Plavicki Jessica S, Baker Tracie R, Burns Felipe R, Xiong Kong M, Gooding Alex J, Hofsteen Peter, Peterson Richard E, Heideman Warren
School of Pharmacy, University of Wisconsin-Madison, Madison, WI, USA.
Int J Dev Biol. 2014;58(9):693-9. doi: 10.1387/ijdb.140288jp.
The transcription factor SOX9 is a member of the SRY-related high-mobility-group box (SOX) superfamily of genes. In mammals, Sox9 plays important roles in many developmental processes including craniofacial, skeletal and heart morphogenesis, retinal and brain development, and gonad differentiation. Human mutations in SOX9 or the SOX9 promoter result in campomelic dysplasia, a severe genetic disorder, which disrupts skeletal, craniofacial, cardiac, neural and reproductive development. Due to the duplication of the teleost fish genome, zebrafish (Danio rerio) have two Sox9 genes: sox9a and sox9b. Loss of sox9b in zebrafish results in loss of function phenotypes that are similar to those observed in humans and mice. In order to generate a transgenic sox9b:EGFP reporter line, we cloned a 2450 bp fragment of the sox9b promoter and fused it to an EGFP reporter. Consistent with reported sox9b expression and function, we observed sox9b:EGFP in the developing heart, skeletal and craniofacial structures, brain, retina, and ovaries. Our resulting transgenic line is a useful tool for identifying and studying sox9b function in development and visualizing a number of zebrafish organs and tissues in which sox9b is normally expressed.
转录因子SOX9是SRY相关的高迁移率族盒（SOX）基因超家族的成员。在哺乳动物中，Sox9在许多发育过程中发挥重要作用，包括颅面、骨骼和心脏形态发生、视网膜和大脑发育以及性腺分化。人类SOX9或SOX9启动子的突变会导致弯肢侏儒症，这是一种严重的遗传疾病，会破坏骨骼、颅面、心脏、神经和生殖发育。由于硬骨鱼基因组的复制，斑马鱼（Danio rerio）有两个Sox9基因：sox9a和sox9b。斑马鱼中sox9b的缺失会导致功能丧失表型，这与在人类和小鼠中观察到的表型相似。为了生成转基因sox9b:EGFP报告基因系，我们克隆了sox9b启动子的一个2450 bp片段，并将其与EGFP报告基因融合。与报道的sox9b表达和功能一致，我们在发育中的心脏、骨骼和颅面结构、大脑、视网膜和卵巢中观察到了sox9b:EGFP。我们得到的转基因系是一种有用的工具，可用于识别和研究sox9b在发育中的功能，并可视化正常表达sox9b的许多斑马鱼器官和组织。
