Elsevier

Genomics

Volume 32, Issue 2, 1 March 1996, Pages 225-235
Genomics

Regular Article
Structure of the Human Receptor Tyrosine Phosphatase Gamma Gene (PTPRG) and Relation to the Familial RCC t(3;8) Chromosome Translocation

https://doi.org/10.1006/geno.1996.0109Get rights and content

Abstract

The receptor protein tyrosine phosphatase γ gene, PTPγ (locus namePTPRG), 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 PTPγ gene was an attractive tumor suppressor gene candidate for renal cell carcinoma. To determine whether the PTPγ 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 λ genomic clones for the PTPγ gene and other 3p14.2 markers and determined the relative positions of the t(3;8) break, a 3p14.2de novobreak possibly in a fragile site, and the 5′ end of the PTPγ gene. Additionally, the genomic structure, position of the proximal promotor, and intron–exon border sequences of the 30-exon ∼780-kb PTPγ gene have been determined, which will facilitate analysis of the PTPγ gene in tumors.

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