Role of PITX2 R62H Mutation in Ring Dermoid of Cornea
- VernacularTitle:PITX2 R62H突变导致角膜环状皮样瘤的分子基础
- Author:
Xiaoping LIU
;
Feizhou ZHU
;
Guo WANG
;
Qipan DENG
;
Jing ZHANG
;
Qiong LI
;
Jie LING
;
Lingqian WU
;
Desheng LIANG
;
Qian PAN
;
Zhigao LONG
;
Huiyong GONG
;
Jiahui XIA
;
Zhuohua ZHANG
;
Kun XIA
- Publication Type:Journal Article
- Keywords:
ring dermoid of cornea (RDC), PITX2, transcription factor, ?-catenin, Cyclin D1
- From:
Progress in Biochemistry and Biophysics
2006;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Ring dermoid of cornea (RDC) is an autosomal dominant disorder of cornea. The previous study identified a G185A mutation of PITX2 gene in a Chinese family with RDC. To investigate the pathological mechanism of PITX2 R62H mutation, a PITX2 prokaryotic expression plasmid were constructed and GST-PITX2 fusion protein were purified. EMSA was further conducted. The DNA-banding ability of PITX2 R62H was similar to that of the wild type PITX2 were found. The cell lines stably expressed PITX2 was also generated, and cell cycle were analyzed by flow cytometry, and the expression of ?-catenin and Cyclin D1 were detected by quantitative Real-time PCR. The results showed that proliferating ability of cells expressing PITX2 R62H was lower than that of cells expressing PITX2 WT, as well as ?-catenin and Cyclin D1 mRNA level. These findings revealed that PITX2 R62H mutation affected the Wnt/?-catenin→PITX2 pathway, promoted the genes expressing abnormally, and led to abnormal cell proliferation and the formation of RDC, which may play an important role in pathogenesis of RDC.
