A functional analysis of short stature homeobox (SHOX) gene promoter mutation in idiopathic short stature

VernacularTitle:特发性矮小症患者SHOX基因启动子突变的功能分析
Author: Zhiya DONG ; Xiaofei DU ; Wei WANG ; Kenan QIN ; Yuan XIAO ; Defen WANG
Publication Type:Journal Article
Keywords: Idiopathic short stature; SHOX gene; Function; Polymorphism,genetic
From: Chinese Journal of Endocrinology and Metabolism 2009;25(2):147-149
CountryChina
Language:Chinese
Abstract: Objective To investigate the effect of short stature homeobox (SHOX) gene promoter-372G →A mutation on the promoter activity and its mechanism.Methods The luciferase report gene vectors containing human SHOX gene promoter-372G or -372A were contructed.Their transcription activities were detected in chicken chondrocytes.Double-stranded DNA probes containing-372G or-372A were produced by PCR,and used for detecting the affinity with nuclear transcription factors by electrophoretic mobility shift assay(EMSA).Results The transcription activity in a-372A promoter construct was significantly higher than that in the wild type-372G (P<0.01).The result of EMSA showed that-372A gene mutation resulted in loss of the binding affinity to nuclear transcription factors.Conclusion The-372A mutation increases SHOX promoter activity with decreased DNA binding affinity to transcription factors,which may contribute to impaired long bone growth in patients with idio pathic short stature.