Regulatory mechanism of Sox9 gene expression in chondrocytes [RNA-seq]

The transcription factor Sox9 (Sry-Related HMG-Box gene 9) is essential in chondrogenesis. The expression Sox9 is regulated by 1.5Mb long range genomic region in temporospatial manner and genome translocation or deletion which affect Sox9 expression cause campomelic dysplasia (CD), characterized by skeletal malformations. Although functional mechanism of Sox9 are well studied so far, regulatory mechanism of Sox9 expression and its related enhancer in chondrocytes are largely remains to be elucidated. The purpose of this study is to identify Sox9 enhancers in chondrocytes RNA-seq

转录因子Sox9（Sry相关HMG盒基因9，Sry-Related HMG-Box gene 9）在软骨发生过程中不可或缺。Sox9的表达受到长度为1.5Mb的长距离基因组区域以时空模式调控；若基因组易位或缺失影响了Sox9的表达，则会引发弯肢发育异常（campomelic dysplasia, CD），该病以骨骼畸形为典型特征。尽管目前学界已对Sox9的功能机制开展了较为充分的研究，但软骨细胞中Sox9表达的调控机制及其相关增强子仍有待进一步阐明。本研究旨在通过RNA测序（RNA-seq）技术，在软骨细胞中鉴定Sox9的增强子。