The genetic basis of a craniofacial disease provides insight into COPII coat assembly

被引:155
作者
Fromme, J. Christopher
Ravazzola, Mariella
Hamamoto, Susan
A-Balwi, Mohammed
Eyaid, Wafaa
Boyadjiev, Simeon A.
Cosson, Pierre
Schekman, Randy
Orci, Lelio
机构
[1] Univ Calif Berkeley, Dept Mol & Cell Biol, Berkeley, CA 94720 USA
[2] Univ Geneva, Med Ctr, Dept Cell Physiol & Metab, CH-1211 Geneva 4, Switzerland
[3] Univ Calif Berkeley, Howard Hughes Med Inst, Berkeley, CA 94720 USA
[4] Dept Pathol & Lab Med, Riyadh 11426, Saudi Arabia
[5] King Fahad Hosp, Dept Pediat, Riyadh 11426, Saudi Arabia
[6] Univ Calif Davis, Dept Pediat, Genet Sect, Sacramento, CA 95817 USA
关键词
D O I
10.1016/j.devcel.2007.10.005
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Proteins trafficking through the secretory pathway must first exit the endoplasmic reticulum (ER) through membrane vesicles created and regulated by the COPll coat protein complex. Cranio-lenticulo-sutural dysplasia (CLSD) was recently shown to be caused by a missense mutation in SEC23A, a gene encoding one of two paralogous CON coat proteins. We now elucidate the molecular mechanism underlying this disease. In vitro assays reveal that the mutant form of SEC23A poorly recruits the Sec13-Sec31 complex, inhibiting vesicle formation. Surprisingly, this effect is modulated by the Sar1 GTPase paralog used in the reaction, indicating distinct affinities of the two human Sar1 paralogs for the Sec13-Sec31 complex. Patient cells accumulate numerous tubular cargo-containing ER exit sites devoid of observable membrane coat, likely representing an intermediate step in COPll vesicle formation. Our results indicate that the Sar1-Sec23-Sec24 prebudding complex is sufficient to form cargo-containing tubules in vivo, whereas the Sec13-Sec31 complex is required for membrane fission.
引用
收藏
页码:623 / 634
页数:12
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