Positional cloning of the hereditary renal carcinoma 3;8 chromosome translocation breakpoint

Proc Natl Acad Sci U S A. 1993 Sep 15;90(18):8509-13. doi: 10.1073/pnas.90.18.8509.

Abstract

The chromosome (p14.2;q24.1) translocation t(3;8) has been associated with hereditary renal cancer in one family. Based on cytogenetic analyses and loss-of-heterozygosity experiments, the 3p14 region has been independently implicated as harboring a tumor suppressor gene critical to kidney and lung cancer development. The 3p14.2 region also contains FRA3B, the most sensitive fragile site induced by aphidicolin. A chromosome 3 probe, R7K145, derived from a radiation-reduced hybrid was positioned between the t(3;8) breakpoint and an aphidicolin-induced 3p14 breakpoint. A yeast artificial chromosome (YAC) contig containing R7K145 was developed that crossed the aphidicolin-induced breakpoint on its telomeric side. A subsequent chromosome walk identified a YAC that crossed the 3;8 translocation breakpoint. A lambda sublibrary allowed isolation of clones spanning the rearrangement. Unique and evolutionarily conserved DNA sequences were used to screen a kidney cDNA library. We have identified a gene, referred to as HRCA1 (hereditary renal cancer associated 1), that maps immediately adjacent to the breakpoint. On the basis of its chromosomal position, HRCA1 may be a candidate tumor suppressor gene.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Blotting, Northern
  • Cell Line
  • Chromosome Aberrations
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 8*
  • Clone Cells
  • Cloning, Molecular
  • DNA / genetics
  • DNA / isolation & purification
  • DNA Probes
  • Gene Library
  • Humans
  • Hybrid Cells
  • Kidney
  • RNA / genetics
  • RNA / isolation & purification
  • Translocation, Genetic*
  • Urinary Bladder Neoplasms / genetics*

Substances

  • DNA Probes
  • RNA
  • DNA