Stepwise deletions of polyA sequences in mismatch repair-deficient colorectal cancers

Am J Pathol. 2001 May;158(5):1867-70. doi: 10.1016/S0002-9440(10)64143-0.

Abstract

PolyA simple repeat sequence deletions are common in tumors with microsatellite instability (MSI+). Such deletions occur one base at a time in DNA mismatch repair (MMR)-deficient yeast suggesting larger deletions in human MSI+ tumors represent multiple sequential stepwise losses. Sum total deletions in four polyA repeats were variable (between -17 to -45 bp) in 20 sporadic MSI+ colorectal cancers. Progressive but less extensive total deletions (maximum of -12 bp) occurred in similar polyA sequences in MMR-deficient mice (mlh1-/-) up to 478 days old. PolyA repeat lengths were relatively stable but already shortened in the MMR-deficient cell line HCT116. A transgene with 26 A's transfected into HCT116 shortened an average of 3.8 bases pairs after 469 days in culture, less than average deletions of BAT25 (-5.3) or BAT26 (-9.0) in MSI+ cancers. These findings further suggest that extensive polyA deletions common in MSI+ tumors likely reflect multiple stepwise smaller deletions that accumulate more than hundreds of divisions after loss of MMR.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Animals
  • Base Pair Mismatch / genetics
  • Carrier Proteins
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / metabolism
  • Colorectal Neoplasms / pathology
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA Repair
  • HT29 Cells
  • Humans
  • Intestinal Mucosa / metabolism
  • Mice
  • Mice, Knockout
  • Microsatellite Repeats / genetics
  • MutL Protein Homolog 1
  • Mutation
  • Neoplasm Proteins / deficiency*
  • Neoplasm Proteins / genetics
  • Nuclear Proteins
  • Poly A / genetics*
  • Sequence Deletion
  • Tumor Cells, Cultured

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Mlh1 protein, mouse
  • Neoplasm Proteins
  • Nuclear Proteins
  • Poly A
  • DNA
  • MutL Protein Homolog 1