Stanfield G M, Horvitz H R
Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge 02139, USA.
Mol Cell. 2000 Mar;5(3):423-33. doi: 10.1016/s1097-2765(00)80437-2.
Loss-of-function mutations in the gene ced-8 lead to the late appearance of cell corpses during embryonic development in C. elegans. ced-8 functions downstream of or in parallel to-the regulatory cell death gene ced-9 and may function as a cell death effector downstream of the caspase encoded by the programmed cell death killer gene ced-3. In ced-8 mutants, embryonic programmed cell death probably initiates normally but proceeds slowly. ced-8 encodes a transmembrane protein that appears to be localized to the plasma membrane. The CED-8 protein is similar to human XK, a putative membrane transport protein implicated in McLeod Syndrome, a form of hereditary neuroacanthocytosis.
ced-8基因的功能丧失突变会导致秀丽隐杆线虫胚胎发育过程中细胞尸体出现延迟。ced-8在调控细胞死亡基因ced-9的下游发挥作用或与之平行发挥作用,并且可能作为程序性细胞死亡杀手基因ced-3编码的半胱天冬酶下游的细胞死亡效应器发挥作用。在ced-8突变体中,胚胎程序性细胞死亡可能正常启动,但进展缓慢。ced-8编码一种似乎定位于质膜的跨膜蛋白。CED-8蛋白与人类XK相似,XK是一种与遗传性神经棘红细胞增多症的一种形式——麦克劳德综合征有关的假定膜转运蛋白。