotide molecule comprising a nucleotide sequence encoding PTP-1B, said nucleotide sequence containing a mutation associated with type 2 diabetes of at least one nucleotide, or comprising a fragment of the
Claims36
An isolated polynucleotide comprising a nucleotide sequence encoding protein tyrosine phosphatase-1B (PTP-1B) or a fragment thereof, wherein said nucleotide sequence comprises a mutation associated with type 2 diabetes.
A method for determining predisposition to type 2 diabetes, said method comprising analysing a biological sample obtained from a subject for a mutation in PTB-1B, wherein said mutation is associated with type 2 diabetes.
A test kit for detecting the presence of a mutation associated with type 2 diabetes in the gene encoding PTP-1B, the kit comprising:
- (a) a first polynucleotide comprising a nucleotide sequence corresponding to at least part of the gene encoding PTP-1B and containing a mutation of at least one nucleotide, which mutation corresponds to the mutation the presence of which in the gene encoding PTP-1B 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 PTP-1B;
- and/or optionally
- (c) a restriction endonuclease that cleaves DNA at the site of the mutation.
An isolated polypeptide selected from the group consisting of
- (a) a polypeptide comprising an amino acid sequence substantially homologous to residues 1 to 435 of SEQ ID NO:
- 2;
- (b) a polypeptide encoded by a polynucleotide comprising a nucleic acid sequence which hybridizes under low stringency conditions with (i) nucleotides 91 to 1395 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 PTP-1B carrying an amino acid substitution associated with type 2 diabetes
A method for determining the ability of a composition to regulate the phosphorylation of PTP-1B, said method comprising (i) combining said composition with a polypeptide according to claim 44 and (ii) determining the degree of phosphorylation of said polypeptide.
Dependencies are inferred from the claim text.