目的应用Affymetrix SNP 6.0芯片技术筛选先天性小耳畸形的候选致病基因。方法对3例小耳畸形患者血液基因组进行Affymetrix SNP 6.0芯片分析,采用Birdseed软件分析样本的芯片数据,通过Minor Allele Frequency对在患者和汉族人参考样本...目的应用Affymetrix SNP 6.0芯片技术筛选先天性小耳畸形的候选致病基因。方法对3例小耳畸形患者血液基因组进行Affymetrix SNP 6.0芯片分析,采用Birdseed软件分析样本的芯片数据,通过Minor Allele Frequency对在患者和汉族人参考样本中有显著差异的单核苷酸多态性(SNP)进行筛选。结果得到SNP相关基因4 180个,根据已知文献收集和耳部发育相关并被SNP 6.0注释的基因共5个,包括MSX1,MSX2,GSC,HOXA2和PRKRA。结论应用Affymetrix SNP 6.0芯片技术筛选出5个先天性小耳畸形的候选致病基因,分别是MSX1,MSX2,GSC,HOXA2和PRKRA。展开更多
AIM： To evaluate the effect of MSX2 on gemcitabineinduced caspase-3 activation in pancreatic cancer cell line Panc-1. METHODS： Using V5-tagged MSX2 expression vector, stable transfectant of MSX2 was generated from P...AIM： To evaluate the effect of MSX2 on gemcitabineinduced caspase-3 activation in pancreatic cancer cell line Panc-1. METHODS： Using V5-tagged MSX2 expression vector, stable transfectant of MSX2 was generated from Panc-i cells （Px14 cells）. Cell viability under gemcitabine administration was determined by MTF assay relative to control cell line （empty-vector transfected Panc-1 cells; P-3EV cells）. Hoechst staining was used for the detection of apoptotic cell. Activation of caspase-3 was assessed using Western blotting analysis and direct measurement of caspase-3 specific activities. RESULTS： MSX2 overexpression in Panc-1 cells resulted in decreased gemcitabine-induced caspase-3 activation and increased cell viability under gemcitabine treatment in Px14 cells. CONCLUSION： MSX2 exerts repressive effects on gemcitabine-induced apoptotic pathway. This novel apoptosis-regulating function of MSX2 may provide a new therapeutic target for pancreatic cancer.展开更多
Background Neural tube defects are the most common human birth defects. The causes are multifactorial with complex genetic and environmental factors, although the exact genetic causes are unknown. This research was co...Background Neural tube defects are the most common human birth defects. The causes are multifactorial with complex genetic and environmental factors, although the exact genetic causes are unknown. This research was conducted to study the frequency of Msx2 gene polymorphisms in 59 women with a history of pregnancy with a neural tube defect and in 73 healthy controls. We aimed to determine the effect of this genetic polymorphism on the incidence of neural tube defects in the Han Chinese population.Methods We studied 59 mothers with at least one previous child with a neural tube defect （the case group） and 73case-control subjects during the same period, from Shanxi Province, China. We analyzed the genotypic distributions and allele frequencies of Msx2 C386T poiymorphisms in DNA samples from the case and control groups. A three-dimensional protein model was predicted using Swiss-Pdb Viewer software version 4.0. Disease association was analyzed using chi-square tests.Results Significant differences were observed in the genotypes and allele frequencies of the Msx2 C386T allele between the case and control groups （CT： 32% vs. 15%, P=0.0073 and TT 15% vs. 4%, P=0.013, respectively）. Logistic regression analysis showed that the C386T mutation is a potential risk factor for neural tube defects （P 〈0.05; OR： 3.466;95%CI： 1.831-6.560）. Three-dimensional structure prediction revealed that the Msx2 C386T mutation results in a threonine substitution for methionine at position 129 of exon 2, which might lead to structural mutations or dysfunctions in the protein encoded by Msx2.Conclusion Maternal Msx2 C386T gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province.展开更多
AIM: To investigate the effects of Msx2 on lens epithelium cell cycle, and evaluate the changes of the proliferation, apoptosis of lens epithelium cells. METHODS: Mice lens epithelium cells were cultured and transfect...AIM: To investigate the effects of Msx2 on lens epithelium cell cycle, and evaluate the changes of the proliferation, apoptosis of lens epithelium cells. METHODS: Mice lens epithelium cells were cultured and transfected with pEGFP-Msx2 and control. Msx2-deficient mice (Msx2(-/-)) lens tissue were isolated. Lens tissue and transfected cells were prepared for mRNA extraction using Trizol reagent. CyclinD1 and Prox1 expression were evaluated by real-time RT-PCR. BrdU incorporation and apoptosis rate were investigated by immunofluorescence and flow cytometry analysis. RESULTS: After transfected with pEGFP-Msx2, lens epithelium cells failed to incorporate BrdU and anti - phospho-histone-3 immunofluorescence failed to detect cell nuclei which GFP were positive. Msx2 over expression resulted in increasing apoptosis rate in lens epithelium cells. CyclinD1 and Prox1 expression increased significantly in Msx2 knockout mice by real time RT-PCR quantization and CyclinD1 expression decreased significantly in Msx2overexpressed cell. CONCLUSION: Msx2 has the effect of inhibiting proliferation and differentiation, triggering apoptosis on mice lens epithelium cells.展开更多
文摘目的应用Affymetrix SNP 6.0芯片技术筛选先天性小耳畸形的候选致病基因。方法对3例小耳畸形患者血液基因组进行Affymetrix SNP 6.0芯片分析,采用Birdseed软件分析样本的芯片数据,通过Minor Allele Frequency对在患者和汉族人参考样本中有显著差异的单核苷酸多态性(SNP)进行筛选。结果得到SNP相关基因4 180个,根据已知文献收集和耳部发育相关并被SNP 6.0注释的基因共5个,包括MSX1,MSX2,GSC,HOXA2和PRKRA。结论应用Affymetrix SNP 6.0芯片技术筛选出5个先天性小耳畸形的候选致病基因,分别是MSX1,MSX2,GSC,HOXA2和PRKRA。
基金Supported by the grant-in-aid from the Ministry of Education, Science, Sports and Culture in Japan, No. 14370172 and 15590615
文摘AIM： To evaluate the effect of MSX2 on gemcitabineinduced caspase-3 activation in pancreatic cancer cell line Panc-1. METHODS： Using V5-tagged MSX2 expression vector, stable transfectant of MSX2 was generated from Panc-i cells （Px14 cells）. Cell viability under gemcitabine administration was determined by MTF assay relative to control cell line （empty-vector transfected Panc-1 cells; P-3EV cells）. Hoechst staining was used for the detection of apoptotic cell. Activation of caspase-3 was assessed using Western blotting analysis and direct measurement of caspase-3 specific activities. RESULTS： MSX2 overexpression in Panc-1 cells resulted in decreased gemcitabine-induced caspase-3 activation and increased cell viability under gemcitabine treatment in Px14 cells. CONCLUSION： MSX2 exerts repressive effects on gemcitabine-induced apoptotic pathway. This novel apoptosis-regulating function of MSX2 may provide a new therapeutic target for pancreatic cancer.
基金This study was supported by the National Key Project of Scientific and Technical Supporting Programs funded by the Ministry of Science ＆ Technology of China （No. 2007BA107A02）, the National Basic Research Program of China （973 Program, No.2007CB511902）, Shanxi Scholarship Council of China （No.2008-48）, Major Program of Shanxi Natural Science Foundation of China （No. 2010011049-2） and the National Key Project of Scientific and Technical Supporting Programs funded by the Ministry of Science ＆ Technology of China （No. 31040056）.
文摘Background Neural tube defects are the most common human birth defects. The causes are multifactorial with complex genetic and environmental factors, although the exact genetic causes are unknown. This research was conducted to study the frequency of Msx2 gene polymorphisms in 59 women with a history of pregnancy with a neural tube defect and in 73 healthy controls. We aimed to determine the effect of this genetic polymorphism on the incidence of neural tube defects in the Han Chinese population.Methods We studied 59 mothers with at least one previous child with a neural tube defect （the case group） and 73case-control subjects during the same period, from Shanxi Province, China. We analyzed the genotypic distributions and allele frequencies of Msx2 C386T poiymorphisms in DNA samples from the case and control groups. A three-dimensional protein model was predicted using Swiss-Pdb Viewer software version 4.0. Disease association was analyzed using chi-square tests.Results Significant differences were observed in the genotypes and allele frequencies of the Msx2 C386T allele between the case and control groups （CT： 32% vs. 15%, P=0.0073 and TT 15% vs. 4%, P=0.013, respectively）. Logistic regression analysis showed that the C386T mutation is a potential risk factor for neural tube defects （P 〈0.05; OR： 3.466;95%CI： 1.831-6.560）. Three-dimensional structure prediction revealed that the Msx2 C386T mutation results in a threonine substitution for methionine at position 129 of exon 2, which might lead to structural mutations or dysfunctions in the protein encoded by Msx2.Conclusion Maternal Msx2 C386T gene polymorphisms were associated with fetal neural tube defects in Han Chinese women in Shanxi Province.
基金Science Foundation of Liaoning Province,China (No. 2011225014)
文摘AIM: To investigate the effects of Msx2 on lens epithelium cell cycle, and evaluate the changes of the proliferation, apoptosis of lens epithelium cells. METHODS: Mice lens epithelium cells were cultured and transfected with pEGFP-Msx2 and control. Msx2-deficient mice (Msx2(-/-)) lens tissue were isolated. Lens tissue and transfected cells were prepared for mRNA extraction using Trizol reagent. CyclinD1 and Prox1 expression were evaluated by real-time RT-PCR. BrdU incorporation and apoptosis rate were investigated by immunofluorescence and flow cytometry analysis. RESULTS: After transfected with pEGFP-Msx2, lens epithelium cells failed to incorporate BrdU and anti - phospho-histone-3 immunofluorescence failed to detect cell nuclei which GFP were positive. Msx2 over expression resulted in increasing apoptosis rate in lens epithelium cells. CyclinD1 and Prox1 expression increased significantly in Msx2 knockout mice by real time RT-PCR quantization and CyclinD1 expression decreased significantly in Msx2overexpressed cell. CONCLUSION: Msx2 has the effect of inhibiting proliferation and differentiation, triggering apoptosis on mice lens epithelium cells.
