Genetic mapping of a Ptch1-associated rhabdomyosarcoma susceptibility locus on mouse chromosome 2

Genomics. 2004 Nov;84(5):853-8. doi: 10.1016/j.ygeno.2004.07.002.

Abstract

Mutations in the Patched (Ptch1) gene are responsible for various familial and sporadic cancers. Ptch1(neo67/+) mice, in which exons 6 and 7 are deleted, show genetic background-dependent susceptibility to the development of muscle tumors resembling human rhabdomyosarcoma (RMS); BALB/c (BALB) is a susceptible strain whereas C57BL/6 (B6) shows resistance. A genome-wide linkage analysis was carried out using Ptch1(neo67/+)mice produced from B6 x (BALB x B6) backcrosses to identify loci involved in the control of RMS susceptibility. Quantitative trait locus mapping with the censored tumor latency time as the quantitative parameter was used to detect a significant RMS susceptibility modifier locus, Parms1 (Patched-Associated RMS 1), on chromosome 2 between D2Mit37 and D2Mit102 (LRS = 10). A Kaplan-Meier survival curve revealed that mice with the B6/BALB genotype develop tumors more frequently and much faster as compared to mice homozygous for the B6 allele (P = 0.02). Additional loci not reaching linkage significance were also detected for medulloblastoma resistance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Mammalian / genetics*
  • Crosses, Genetic
  • Female
  • Genetic Linkage
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Proteins
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Patched Receptors
  • Patched-1 Receptor
  • Proteins / genetics*
  • Quantitative Trait Loci / genetics
  • Receptors, Cell Surface
  • Rhabdomyosarcoma / genetics*

Substances

  • Genetic Markers
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Proteins
  • Ptch1 protein, mouse
  • Receptors, Cell Surface