【摘要】：人叉頭框-C2 (Forkhead Box C2 , FOXC2)是進(jìn)化上高度保守,具有DNA-結(jié)合域的翼狀螺旋轉(zhuǎn)錄因子超家族中的一員。該基因定位于16q22-16q24。Foxc2可以在小鼠心血管、軟骨組織、腎臟、主動脈弓及眼睛間質(zhì)等許多部位表達(dá),它在小鼠胚胎的發(fā)生和發(fā)育中所扮演的重要角色已經(jīng)得到證實。研究發(fā)現(xiàn),FOXC2轉(zhuǎn)錄因子和淋巴水腫-雙睫毛綜合征(Lymphoedema-Distichiasis LD)的發(fā)生有關(guān),這個綜合征的嚴(yán)重病例可以表現(xiàn)出法魯氏四聯(lián)癥、腭裂等心臟和中軸骨骼的發(fā)育缺陷。FOXC2基因某些堿基的單核苷酸多態(tài)性(SNP)還和肥胖、脂質(zhì)代謝和胰島素抵抗性有關(guān)。 本研究通過免疫組化和原位雜交等方法分析了FOXC2在人體胚胎心臟和中軸骨骼發(fā)生、發(fā)育過程中的作用,從而為進(jìn)一步了解該基因與先天性發(fā)育缺陷的關(guān)系奠定理論基礎(chǔ)。實驗結(jié)果表明,孕早期FOXC2廣泛分布在未來將發(fā)育成心血管系統(tǒng)、骨和軟骨、腎臟等結(jié)構(gòu)的中胚層。隨著胚胎的發(fā)育和分化,FOXC2的表達(dá)開始局限在心臟大血管以及脊柱和四肢的骨骼中。FOXC2表達(dá)還有一個從核內(nèi)到核外表達(dá)的變化過程。 我們的實驗結(jié)果提示,FOXC2轉(zhuǎn)錄因子在胚胎發(fā)育過程中對心臟主動脈改建、脊柱和肋骨的發(fā)育成形以及肢體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.
【學(xué)位授予單位】：吉林大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2006
【分類號】：R321

【參考文獻(xiàn)】

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1 付艷,鄧偉國,李玉林,三浦直行;叉頭框c2在中軸骨骼發(fā)育過程中的作用[J];中國病理生理雜志;2004年11期

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本文編號：2245793