3′-phosphoadenosine-5′-phosphosulfate synthetase 1 (PAPSS1) sequence variants
AssigneeMayo Foundation for Medical Education and Research
InventorsZhenhua Xu, Eric D. Wieben, Richard M. Weinshilboum
Life of this patent
Estimating the term…
Abstract
Isolated PAPSS1 nucleic acid molecules that include a nucleotide sequence variant and nucleotides flanking the sequence variant are described, as well as PAPSS1 allozymes. Methods for determining if a mammal is predisposed to joint disease or cancer also are described.
Claims9
An isolated nucleic acid molecule consisting essentially of a variant PAPSS1 nucleic acid sequence, wherein said variant PAPSS1 nucleic acid sequence is selected from the group consisting of:
- a) at least ten contiguous nucleotides of SEQ ED NO:13, wherein said sequence includes nucleotide 729, 1051, or 1645 of SEQ ID NO:13, with the proviso that the nucleotide at position 729 of SEQ ID NO:13 is cytosine, the nucleotide at position 1051 of SEQ ID NO:13 is thymine, or the nucleotide at position 1645 of SEQ ID NO:13 is cytosine;
- b) at least ten contiguous nucleotides of SEQ ID NO:1, wherein said sequence includes nucleotide 1764 of SEQ ID NO:1, with the proviso that the nucleotide at position 1764 of SEQ ID NO:1 is guanine;
- c) at least ten contiguous nucleotides of SEQ ID NO:2, wherein said sequence includes nucleotide 552 of SEQ ID NO:2, with the proviso that the nucleotide at position 552 of SEQ ID NO:2 is guanine;
- d) at least ten contiguous nucleotides of SEQ ID NO:2, wherein said sequence includes nucleotide 755 of SEQ ID NO:2, with the proviso that the nucleotide at position 755 of SEQ ID NO:2 is thymine;
- e) at least ten contiguous nucleotides of SEQ ID NO:3, wherein said sequence includes nucleotide 639 of SEQ ID NO:3, with the proviso that the nucleotide at position 639 of SEQ ID NO:3 is guanine;
- f) at least ten contiguous nucleotides of SEQ ID NO:4, wherein said sequence includes nucleotide 368 or 436 of SEQ ID NO:4, with the proviso that the nucleotide at position 368 of SEQ ID NO:4 is thymine or that position 436 of SEQ ID NO:4 has an insertion of the sequence 5′-AGTGTTAGA-3′;
- g) at least ten contiguous nucleotides of SEQ ID NO:5, wherein said sequence includes nucleotide 596 of SEQ ID NO:5, with the proviso that the nucleotide at position 596 of SEQ ID NO:5 is cytosine;
- h) at least ten contiguous nucleotides of SEQ ID NO:9, wherein said sequence includes nucleotide 378 of SEQ ID NO:9, with the proviso that the nucleotide at position 378 of SEQ ID NO:9 is cytosine;
- i) at least ten contiguous nucleotides of SEQ ID NO:10, wherein said sequence includes nucleotide 584 or 697 of SEQ ID NO:10, with the proviso that the nucleotide at position 584 of SEQ ID NO:10 is thymine or the nucleotide at position 697 of SEQ ID NO:10 is guanine;
- and
- j) at least ten contiguous nucleotides of SEQ ID NO:11, wherein said sequence includes nucleotide 373 or 398 of SEQ ID NO:11, with the proviso that the nucleotide at position 373 of SEQ ID NO:11 is guanine or the nucleotide at position 398 of SEQ ID NO:11 is guanine;
- or
- k) the complement of (a), (b), (c), (d), (e), (f), (g), (h), (i), or (j).
An isolated nucleic acid encoding a PAPSS1 polypeptide, wherein said polypeptide comprises a single amino acid sequence variant relative to the amino acid sequence of SEQ ID NO:14, and wherein said single amino acid sequence variant is at a residue selected from the group consisting of 333 and 531.
An isolated nucleic acid encoding a PAPSS1 polypeptide, wherein said polypeptide comprises two amino acid sequence variants relative to the amino acid sequence of SEQ ID NO:14, and wherein said two amino acid sequence variants are at residues 333 and 531.
Dependencies are inferred from the claim text.