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 04:00:00 EST 1996 · Genomics

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

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

---

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, Journal Name: Genomics Journal Issue: 2 Vol. 32; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

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