Evidence against DNA polymerase β as a candidate gene for Werner syndrome

Ming Chang, Glenna C. Burmer, Joann Sweasy, Lawrence A. Loeb, Susanne Edelhoff, Christine M. Disteche, Chang En Yu, Leojean Anderson, Junko Oshima, Jun Nakura, Tetsuro Miki, Kouzin Kamino, Toshio Ogihara, Gerard D. Schellenberg, George M. Martin

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Werner syndrome (WS) is a rare autosomal recessive disorder of humans characterized by the premature onset and accelerated rate of development of several major age-related disorders. An aberration in DNA replication or repair is suggested by the evidence of genome instability. Since the structural gene for DNA polymerase β maps within the region of the WS mutation on the short arm of chromosome 8 and is involved in both DNA repair and DNA replication, we evaluated its candidacy as the WS gene. Several independent lines of evidence did not support that hypothesis: (1) activity gels showed normal enzyme activity and electrophoretic mobility; (2) nucleotide sequence analysis of the entire coding region failed to reveal mutations (although indicated mistakes in the published sequence); (3) single-strand conformation polymorphism (SSCP) and heteroduplex analyses failed to reveal evidence of mutations in the promoter region; (4) a newly discerned polymorphism failed to reveal evidence of homozygosity by descent in a consanguineous patient; and 5) fluorescence in situ hybridization (FISH) analysis placed the DNA polymerase β gene centromeric to D8S135 at 8p11.2 and thus beyond the region of peak LOD scores for WS.

Original languageEnglish (US)
Pages (from-to)507-512
Number of pages6
JournalHuman Genetics
Issue number5
StatePublished - May 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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