Nucleic acids, polypeptides, single nucleotide polymorphisms and methods of use thereof

An isolated polypeptide comprising an amino acid sequence SEQ ID NO:2.

An isolated polypeptide comprising an amino acid sequence which is at least 95% identical to amino acid sequence SEQ ID NO:2.

An isolated polypeptide, wherein the polypeptide comprises an amino acid sequence comprising one or more conservative substitutions in the amino acid sequence of SEQ ID NO:2.

A method of treating a pathological state in a mammal, the method comprising administering to the mammal a polypeptide in an amount that is sufficient to alleviate the pathological state, wherein the polypeptide is a polypeptide having an amino acid sequence at least 95% identical to a polypeptide comprising the amino acid sequence of SEQ ID NO:2 or a biologically active fragment thereof.

An isolated nucleic acid molecule comprising a nucleic acid sequence SEQ ID NO:

• 1.

A nucleic acid molecule, wherein the nucleic acid molecule differs by a single nucleotide from a nucleic acid sequence consisting of SEQ ID NO:

• 1.

An isolated nucleic acid molecule encoding the mature form of a polypeptide having an amino acid sequence consisting of SEQ ID NO:2.

An isolated polynucleotide comprising a polymorphic nucleotide sequence selected from the group consisting of SEQ ID NOS:3, 5, 6, 8, 9, and 11.

An isolated allele-specific oligonucleotide that hybridizes to a polynucleotide at a polymorphic site encompassed therein, wherein the polynucleotide comprises a polymorphic nucleotide sequence selected from the group consisting of SEQ ID NOS:

• 3, 5, 6, 8, 9, and 11.

An isolated nucleic acid comprising a hexokinase 3-like gene comprising a polymorphism at position 1630 as defined by the positions in SEQ ID NO:3 wherein the nucleotide corresponding to position 1630 is not a thymidine.

An isolated nucleic acid comprising a SIAT-1-like gene comprising a polymorphism at position 1669 as defined by the positions in SEQ ID NO:6 wherein the nucleotide corresponding to position 1669 of SEQ ID NO:6 is not a guanosine.

An isolated nucleic acid comprising a peroxin 6-like gene comprising a polymorphism at position 3462 as defined by the positions in SEQ ID NO:9 wherein the nucleotide corresponding to position 3462 of SEQ ID NO:9 is not a cytosine.

A method for detection of at least one single nucleotide polymorphism (SNP) in a human hexokinase 3-like gene, which method comprises determining a nucleotide at position 1630 in the human hexokinase 3-like gene as defined by the positions in SEQ ID NO:3, and thereby detecting absence or presence of at least one SNP.

A method for detection of at least one single nucleotide polymorphism (SNP) in a human SIAT-1-like gene, which method comprises determining a nucleotide at position 1669 in the human SIAT-1-like gene as defined by the positions in SEQ ID NO:6, and thereby detecting absence or presence of at least one SNP.

A method for detection of at least one single nucleotide polymorphism (SNP) in a human peroxin 6-like gene, which method comprises determining a nucleotide at position 3462 in the human peroxin 6-like gene as defined by the positions in SEQ ID NO:9, and thereby detecting absence or presence of at least one SNP.

An isolated nucleic acid comprising the 5′ untranslated region of SEQ ID NO:3, 5, 6, 8, 9, or 11.

An allele-specific nucleic acid primer, comprising between 17-35 nucleotides which hybridizes to and detects a hexokinase 3-like gene polymorphism at position 814 in the hexokinase 3-like gene as defined by the positions in SEQ ID NO:3.

An allele-specific nucleic acid primer, comprising between 17-35 nucleotides which hybridizes to and detects a SIAT-1-like gene polymorphism at position 1669 in the SIAT-1-like gene as defined by the positions in SEQ ID NO:6.

An allele-specific nucleic acid primer, comprising between 17-35 nucleotides which hybridizes to and detects a peroxin 6-like gene polymorphism at position 3462 in the peroxin 6-like gene as defined by the positions in SEQ ID NO:9.

A method of treating a subject suffering from, at risk for, or suspected of, suffering from a pathology ascribed to the presence of a sequence polymorphism in a subject, the method comprising:

• a) providing a subject suffering from a pathology associated with aberrant expression of a first nucleic acid comprising a polymorphic sequence selected from the group consisting of SEQ ID NOS:3, 5, 6, 8, 9, and 11, or its complement, and
• b) administering to the subject an effective therapeutic dose of a first nucleic acid comprising the polymorphic sequence, provided that the second nucleic acid comprises the nucleotide present in the wild type allele, thereby treating said subject.

A method of treating a subject suffering from, at risk for, or suspected of suffering from, a pathology ascribed to the presence of a sequence polymorphism in a subject, the method comprising:

• a) providing a subject suffering from, at risk for, or suspected of suffering from, a pathology associated with aberrant expression of a nucleic acid comprising a polymorphic sequence selected from the group consisting of SEQ ID NOS:3, 5, 6, 8, 9, and 11, or its complement, and
• b) administering to the subject an effective dose of an oligonucleotide comprising a polymorphic sequence selected from the group consisting of SEQ ID NOS:3, 5, 6, 8, 9, and 11, or by a polynucleotide comprising a nucleotide sequence that is complementary to any one of polymorphic sequences SEQ ID NOS:3, 5, 6, 8, 9, or 11,
• thereby treating said subject.