Perez-Castro A V, Wilson J, Altherr M R
Life Sciences Division, Los Alamos National Laboratory, New Mexico 87545, USA.
Genomics. 1995 Nov 20;30(2):157-62. doi: 10.1006/geno.1995.9890.
The fibroblast growth factor receptor 3 (Fgfr3) protein is a tyrosine kinase receptor involved in the signal transduction of various fibroblast growth factors. Recent studies suggest its important role in normal development. In humans, mutation in Fgfr3 is responsible for growth disorders such as achondroplasia, hypoachondroplasia, and thanatophoric dysplasia. Here, we report the complete genomic organization of the mouse Fgfr3 gene. The murine gene spans approximately 15 kb and consists of 19 exons and 18 introns. One major and one minor transcription initiation site were identified. Position +1 is located 614 nucleotides upstream from the ATG initiation codon. The translation initiation and termination sites are located in exons 2 and 19, respectively. Five Sp1 sites, two AP2 sites, one Zeste site, and one Krox 24 site were observed in the 5'-flanking region. The Fgfr3 promoter appears to be contained within a CpG island and, as is common in genes having multiple Sp1-binding sites, lacks a TATA box.
成纤维细胞生长因子受体3（Fgfr3）蛋白是一种酪氨酸激酶受体，参与多种成纤维细胞生长因子的信号转导。最近的研究表明其在正常发育中起重要作用。在人类中，Fgfr3突变会导致诸如软骨发育不全、低软骨发育不全和致死性发育异常等生长障碍。在此，我们报告小鼠Fgfr3基因的完整基因组结构。该鼠基因跨度约15 kb，由19个外显子和18个内含子组成。确定了一个主要转录起始位点和一个次要转录起始位点。+1位置位于ATG起始密码子上游614个核苷酸处。翻译起始和终止位点分别位于外显子2和19中。在5'侧翼区域观察到5个Sp1位点、2个AP2位点、1个Zeste位点和1个Krox 24位点。Fgfr3启动子似乎包含在一个CpG岛内，并且如同具有多个Sp1结合位点的基因一样，缺乏TATA框。
