CAJ | 학술논문

目的：分析候选基因Agouti的多态性，揭示染色体工程小鼠毛色差异的分子机制。方法首先，用测色仪检测小鼠的毛色差异。其次，利用DNA芯片进行全基因组扫描确定候选基因Agouti。最后，运用生物信息学软件分析Agouti基因cDNA序列和氨基酸序列的多态性，预测突变对蛋白结构和功能产生的影响。结果发现Agouti基因cDNA序列上存在5个SNPs，使Agouti信号蛋白产生了3个错义突变。生物信息学分析发现，其中一个错义突变使该蛋白丢失了一个β折叠，并且其三级结构发生改变，最终导致与受体结合的能力相较于野生型有所下降。结论在毛色基因Agouti的编码区发现了一个新的错义突变，该突变使Agouti信号蛋白与受体结合能力下降，最终导致小鼠的毛色由浅灰色变为深灰色。
목적：분석후선기인Agouti적다태성，게시염색체공정소서모색차이적분자궤제。방법수선，용측색의검측소서적모색차이。기차，이용DNA심편진행전기인조소묘학정후선기인Agouti。최후，운용생물신식학연건분석Agouti기인cDNA서렬화안기산서렬적다태성，예측돌변대단백결구화공능산생적영향。결과발현Agouti기인cDNA서렬상존재5개SNPs，사Agouti신호단백산생료3개착의돌변。생물신식학분석발현，기중일개착의돌변사해단백주실료일개β절첩，병차기삼급결구발생개변，최종도치여수체결합적능력상교우야생형유소하강。결론재모색기인Agouti적편마구발현료일개신적착의돌변，해돌변사Agouti신호단백여수체결합능력하강，최종도치소서적모색유천회색변위심회색。
Purpose Polymorphisms of candidate gene Agouti was analyzed in order to reveal the molecular mech -anisms of coat color difference in chromosome engineering mice .Methods Firstly, differences of mouse coat color was detected by color measurement spectrophotometer .Then, candidate gene Agouti was found by whole genome scanning based on DNA chip.Finally, cDNA and amino acid sequence polymorphisms were analyzed , as well as the influence of protein properties and function after mutation was predicted by bioinformatics software .Results There are five SNPs in the Agou-ti cDNA sequences , resulting in three missense mutations in the amino acid sequence of Agouti signaling protein .Bioinfor-matics analysis revealed that one βsheet deletion in the secondary structure of the mutant protein , as well as tertiary struc-ture changed , leading to decrease of binding ability .Conclusion A novel missense mutation is found in candidate Agouti gene.It plays critical role in receptor binding activity , and may reflect on mice coat color changing from light gray to dark gray eventually .