[Objective] The objectives of this study are to detect the single nucleotide polymorphism (SNP) of UCP1 gene in two fat-tailed sheep breeds, and to predict the protein structure and function caused by the mutations. [Method] PCR-SSCP combined with sequencing were used to detect the SNPs in coding region of UCP1 gene, and bioinformatics approach was used to predict the physicochemical properties and structures of UCP1 protein. [Result] Four SNPs existed in the coding region, with c.214G>A (Val72Met) and C.273C>T located on exon 2, C.624C>T and and C.757C>A (Ala253Thr) on exon 5. Further analysis indicated that the two mutations which caused amino acid substitution had little influence on the protein expression. This was because of the two mutations merely resulted in a slight change of the physicochemical properties and transcription factor binding site, but did not lead to the change of its spatial configuration. [Conclusion] Comparison of UCP1 protein structures between two exonic mutants, which associated respectively with human obesity and diabetes, and the normal structure suggested that the changes in UCP1 protein structure could influence the protein function.%[目的]检测两个绵羊群体中解偶联蛋白1(uncoupling protein 1,UCP1)基因的单核苷酸多态性(single nucleotide polymorphism,SNP),预测和分析碱基改变对蛋白结构和功能的影响.[方法]利用PCR-SSCP结合测序的方法检测UCP1基因编码区的SNPs,用生物信息学方法分析UCP1蛋白的理化性质和结构.[结果]UCP1基因编码区存在4个SNPs,其中c.214G＞A (Va172Met)和c.273C＞T位于外显子2,c.624C＞T和c.757G＞A(Ala253Thr)位于外显子5.进一步分析导致氨基酸改变的c.214G＞A和c.757 G＞A突变发现,此两个突变只对UCP1蛋白的理化性质和转录因子结合位点有细微改变,未引起UCP1蛋白空间构象的变化,对蛋白表达的影响不大.[结论]基于对人类中两个与肥胖相关的外显子突变型蛋白结构的比较说明,UCP1蛋白结构的改变可能影响其功能.
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