Cao Jian, Chen Zhanzhao, Zhang Jianmin, Cao Liang, Li Shaobin
College of Bioengineering, Jiuquan Vocational and Technical University, Jiuquan 735000, China.
Gansu Key Laboratory of Herbivorous Animal Biotechnology, Faculty of Animal Science and Technology, Gansu Agricultural University, Lanzhou 730070, China.
Genes (Basel). 2025 Jun 19;16(6):721. doi: 10.3390/genes16060721.
Cashmere is one of the important economic products of goats, and the KRTAP gene family, as an important family of regulatory genes in the growth process of cashmere fiber, largely affects the quality of cashmere.
In this study, the gene was identified and located on goat chromosome 1 using a goat genome homology search combined with a phylogenetic tree approach. The Longdong cashmere goat gene variation and its effect on cashmere quality were explored by using the polymerase chain reaction single-stranded conformation polymorphism (PCR-SSCP) technique, in situ hybridization, and the allele presence/absence model.
The results identified a total of six SNPs in , three of which were located in the coding region and two of which were synonymous mutations, in addition to 45- bp deletion sequences detected in alleles C and F. Moreover, the mRNA showed a strong expression signal in the cortical layer of the primary and secondary follicles in the inner root sheaths, as well as in the cells of the hair papillae and the matrices during the anagen phase, and signaling at the sites described above is attenuated during the telogen phase. The presence of allele C was associated with increased MFD (mean fiber diameter) ( < 0.01). The MFD of goats with allele C genotype (genotype AC) was significantly higher ( < 0.05) than that of goats without allele C genotype (genotypes AA and AB).
This indicates that genetic variation in the gene in goats is significantly associated with cashmere traits and can serve as a candidate gene for molecular markers of cashmere traits.
羊绒是山羊重要的经济产品之一，而角蛋白关联蛋白（KRTAP）基因家族作为羊绒纤维生长过程中的重要调控基因家族，在很大程度上影响着羊绒品质。
在本研究中，通过山羊基因组同源性搜索结合系统发育树方法鉴定该基因并将其定位到山羊1号染色体上。利用聚合酶链反应单链构象多态性（PCR - SSCP）技术、原位杂交以及等位基因存在/缺失模型，探究陇东绒山羊该基因变异及其对羊绒品质的影响。
结果共鉴定出该基因的6个单核苷酸多态性（SNP）位点，其中3个位于编码区，2个为同义突变，此外在等位基因C和F中检测到45 bp的缺失序列。而且，该基因mRNA在内根鞘初级和次级毛囊的皮质层以及生长期毛乳头和毛基质细胞中显示出强烈的表达信号，而在休止期上述位点的信号减弱。等位基因C的存在与平均纤维直径（MFD）增加相关（P < 0.01）。具有等位基因C基因型（AC基因型）的山羊的MFD显著高于（P < 0.05）无等位基因C基因型（AA和AB基因型）的山羊。
这表明山羊该基因的遗传变异与羊绒性状显著相关，可作为羊绒性状分子标记的候选基因。
