Patched genes and uses related thereto
First Claim
1. An assay for phenotyping the patched status of a cell, comprising detecting in vitro, in a sample of mammalian cells, the presence or absence of a genetic lesion in a patched gene characterzed by at least one of (i) aberrant modification or mutation of a patched gene, and (ii) mis-expression of the patched gene.
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Abstract
Methods for isolating patched genes, particularly mammalian patched genes, including the mouse and human patched genes, as well as invertebrate patched genes and sequences, are provided. Decreased expression of patched is associated with the occurrence of human cancers, particularly basal cell carcinomas of the skin. The cancers may be familial, having as a component of risk an inherited genetic predisposition, or may be sporadic. The patched and hedgehog genes are useful in creating transgenic animal models for these human cancers. The patched nucleic acid compositions find use in identifying homologous or related proteins and the DNA sequences encoding such proteins; in producing compositions that modulate the expression or function of the protein; and in studying associated 15 physiological pathways. In addition, modulation of the gene activity in vivo is used for prophylactic and therapeutic purposes, such as treatment of cancer, identification of cell type based on expression, and the like. The DNA is further used as a diagnostic for a genetic predisposition to cancer, and to identify specific cancers having mutations in this gene.
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Citations
31 Claims
- 1. An assay for phenotyping the patched status of a cell, comprising detecting in vitro, in a sample of mammalian cells, the presence or absence of a genetic lesion in a patched gene characterzed by at least one of (i) aberrant modification or mutation of a patched gene, and (ii) mis-expression of the patched gene.
- 13. A method for diagnosing a genetic predisposition of an animal for at least one of a developmental abnormality or a proliferative disorder wherein the developmental abnormality or proliferative disorder correlates with aberrant expression or activity of a patched gene or gene product, comprising detecting in vitro the presence of a predisposing mutation in a patched gene in cells of said animal, wherein the presence of said predisposing mutation indicates that said individual has a genetic predisposition for at least one of developmental abnormalities or a proliferative disorder.
- 22. A method for characterizing the phenotype of a tumor, comprising detecting the presence of an oncogenic patched mutation in cells of the tumor, wherein the presence of said oncogenic mutation indicates that said tumor has a patched-associated phenotype.
Specification