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A functional analysis of short stature homeobox (SHOX) gene promoter mutation in idiopathic short stature / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism ; (12): 147-149, 2009.
Article in Chinese | WPRIM | ID: wpr-395314
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.

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Endocrinology and Metabolism Year: 2009 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Endocrinology and Metabolism Year: 2009 Type: Article