Payne Miranda, Hickson Ian D
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Biochem Soc Trans. 2009 Jun;37(Pt 3):553-9. doi: 10.1042/BST0370553.
Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and cancer predisposition. The underlying genetic defect is mutation of the BLM gene, producing deficiency in the RecQ helicase BLM (Bloom's syndrome protein). The present article begins by introducing BLM and its binding partners before reviewing its known biochemical activities and its potential roles both as a pro-recombinase and as a suppressor of homologous recombination. Finally, the evidence for an emerging role in mitotic chromosome segregation is examined.
布卢姆综合征（BS）是一种罕见的常染色体隐性疾病，其特征为基因组不稳定和癌症易感性。潜在的基因缺陷是BLM基因突变，导致RecQ解旋酶BLM（布卢姆综合征蛋白）缺乏。本文首先介绍BLM及其结合伙伴，然后回顾其已知的生化活性以及它作为前重组酶和同源重组抑制剂的潜在作用。最后，研究其在有丝分裂染色体分离中新兴作用的证据。
