Cantor S B, Bell D W, Ganesan S, Kass E M, Drapkin R, Grossman S, Wahrer D C, Sgroi D C, Lane W S, Haber D A, Livingston D M
The Dana-Farber Cancer Institute and the Harvard, Medical School, Boston, MA 02115, USA.
Cell. 2001 Apr 6;105(1):149-60. doi: 10.1016/s0092-8674(01)00304-x.
BRCA1 interacts in vivo with a novel protein, BACH1, a member of the DEAH helicase family. BACH1 binds directly to the BRCT repeats of BRCA1. A BACH1 derivative, bearing a mutation in a residue that was essential for catalytic function in other helicases, interfered with normal double-strand break repair in a manner that was dependent on its BRCA1 binding function. Thus, BACH1/BRCA1 complex formation contributes to a key BRCA1 activity. In addition, germline BACH1 mutations affecting the helicase domain were detected in two early-onset breast cancer patients and not in 200 matched controls. Thus, it is conceivable that, like BRCA1, BACH1 is a target of germline cancer-inducing mutations.
BRCA1在体内与一种新型蛋白质BACH1相互作用，BACH1是DEAH解旋酶家族的成员。BACH1直接与BRCA1的BRCT重复序列结合。一种BACH1衍生物，其在其他解旋酶中对催化功能至关重要的一个残基发生了突变，以一种依赖于其BRCA1结合功能的方式干扰了正常的双链断裂修复。因此，BACH1/BRCA1复合物的形成有助于BRCA1的一项关键活性。此外，在两名早发性乳腺癌患者中检测到影响解旋酶结构域的种系BACH1突变，而在200名匹配的对照中未检测到。因此，可以想象，与BRCA1一样，BACH1也是种系致癌突变的靶点。
