Kuswati Kuswati, Novianti Irida, Prafitri Rizki, Septian Wike Andre, Putri Rafika Febriani, Nugraha Chairdin Dwi, Furqon Ahmad
Department of Animal Science, Faculty of Animal Science, University of Brawijaya, Veteran Street, Malang City, Indonesia.
Research Center for Animal Husbandry, National Research and Innovation Agency, Republic of Indonesia, Bogor, Indonesia.
Vet World. 2025 Jul;18(7):2072-2077. doi: 10.14202/vetworld.2025.2072-2077. Epub 2025 Jul 27.
The () gene plays a pivotal role in regulating growth, metabolism, and fat deposition in cattle. Genetic polymorphisms in this gene can influence phenotypic traits and may serve as molecular markers for selection in breeding programs. However, comprehensive characterization of gene variants in local Indonesian breeds, such as Madura cattle, remains limited. This study aimed to identify novel single-nucleotide polymorphisms (SNPs) within exon 2 of the bovine gene and assess their association with growth traits in Madura cattle.
Forty-five Madura cows (aged 2-4 years) were phenotypically evaluated for body weight (BW), wither height (WH), body length (BL), chest girth (CG), hip height (HH), head length (HL), and head width (HW). Genomic DNA was extracted and subjected to polymerase chain reaction amplification followed by Sanger sequencing. Detected SNPs were analyzed for genotype and allele frequencies, Hardy-Weinberg equilibrium (HWE), and their associations with growth traits using a general linear model.
Three SNPs were identified in exon 2 of the gene: c.126T>C (synonymous), c.148T>C (missense), and a novel missense SNP c.149G>A, resulting in a cysteine to tyrosine substitution at amino acid position 50. The c.149G>A SNP showed polymorphism with three genotypes (GG, GA, AA), and the heterozygous GA genotype had the highest frequency (64.4%). This SNP deviated from HWE (p < 0.05), indicating potential selection pressure or population structure effects. While no statistically significant associations were found between genotypes and growth traits (p > 0.05), the AA genotype showed the highest mean values across most body measurements.
Although the novel c.149G>A SNP was not significantly associated with growth traits, its polymorphic nature and descriptive trait patterns suggest it may have biological relevance. Larger-scale studies are recommended to validate its utility as a genetic marker for growth and development in Madura cattle.
()基因在调节牛的生长、代谢和脂肪沉积方面起着关键作用。该基因的遗传多态性会影响表型性状,可作为育种计划中的选择分子标记。然而,对于印度尼西亚本地品种,如马都拉牛,该基因变体的全面表征仍然有限。本研究旨在鉴定牛()基因外显子2内的新型单核苷酸多态性(SNP),并评估它们与马都拉牛生长性状的关联。
对45头2至4岁的马都拉母牛进行了体重(BW)、体高(WH)、体长(BL)、胸围(CG)、臀高(HH)、头长(HL)和头宽(HW)的表型评估。提取基因组DNA,进行聚合酶链反应扩增,随后进行桑格测序。分析检测到的SNP的基因型和等位基因频率、哈迪 - 温伯格平衡(HWE),并使用一般线性模型分析它们与生长性状的关联。
在()基因外显子2中鉴定出三个SNP:c.126T>C(同义突变)、c.148T>C(错义突变)和一个新型错义SNP c.149G>A,导致第50位氨基酸处的半胱氨酸被酪氨酸取代。c.149G>A SNP表现出三种基因型(GG、GA、AA)的多态性,杂合子GA基因型频率最高(64.4%)。该SNP偏离哈迪 - 温伯格平衡(p < 0.05),表明存在潜在的选择压力或群体结构效应。虽然基因型与生长性状之间未发现统计学上的显著关联(p > 0.05),但AA基因型在大多数身体测量中的平均值最高。
尽管新型c.149G>A SNP与生长性状无显著关联,但其多态性性质和描述性性状模式表明它可能具有生物学相关性。建议进行更大规模的研究,以验证其作为马都拉牛生长发育遗传标记的效用。