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AssigneeUniversity of Iowa Research Foundation
InventorsJeffrey C. Murray, Elena Semina
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The invention provides nucleic acids encoding Pitx3 polypeptides, fragments thereof and homologs thereof and Pitx3 polypeptides encoded thereby. Pitx3 polypeptides play an important role in development of eye structures, e.g., the lens, and was shown herein to be associated with the formation of cataracts and Anterior Segment Mesenchymal Dysgenesis (ASMD). Thus, the invention provides methods for predicting whether a subject has or is at risk of developing cataracts or other disease associated with an aberrant Pitx3, by determining, e.g., whether the subject has a genetic lesion in a Pitx3 gene, such as a 17 bp insertion, characteristic of cataract development and ASMD or a base pair substitution at codon 13. Methods for treating cataracts or diseases or conditions associated with an aberrant Pitx3, e.g., by administering to the subject a Pitx3 therapeutic, are also disclosed, as well as assays for identifying Pitx3 therapeutics.
An isolated nucleic acid, which hybridizes to a nucleic acid having the nucleotide sequence set forth in SEQ ID NO. 2, 4, 5, 6, 8 or 29, or the complement thereof, outside of the region encoding the homeobox region and outside of the 14 amino acid C-terminal domain in 6×SSC at 65° C. followed by a wash step in 0.2×SSC at 65° C. and detects a wild-type Pitx3 gene or a Pitx3 gene having an insertion in codon 219 or a frameshift at, or before, codon 219, or a codon 13 encoding an asparagine.
A method for determining whether a subject is at risk of developing cataracts, comprising determining whether the Pitx3 gene of the subject comprises a genetic lesion consisting of an insertion in codon 219 or a frameshift at, or before, codon 219, or a codon 13 encoding an asparagine, such that the presence of a genetic lesion in the Pitx3 gene of the subject indicates that the subject has or is at risk of developing cataracts.
An isolated nucleic acid comprising a nucleotide sequence which encodes a polypeptide having the amino acid sequence set forth in SEQ ID NO:
An isolated nucleic acid consisting of a nucleotide sequence of at least 25 consecutive nucleotides of SEQ ID NO. 2, 4, 5, 6, 8 or 29, or complement thereof, that is located outside of the sequence encoding the homeobox domain and outside of the sequence encoding the 14 amino acid C-terminal domain.
An isolated nucleic acid comprising a nucleotide sequence having an overall sequence identity of at least about 95% with the sequence set forth in SEQ ID NOS. 1, 2, 4, 5, 6, 8 or 29, or complement thereof, as calculated by aligning the two sequences, counting the number of positions at which the nucleotides in both sequences are identical, and converting this number into a percentage of the total number of nucleotides of SEQ ID NO:
An isolated nucleic acid consisting of a nucleotide sequence of at least 30 consecutive nucleotides of SEQ ID NO. 2, 4, 5, 6, 8 or 29, or complement thereof, that is located outside of the sequence encoding the homeobox domain and outside of the sequence encoding the 14 amino acid C-terminal domain.
A method for determining whether a subject is at risk of developing cataracts, comprising determining whether the Pitx3 gene of the subject comprises an insertion in codon 219 or a frameshift at, or before, codon 219, such that the presence of an insertion in codon 219 or a frameshift at, or before, codon 219 of the Pitx3 gene of the subject indicates that the subject is at risk of developing cataracts.
A method for determining whether a subject has or is at risk of developing Anterior Segment Mesenchymal Dysgenesis (ASMD), comprising determining whether the Pitx3 gene of the subject comprises an insertion in codon 219 or a frameshift at, or before, codon 219, such that the presence of an insertion in codon 219 or a frameshift at, or before, codon 219 in the Pitx3 gene of the subject indicates that the subject has or is at risk of developing ASMD.
Dependencies are inferred from the claim text.