叉头框-c2转录因子在人体胚胎的表达
发布时间：2018-09-17 11:42
【摘要】：人叉头框-C2 (Forkhead Box C2 , FOXC2)是进化上高度保守,具有DNA-结合域的翼状螺旋转录因子超家族中的一员。该基因定位于16q22-16q24。Foxc2可以在小鼠心血管、软骨组织、肾脏、主动脉弓及眼睛间质等许多部位表达,它在小鼠胚胎的发生和发育中所扮演的重要角色已经得到证实。研究发现,FOXC2转录因子和淋巴水肿-双睫毛综合征(Lymphoedema-Distichiasis LD)的发生有关,这个综合征的严重病例可以表现出法鲁氏四联症、腭裂等心脏和中轴骨骼的发育缺陷。FOXC2基因某些碱基的单核苷酸多态性(SNP)还和肥胖、脂质代谢和胰岛素抵抗性有关。 本研究通过免疫组化和原位杂交等方法分析了FOXC2在人体胚胎心脏和中轴骨骼发生、发育过程中的作用,从而为进一步了解该基因与先天性发育缺陷的关系奠定理论基础。实验结果表明,孕早期FOXC2广泛分布在未来将发育成心血管系统、骨和软骨、肾脏等结构的中胚层。随着胚胎的发育和分化,FOXC2的表达开始局限在心脏大血管以及脊柱和四肢的骨骼中。FOXC2表达还有一个从核内到核外表达的变化过程。 我们的实验结果提示,FOXC2转录因子在胚胎发育过程中对心脏主动脉改建、脊柱和肋骨的发育成形以及肢体骨骼的塑形具有不可替代的作用。
[Abstract]:Forkhead Box C2 (FOXC2) is a highly conserved, evolutionarily conserved member of the wing-shaped spiral transcription factor superfamily with DNA-binding domains. The gene is located between 16q22 and 16q24. Foxc2 can be expressed in many parts of the heart, cartilage, kidney, aortic arch and interstitium of the eye in mice. It is found in embryogenesis and development of mice. The important role of FOXC2 has been confirmed. Studies have shown that FOXC2 transcription factors are associated with the development of Lymphoedema-Distichiasis syndrome (LD), a serious case of which can show developmental defects in the heart and central skeleton such as tetralogy of Fallot, cleft palate, and so on. Glucoside polymorphism (SNP) is also associated with obesity, lipid metabolism and insulin resistance.
In this study, we analyzed the role of FOXC2 in the development of human embryonic heart and medial axis skeleton by immunohistochemistry and in situ hybridization, so as to lay a theoretical foundation for further understanding the relationship between FOXC2 and congenital developmental defects. With the development and differentiation of embryos, FOXC2 expression began to be confined to the heart vessels and the skeleton of spine and limbs. FOXC2 expression also had a change process from intranuclear to extranuclear.
Our results suggest that FOXC2 transcription factor plays an irreplaceable role in the remodeling of heart aorta, the development of spine and ribs, and the shaping of limb bones during embryonic development.
【学位授予单位】：吉林大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R321
本文编号：2245793
[Abstract]:Forkhead Box C2 (FOXC2) is a highly conserved, evolutionarily conserved member of the wing-shaped spiral transcription factor superfamily with DNA-binding domains. The gene is located between 16q22 and 16q24. Foxc2 can be expressed in many parts of the heart, cartilage, kidney, aortic arch and interstitium of the eye in mice. It is found in embryogenesis and development of mice. The important role of FOXC2 has been confirmed. Studies have shown that FOXC2 transcription factors are associated with the development of Lymphoedema-Distichiasis syndrome (LD), a serious case of which can show developmental defects in the heart and central skeleton such as tetralogy of Fallot, cleft palate, and so on. Glucoside polymorphism (SNP) is also associated with obesity, lipid metabolism and insulin resistance.
In this study, we analyzed the role of FOXC2 in the development of human embryonic heart and medial axis skeleton by immunohistochemistry and in situ hybridization, so as to lay a theoretical foundation for further understanding the relationship between FOXC2 and congenital developmental defects. With the development and differentiation of embryos, FOXC2 expression began to be confined to the heart vessels and the skeleton of spine and limbs. FOXC2 expression also had a change process from intranuclear to extranuclear.
Our results suggest that FOXC2 transcription factor plays an irreplaceable role in the remodeling of heart aorta, the development of spine and ribs, and the shaping of limb bones during embryonic development.
【学位授予单位】：吉林大学
【学位级别】：硕士
【学位授予年份】：2006
【分类号】：R321
【参考文献】
相关期刊论文 前1条
1 付艳,邓伟国,李玉林,三浦直行;叉头框c2在中轴骨骼发育过程中的作用[J];中国病理生理杂志;2004年11期
，本文编号：2245793
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