腹部斑点和尾巴（Bst）中的核糖体蛋白L24缺陷，一种小鼠微小体。
Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute.
作者信息
Oliver Edward R, Saunders Thomas L, Tarlé Susan A, Glaser Tom
机构信息
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
出版信息
Development. 2004 Aug;131(16):3907-20. doi: 10.1242/dev.01268.
Ribosomal protein mutations, termed Minutes, have been instrumental in studying the coordination of cell and tissue growth in Drosophila. Although abundant in flies, equivalent defects in mammals are relatively unknown. Belly spot and tail (Bst) is a semidominant mouse mutation that disrupts pigmentation, somitogenesis and retinal cell fate determination. Here, we identify Bst as a deletion within the Rpl24 riboprotein gene. Bst significantly impairs Rpl24 splicing and ribosome biogenesis. Bst/+ cells have decreased rates of protein synthesis and proliferation, and are outcompeted by wild-type cells in C57BLKS<-->ROSA26 chimeras. Bacterial artificial chromosome (BAC) and cDNA transgenes correct the mutant phenotypes. Our findings establish Bst as a mouse Minute and provide the first detailed characterization of a mammalian ribosomal protein mutation.
核糖体蛋白突变，即所谓的“Minute”，在研究果蝇细胞和组织生长的协调方面发挥了重要作用。尽管在果蝇中很常见，但哺乳动物中的等效缺陷相对不为人知。腹部斑点和尾巴（Bst）是一种半显性小鼠突变，会破坏色素沉着、体节形成和视网膜细胞命运决定。在这里，我们确定Bst是核糖体蛋白L24（Rpl24）基因内的一个缺失。Bst显著损害Rpl24的剪接和核糖体生物合成。Bst/+细胞的蛋白质合成和增殖速率降低，并且在C57BLKS<-->ROSA26嵌合体中被野生型细胞淘汰。细菌人工染色体（BAC）和cDNA转基因可纠正突变表型。我们的研究结果将Bst确定为小鼠“Minute”，并首次对哺乳动物核糖体蛋白突变进行了详细表征。
Zotero 插件