Key Laboratory of Swine Genetics and Breeding, Ministry of Agriculture, College of Animal Science and Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.
J Anim Breed Genet. 2009 Aug;126(4):288-95. doi: 10.1111/j.1439-0388.2008.00740.x.
In this study, the molecular characterization and potential association of SLC39A7 gene with carcass traits were investigated in pigs. The sequence of SLC39A7 cDNA was obtained by in silico cloning and RT-polymerase chain reaction (PCR). Two transcripts, variant 1 (2398 bp) and variant 2 (2088 bp), of the SLC39A7 gene were identified. Expression analysis of SLC39A7 in 10 different tissues by RT-PCR showed that variant 1 was ubiquitously expressed in all tissues analysed, but variant 2 was not found in fat tissue. The cDNA regions of variant 1 and 2 were organized in seven and eight exons respectively. A c.205G>A substitution in exon 3, which changes a codon for glycine into a codon for arginine, (p.Gly69Arg) and a c.1138-216T>C substitution in intron 6 were detected by PCR-HpaII-restriction fragment length polymorphisms (RFLP) and PCR-cofI-RFLP respectively. Significant differences were found in the allele frequencies of c.205G>A among six Chinese indigenous pig breeds and two commercial pig breeds. Linkage analysis showed that the c.205G>A polymorphism within the SLC39A7 gene was closely linked to the marker Sw1856 on pig chromosome 7 in a Large White x Meishan F(2) resource population. The QTL and association studies between polymorphisms of the SLC39A7 gene and carcass traits were carried out. Significant associations of the SLC39A7 polymorphisms with backfat thickness at thorax-waist (p < 0.05), average backfat thickness (p < 0.05) and leaf fat weight (p < 0.01) were found. Additional F-drop test or marker assisted association analyses also supported the association of the mutation in SLC39A7 with the above traits. Together, the present study provided the useful information for the characterization of SLC39A7 gene and potential association with carcass traits in pigs.
本研究通过计算机克隆和 RT-PCR 获得了 SLC39A7 基因的 cDNA 序列。鉴定出 SLC39A7 基因的两种转录本,变体 1(2398 bp)和变体 2(2088 bp)。通过 RT-PCR 分析 SLC39A7 在 10 种不同组织中的表达,发现变体 1在所有分析的组织中广泛表达,但变体 2在脂肪组织中未发现。变体 1 和 2 的 cDNA 区分别由 7 个和 8 个外显子组成。通过 PCR-HpaII 限制性片段长度多态性(RFLP)和 PCR-cofI-RFLP 分别检测到外显子 3 中的 c.205G>A 取代,该取代将一个甘氨酸密码子变为一个精氨酸密码子(p.Gly69Arg)和内含子 6 中的 c.1138-216T>C 取代。在六个中国本土猪种和两个商业猪种中,发现 c.205G>A 的等位基因频率存在显著差异。连锁分析表明,在大白猪×梅山猪 F2 资源群体中,SLC39A7 基因内的 c.205G>A 多态性与猪 7 号染色体上的标记 Sw1856 紧密连锁。对 SLC39A7 基因多态性与胴体性状的 QTL 和关联研究表明,SLC39A7 多态性与胸腰背部背膘厚(p<0.05)、平均背膘厚(p<0.05)和叶脂重(p<0.01)显著相关。F-drop 测试或标记辅助关联分析也支持 SLC39A7 突变与上述性状的关联。综上所述,本研究为 SLC39A7 基因的特征分析及其与猪胴体性状的潜在关联提供了有用信息。