Analysis of microsatellite instability and hypermutation of immunoglobulin variable genes in Werner syndrome

Karli Rosner, David B. Winter, Gunhild Lange Skovgaard, Junko Oshima, Patricia J. Gearhart, Vilhelm A. Bohr

Research output: Contribution to journalArticlepeer-review


Werner syndrome (WS) is a human premature aging syndrome, which is associated with high frequencies of neoplasia and genetic instability. We have examined the occurrence of microsatellite instability, which may result from defective mismatch repair, in lymphoblastoid cell lines derived from nine WS patients. Instability was measured at the D2S123 locus by gel analysis of PCR products. Three WS cell lines had 4-13% altered alleles, compared with 0% in the other six lines. The increased frequency of microsatellite instability could not readily be associated with overt cancer or any other known clinical condition in the three patients. To examine whether the WS defect affected the humoral immune system, we measured the hypermutation of immunoglobulin variable genes in peripheral blood cells from the WS patient who donated the cell line with the highest frequency of microsatellite instability. The frequency and pattern of mutation was similar to that from normal individuals, suggesting that the Werner protein is not involved in generating hypermutation.

Original languageEnglish (US)
Pages (from-to)1121-1133
Number of pages13
JournalMechanisms of Ageing and Development
Issue number11
StatePublished - 2001
Externally publishedYes


  • Hypermutation
  • Immunoglobulin variable gene
  • Microsatellite instability
  • Werner syndrome

ASJC Scopus subject areas

  • Aging
  • Developmental Biology


Dive into the research topics of 'Analysis of microsatellite instability and hypermutation of immunoglobulin variable genes in Werner syndrome'. Together they form a unique fingerprint.

Cite this