Structure of the human receptor tyrosine phosphatase gamma gene (PTPRG) and relation to the familial RCC t(3;8) chromosome translocation

Journal Article · Fri Mar 01 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0109· OSTI ID:466596

Kastury, K; Ohta, M; Druck, T; Huebner, K ^[1]

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1. Jefferson Medical College, Philadelphia, PA (United States); and others

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{prime} end of the PTP{gamma} gene. Additionally, the genomic structure, position of the proximal promotor, and intron-exon border sequences of the 30-exon {approximately} 780-kb PTP{gamma} gene have been determined, which will facilitate analysis of the PTP{gamma} gene in tumors. 49 refs., 3 figs., 3 tabs.

• OSTI ID: 466596
• Journal Information: Genomics, Vol. 32, Issue 2; Other Information: PBD: 1 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 3
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
PHOSPHATASES
RECEPTORS
STRUCTURE-ACTIVITY RELATIONSHIPS
ENZYME ACTIVITY
DNA-CLONING
TRANSCRIPTION
DNA SEQUENCING
HUMAN CHROMOSOME 8
MAN
CARCINOMAS
HEREDITARY DISEASES
CONTIGS
DESIGN
TYROSINE
POLYMERASE CHAIN REACTION
BIOLOGICAL MARKERS
PHOSPHOTRANSFERASES
OLIGONUCLEOTIDES
ELECTROPHORESIS
DNA HYBRIDIZATION
FLUORESCENCE