title: Structure of the human receptor tyrosine phosphatase gamma gene (PTPRG) and relation to the familial RCC t(3;8) chromosome translocation.
abstract: The receptor protein tyrosine phosphatase gamma gene, PTP gamma (locus name PTPRG), was previously mapped to chromosome region 3p14.2, within a 2- to 4-Mb region centromeric to the 3p14.2 breakpoint of the t(3;8) familial renal cell carcinoma (RCC)-associated constitutional chromosome translocation. Because of its chromosomal position, its enzymatic properties as a receptor phosphatase, which might oppose a growth activating kinase activity, its homozygous deletion in murine L cells, and its transcriptional activity in numerous normal tissues, including kidney, the PTP gamma gene was an attractive tumor suppressor gene candidate for renal cell carcinoma. To determine whether the PTP gamma gene was a target of loss of heterozygosity or mutation in RCCs and to determine its map position relative to the t(3;8) break at 3p14.2, we have isolated YAC and lambda genomic clones for the PTP gamma gene and other 3p14.2 markers and determined the relative positions of the t(3;8) break, a 3p14.2 de novo break possibly in a fragile site, and the 5' end of the PTP gamma gene. Additionally, the genomic structure, position of the proximal promotor, and intron-exon border sequences of the 30-exon 780-kb PTP gamma gene have been determined, which will facilitate analysis of the PTP gamma gene in tumors.
authors.affiliation: Department of Microbiology-Immunology, Jefferson Medical College, Philadelphia, PA 19107, USA.
authors.forename: K
authors.initials: K
authors.lastname: Kastury
authors.forename: M
authors.initials: M
authors.lastname: Ohta
authors.forename: J
authors.initials: J
authors.lastname: Lasota
authors.forename: D
authors.initials: D
authors.lastname: Moir
authors.forename: T
authors.initials: T
authors.lastname: Dorman
authors.forename: S
authors.initials: S
authors.lastname: LaForgia
authors.forename: T
authors.initials: T
authors.lastname: Druck
authors.forename: K
authors.initials: K
authors.lastname: Huebner
mesh_terms: D001483:Base Sequence; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D004247:DNA; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5; D014178:Translocation, Genetic
chemical_list: D009419:Nerve Tissue Proteins; D004247:DNA; C516850:PTPRG protein, human; D017027:Protein Tyrosine Phosphatases; D054633:Receptor-Like Protein Tyrosine Phosphatases, Class 5