Sadakane Y, Maeda K, Kuroda Y, Hori K
Department of Biochemistry, Saga Medical School, Japan.
Biochem Biophys Res Commun. 1994 Apr 15;200(1):219-25. doi: 10.1006/bbrc.1994.1437.
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by prematurely aged appearance. Genetic linkage analysis has placed the relevant gene in subchromosomal band 8p12. DNA polymerase beta gene has been mapped to chromosome 8p12-11 and thought to be involved in DNA repair and possibly in recombination. Somatic cells from WS patients exhibit chromosomal instability, a markedly reduced replicative life span and slow growth. The functions of DNA polymerase beta gene and its position prompted us to examine this gene in WS patients. We have found the novel DNA polymerase beta cDNA species in blood samples from WS patients, which contain 107 bp insertions or 87 bp deletions in the catalytic domain of DNA polymerase beta. These mutations change the structure of DNA polymerase beta and thus the capacity of the DNA repair system would be impaired, which may account for the high mutation rate observed in WS.
沃纳综合征（WS）是一种罕见的常染色体隐性疾病，其特征为过早出现衰老外观。遗传连锁分析已将相关基因定位到染色体8p12亚染色体带。DNA聚合酶β基因已被定位到染色体8p12 - 11，并被认为参与DNA修复，可能还参与重组。WS患者的体细胞表现出染色体不稳定、复制寿命显著缩短和生长缓慢。DNA聚合酶β基因的功能及其位置促使我们在WS患者中检测该基因。我们在WS患者的血液样本中发现了新型的DNA聚合酶β cDNA种类，其在DNA聚合酶β的催化结构域中含有107 bp的插入或87 bp的缺失。这些突变改变了DNA聚合酶β的结构，从而可能损害DNA修复系统的能力，这可能解释了在WS中观察到的高突变率。
