肌肉特异基因C10orf71参与病理性心肌肥厚

目的转录因子MEF2通过调控肌肉特异表达基因在病理性心肌肥厚的发生发展中发挥重要的作用,但是直到目前,MEF2下游靶基因所知甚少。方法和结果我们使用自主研发的cardiosignalscan对人、小鼠和原鸡的全基因组核心启动子序列进行筛选,发现了111条启动子区含有MEF2保守结合位点的基因。整合EST表达序列数据库后,我们发现C3orf43和C10orf71是两条受MEF2调控同时在肌肉特异表达的新基因。进一步的功能研究表明,C10orf71在病理性心脏肥厚中显著升高1.6倍（P=0.012）,提示C10orf71可能参与了病理性心肌肥厚病程。结论 C10orf71是一个新的受MEF2调控的在肌肉特异表达的新基因,并可能参与了病理性心肌肥厚病程。

The muscle-specific gene C10orf71 is associated with pathological cardiac hypertrophy

Purpose The transcripion factor MEF2 play an improtant role in pathological cardiac hypertrophy via regulating the expression of downstream muscle-specific target genes.Up to date,however,these target genes of MEF2 remain largely unkown.Methods and Results To explore muscle-specific genes which was regulated by MEF2,we scaned the alignments from 3 vertebrate genomes(human,mouse and chicken) using self-developed program CardioSignalScan.To filter out non-muscle specific genes,we integrated the annotation of genes with the Unigene containing expressed sequence tags(EST) from heart or muscle.Among 111 genes,C3orf43 and C10orf71 were identified as novle muslce-specific genes which may be regulated by MEF.Furthermore,the expression of C10orf71 was upregulated by 1.6 fold(P=0.012) in pathological cardiac hypertrophy.Conclusion C10orf71 was a novle muscle-specific gene which was involved in cardiac hypetrophy.