Grewe Brian S, Richmond Janet E, Featherstone David E
University of Illinois at Chicago, Department of Biological Sciences, 845 West Taylor St. M/C 066, Chicago, IL 60607-7060, United States.
University of Illinois at Chicago, Department of Biological Sciences, 845 West Taylor St. M/C 066, Chicago, IL 60607-7060, United States.
Gene Expr Patterns. 2018 Sep;29:39-46. doi: 10.1016/j.gep.2018.04.004. Epub 2018 Apr 13.
The Drosophila gene c12.2 was isolated in a screen examining mRNA binding proteins. Drosophila c12.2 is the mouse Vwa8 homolog. Various genome-wide associated studies have linked human Vwa8 to both neurological and oncological pathologies, which include autism, bipolar disorder, comorbid migraine, and acute myeloid leukemia, however, the function and role of the VWA8 protein remain poorly understood. To further analyze the Vwa8 gene in mouse, gene structure, protein homology modeling, and gene expression patterns were examined throughout mouse development. Our analyses indicate that the mouse Vwa8 gene produces two transcripts; the full-length Vwa8a is highly expressed relative to the truncated Vwa8b transcript across all developmental time points and tissues analyzed. Protein homology modeling indicates that VWA8a belongs to a novel protein superfamily containing both the midasin and cytoplasmic dynein 1 heavy chain 1 proteins. These data establish the development timeline and expression profile for both Vwa8a and Vwa8b, paving the way for future studies to determine the cellular role(s) of this highly conserved protein family.
果蝇基因c12.2是在一项检测mRNA结合蛋白的筛选中分离出来的。果蝇c12.2是小鼠Vwa8的同源物。各种全基因组关联研究已将人类Vwa8与神经和肿瘤病理学联系起来，其中包括自闭症、双相情感障碍、共病偏头痛和急性髓系白血病，然而，VWA8蛋白的功能和作用仍知之甚少。为了进一步分析小鼠中的Vwa8基因，我们在小鼠整个发育过程中研究了基因结构、蛋白质同源建模和基因表达模式。我们的分析表明，小鼠Vwa8基因产生两种转录本；在所有分析的发育时间点和组织中，全长Vwa8a相对于截短的Vwa8b转录本高度表达。蛋白质同源建模表明，VWA8a属于一个新型蛋白质超家族，该家族同时包含中达辛和细胞质动力蛋白1重链1蛋白。这些数据确定了Vwa8a和Vwa8b的发育时间线和表达谱，为未来研究确定这个高度保守的蛋白质家族的细胞作用铺平了道路。
