Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.
Life Sciences Institute, University of Michigan, Ann Arbor, Michigan.
PLoS One. 2020 Jan 24;15(1):e0227450. doi: 10.1371/journal.pone.0227450. eCollection 2020.
Newly synthesized proteins co-translationally inserted into the endoplasmic reticulum (ER) lumen may be recruited into anterograde transport vesicles by their association with specific cargo receptors. We recently identified a role for the cargo receptor SURF4 in facilitating the secretion of PCSK9 in cultured cells. To examine the function of SURF4 in vivo, we used CRISPR/Cas9-mediated gene editing to generate mice with germline loss-of-function mutations in Surf4. Heterozygous Surf4+/- mice exhibit grossly normal appearance, behavior, body weight, fecundity, and organ development, with no significant alterations in circulating plasma levels of PCSK9, apolipoprotein B, or total cholesterol, and a detectable accumulation of intrahepatic apoliprotein B. Homozygous Surf4-/- mice exhibit embryonic lethality, with complete loss of all Surf4-/- offspring between embryonic days 3.5 and 9.5. In contrast to the milder murine phenotypes associated with deficiency of known SURF4 cargoes, the embryonic lethality of Surf4-/- mice implies the existence of additional SURF4 cargoes or functions that are essential for murine early embryonic development.
新合成的蛋白质可共翻译插入内质网(ER)腔中,通过与特定货物受体的结合,可能被招募到正向转运小泡中。我们最近发现货物受体 SURF4 在促进培养细胞中 PCSK9 的分泌中具有作用。为了研究 SURF4 在体内的功能,我们使用 CRISPR/Cas9 介导的基因编辑技术生成了 Surf4 种系缺失功能突变的小鼠。杂合 Surf4+/- 小鼠表现出明显正常的外观、行为、体重、繁殖力和器官发育,循环血浆中的 PCSK9、载脂蛋白 B 或总胆固醇水平没有明显改变,并且肝内载脂蛋白 B 的积累可检测到。纯合 Surf4-/- 小鼠表现出胚胎致死性,所有 Surf4-/- 后代在胚胎第 3.5 天至第 9.5 天之间完全丢失。与已知 SURF4 货物缺乏相关的更温和的小鼠表型相反,Surf4-/- 小鼠的胚胎致死性意味着存在额外的 SURF4 货物或对小鼠早期胚胎发育至关重要的功能。