Hickson I D, Davies S L, Li J L, Levitt N C, Mohaghegh P, North P S, Wu L
Imperial Cancer Research Fund Laboratories, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, U.K.
Biochem Soc Trans. 2001 May;29(Pt 2):201-4. doi: 10.1042/0300-5127:0290201.
The RecQ family of DNA helicases has members in all organisms analysed. In humans, defects in three family members are associated with disease conditions: BLM is defective in Bloom's syndrome, WRN in Werner's syndrome and RTS in Rothmund-Thomson syndrome. In each case, cells from affected individuals show inherent genomic instability. The focus of our work is the Bloom's syndrome gene and its product, BLM. Here, we review the latest information concerning the roles of BLM in the maintenance of genome integrity.
DNA解旋酶的RecQ家族在所有已分析的生物体中都有成员。在人类中，三个家族成员的缺陷与疾病状况相关：BLM在布卢姆综合征中存在缺陷，WRN在沃纳综合征中存在缺陷，RTS在罗思蒙德-汤姆森综合征中存在缺陷。在每种情况下，受影响个体的细胞都表现出内在的基因组不稳定性。我们工作的重点是布卢姆综合征基因及其产物BLM。在此，我们综述了有关BLM在维持基因组完整性中作用的最新信息。
