Human chromosome 15 and 16 bardet-biedl syndrome polynucleotides and polypeptides and methods of use
OwnerDavid Duhl, Susan W. Gormaninventors
Life of this patent
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Abstract
Amino acid and nucleic acid sequences of Bardet-Biedl Syndrome Region (BBSR) that map to human chromosome 15 or 16 are disclosed. Compositions and methods related to the genes and proteins are useful in the study, diagnosis and treatment of a variety of diseases including BBS and related conditions including obesity, retinal degeneration, and disorders affecting the nervous system, the heart, the kidneys, and the like. Compositions include those comprising BBSR polypeptides and derivatives thereof, nucleotide sequences, expression cassettes, vectors, transformed cells and antibodies. Methods include those for expression and detection of BBSR nucleotides and polypeptides.
Claims25
An isolated nucleic acid molecule comprising a polynucleotide selected from the group consisting of:
- (a) a polynucleotide encoding amino acids from about 1 to about 254 of SEQ ID NO:2;
- (b) a polynucleotide encoding amino acids from about 2 to about 254 of SEQ ID NO:2;
- (c) a polynucleotide encoding amino acids from about 1 to about 218 of SEQ ID NO:4;
- (d) a polynucleotide encoding amino acids from about 2 to about 218 of SEQ ID NO:4;
- (e) a polynucleotide encoding amino acids from about 1 to about 297 of SEQ ID NO:6;
- (f) a polynucleotide encoding amino acids from about 2 to about 297 of SEQ ID NO:6;
- (g) a polynucleotide encoding amino acids from about 1 to about 513 of SEQ ID NO:9;
- (h) a polynucleotide encoding amino acids from about 2 to about 513 of SEQ ID NO:9;
- (i) a polynucleotide consisting of SEQ ID NO:7;
- (j) the polynucleotide complement of the polynucleotide of any one of (a) through (i);
- and
- (k) a polynucleotide at least 90% identical to the polynucleotide of any one of (a) through (j).
An isolated nucleic acid molecule comprising about 762 contiguous nucleotides from the coding region of SEQ ID NO:1, about 545 contiguous nucleotides from the coding region of SEQ ID NO:3, about 891 contiguous nucleotides from the coding region of SEQ ID NO:5, or about 1539 contiguous nucleotides from the coding region of SEQ ID NO:8.
An isolated nucleic acid molecule comprising a polynucleotide encoding a polypeptide wherein, except for at least one conservative amino acid substitution, said polypeptide has an amino acid sequence selected from the group consisting of:
- (a) amino acids from about 1 to about 254 of SEQ ID NO:2;
- (b) amino acids from about 2 to about 254 of SEQ ID NO:2;
- (c) amino acids from about 1 to about 218 of SEQ ID NO:4;
- (d) amino acids from about 2 to about 218 of SEQ ID NO:4;
- (e) amino acids from about 1 to about 297 of SEQ ID NO:6;
- (f) amino acids from about 2 to about 297 of SEQ ID NO:6;
- (g) amino acids from about 1 to about 513 of SEQ ID NO:9;
- (h) amino acids from about 2 to about 513 of SEQ ID NO:9.
An isolated polypeptide comprising amino acids at least 95% identical to amino acids selected from the group consisting of:
- (a) amino acids from about 1 to about 254 of SEQ ID NO:2;
- (b) amino acids from about 2 to about 254 of SEQ ID NO:2;
- (c) amino acids from about 1 to about 218 of SEQ ID NO:4;
- (d) amino acids from about 2 to about 218 of SEQ ID NO:4;
- (e) amino acids from about 1 to about 297 of SEQ ID NO:6;
- (f) amino acids from about 2 to about 297 of SEQ ID NO:6;
- (g) amino acids from about 1 to about 513 of SEQ ID NO:9;
- (h) amino acids from about 2 to about 513 of SEQ ID NO:9.
An isolated polypeptide wherein, except for at least one conservative amino acid substitution, said polypeptide has an amino acid sequence selected from the group consisting of:
- (a) amino acids from about 1 to about 254 of SEQ ID NO:2;
- (b) amino acids from about 2 to about 254 of SEQ ID NO:2;
- (c) amino acids from about 1 to about 218 of SEQ ID NO:4;
- (d) amino acids from about 2 to about 218 of SEQ ID NO:4;
- (e) amino acids from about 1 to about 297 of SEQ ID NO:6;
- (f) amino acids from about 2 to about 297 of SEQ ID NO:6;
- (g) amino acids from about 1 to about 513 of SEQ ID NO:9;
- (h) amino acids from about 2 to about 513 of SEQ ID NO:9.
An isolated polypeptide comprising amino selected from the group consisting of:
- (a) amino acids from about 1 to about 254 of SEQ ID NO:2;
- (b) amino acids from about 2 to about 254 of SEQ ID NO:2;
- (c) amino acids from about 1 to about 218 of SEQ ID NO:4;
- (d) amino acids from about 2 to about 218 of SEQ ID NO:4;
- (e) amino acids from about 1 to about 297 of SEQ ID NO:6;
- (f) amino acids from about 2 to about 297 of SEQ ID NO:6;
- (g) amino acids from about 1 to about 513 of SEQ ID NO:9;
- (h) amino acids from about 2 to about 513 of SEQ ID NO:9.
An epitope-bearing portion of a polypeptide selected from the group consisting of SEQ ID NO:2, SEQ ID NO:4, SEQ ID NO:6, and SEQ ID NO:9.
Dependencies are inferred from the claim text.