High bone mass gene of 11q13.3

An isolated amino acid sequence of SEQ ID NO:

• 4.

A nucleic acid sequence encoding the amino acid sequence of SEQ ID NO:4.

A method of identifying a molecule involved in bone modulation comprising identifying a molecule that binds to, or that inhibits binding of a molecule to, HBM.

A method for identifying a protein involved in bone modulation comprising identifying a protein that has an expression level that is different in a first host comprising the Zmax1 gene when compared to a second host comprising the HBM gene.

A method of identifying a candidate protein involved in bone modulation comprising

• identifying a protein in a first individual having the high bone mass phenotype;
• identifying a protein in a second individual not having the high bone mass phenotype;
• comparing the protein of the first individual to the protein of the second individual, wherein (i) the protein that is present in the first individual but not the second individual is the candidate protein or (ii) the protein that is present in a higher amount in the first individual than in the second individual is the candidate protein or (iii) the protein that is present in a lower amount in the first individual than in the second individual is the candidate protein.

A method of identifying a candidate protein involved in bone modulation comprising

• identifying a protein in a first individual having the high bone mass phenotype;
• identifying a protein in a second individual not having the high bone mass phenotype;
• comparing the protein of the first individual to the protein of the second individual, wherein (i) the protein that is present in the second individual but not the first individual is the candidate protein or (ii) the protein that is present in a higher amount in the second individual than in the first individual is the candidate protein or (iii) the protein that is present in a lower amount in the second individual than in the first individual is the candidate protein.

A method of testing for HBM activity comprising immobilizing an HBM protein, binding a protein to the HBM protein, and measuring the extent of binding.

A method of pharmaceutical development for treatment of bone development disorders comprising identifying a molecule that binds to the amino acid sequence of SEQ ID NO:

• 4.

A method for diagnostic screening for a genetic predisposition to a bone development disorder comprising screening a sample from a patient with a nucleotide sequence derived from the genomic or cDNA nucleic acid sequence of HBM.

A diagnostic assay for bone development disorders comprising an antibody to the HBM protein.

A bacterial artificial chromosome having the nucleic acid sequence of SEQ ID NO:

• 5,6,7,8,9, 10 or 11.

An isolated nucleic acid sequence comprising at least 15 contiguous nucleotides of the nucleic acid sequence of SEQ ID NO:

• 2, wherein one of the at least 15 contiguous nucleotides is thymine at position 582.

An isolated nucleic acid sequence comprising at least 15 contiguous nucleotides of the nucleic acid sequence of SEQ ID NO:

• 2, wherein one of the at least 15 contiguous nucleotides is thymine at position 582, and which encodes for an amino acid sequence including a valine corresponding to valine at position 171 of SEQ ID NO:
• 4.

An isolated nucleic acid segment of at least 15 contiguous nucleotides including a polymorphic site from the nucleic acid sequence of SEQ ID NO:

• 2 in which G at position 582 is replaced by T, and sequences complementary thereto.