Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant craniofacial and skeletal dysplasia that is caused by mutations involving the TRPS1 gene. Patients with TRPS have short stature, hip abnormalities, cone-shaped epiphyses and premature closure of growth plates reflecting defects in endochondral ossification. The TRPS1 gene encodes for the transcription factor TRPS1 that has been demonstrated to repress transcription in vitro. To elucidate the molecular mechanisms underlying skeletal abnormalities in TRPS, we analyzed Trps1 mutant mice (Trps1DeltaGT mice). Analyses of growth plates demonstrated delayed chondrocyte differentiation and accelerated mineralization of perichondrium in Trps1 mutant mice. These abnormalities were accompanied by increased Runx2 and Ihh expression and increased Indian hedgehog signaling. We demonstrated that Trps1 physically interacts with Runx2 and represses Runx2-mediated trans-activation. Importantly, generation of Trps1(DeltaGT/+);Runx2(+/-) double heterozygous mice rescued the opposite growth plate phenotypes of single mutants, demonstrating the genetic interaction between Trps1 and Runx2 transcription factors. Collectively, these data suggest that skeletal dysplasia in TRPS is caused by dysregulation of chondrocyte and perichondrium development partially due to loss of Trps1 repression of Runx2.

译文

:Tricho-r​​hino-phalangeal综合征(TRPS)是常染色体显性遗传性颅面和骨骼发育异常,是由涉及TRPS1基因的突变引起的。患有TRPS的患者身材矮小,髋关节异常,锥形骨phy和生长板过早闭合,反映出软骨内骨化的缺陷。 TRPS1基因编码转录因子TRPS1,已证明在体外抑制转录。为了阐明TRPS骨骼异常的分子机制,我们分析了Trps1突变小鼠(Trps1DeltaGT小鼠)。生长板的分析表明延迟的软骨细胞分化和Trps1突变小鼠中软骨膜的加速矿化。这些异常伴随有Runx2和Ihh表达的增加以及印度刺猬信号的增加。我们证明了Trps1在物理上与Runx2相互作用并抑制Runx2介导的反式激活。重要的是,Trps1(DeltaGT /); Runx2(/-)双杂合子小鼠的产生拯救了单个突变体的相反生长板表型,证明了Trps1和Runx2转录因子之间的遗传相互作用。总体而言,这些数据表明TRPS中的骨骼发育异常是由于软骨细胞失调和软骨膜发育异常引起的,部分原因是Runx2的Trps1抑制丧失。

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