Effects of genetic polymorphism in Pit1, GH, GHR and KCN3 on milk yield and body weight of Khuzestan (Iran) water buffaloes

Abstract

Background: Genetic information is necessary to devise strategic plans aimed to improve the genetic merit of buffalos. Objective: To assess the effect of genetic polymorphisms in GH, Pit-1, GHR, GHRHR, and KCN3 genes on milk production and body weight of Khuzestan water buffaloes. Methods: Blood samples were collected from 60 buffaloes from the Khuzestan province, Iran. Using the PCR-RFLP technique, the amplified and digested fragments of GH/AluI, GHR/AluI, GHRHR/ HaeIII, Pit1/HinfI, and KCN3/HindIII were genotyped. Results: All animals were monomorphic for GHRHR. The frequency of mutant alleles for GH, GHR, KCN3, and Pit1 was 47.5, 74.2, 49.2, and 51.7%, respectively. There were significant differences (p<0.0001) in the genotypic frequencies of GH, GHR, and Pit1 between high and low milk-yielding buffaloes. The GH (p=0.0002), GHR (p<0.0001) and Pit1 (p<0.0001) polymorphisms also had significant effects on body weight. Sequencing results revealed the presence of C496A, G495A, G498A and C1501T SNPs in the GH, and G1702T in the GHR gene of Khuzestan buffalos. Conclusion: This study highlights the importance of GH, GHR, and Pit1 on milk production and body weight of Khuzestan buffaloes. The results suggest that devising an integrated breeding plan in Khuzestan water buffalos can considerably benefit from the very high diversity in candidate genes.Keywords: animal breeding, casein, genetic variation, growth hormone, milk production, SNP. ResumenAntecedentes: La información genética es necesaria para diseñar planes estratégicos con el objeto de mejorar el mérito genético de los búfalos. Objetivo: Evaluar el efecto de los polimorfismos genéticos en los genes GH, Pit-1, GHR, GHRHR y KCN3 sobre la producción láctea y peso corporal de búfalos de agua de la provincia de Juzestán, Iran. Métodos: Se recolectaron 60 muestras de sangre de búfalos de la provincia de Juzestán, en Irán. Los fragmentos amplificados y digeridos de GH/AluI, GHR/AluI, GHRHR/HaeIII, Pit1/HinfI y KCN3/HindIII fueron clasificados genotípicamente, utilizando la técnica PCR-RFLP. Resultados: Todos los animales fueron monomórficos para el gen GHRHR. La frecuencia alélica de alelos mutantes para los genes GH, GHR, KCN3 y Pit1 fue 47,5, 74,2, 49,2 y 51,7%, respectivamente. Se encontraron diferencias significativas (p<0,0001) en las frecuencias genotípicas de GH, GHR y Pit1 entre búfalos de alta y baja producción. El efecto del polimorfismo GH (p=0,0002), GHR (p<0,0001) y Pit1 (p<0,0001) también fue significativo para peso corporal. Los resultados de la secuenciación revelaron la presencia de SNPs C496A, G495A, G498A y C1501T en GH, y G1702T en el gen GHR. Conclusiones: Este estudio resalta la importancia de los genes GH, GHR y Pit1 sobre la producción de leche y el peso corporal de búfalos de Juzestán. Los resultados sugieren que la elaboración de un plan de cruzamiento integrado en búfalos de agua de Juzestán puede beneficiarse considerablemente de la gran diversidad de genes candidatos.Palabras clave: caseína, hormona del crecimiento, producción de leche, reproducción animal, SNP, variación genética. ResumoAntecedentes: Determinação informações genéticas é o passo crítico para elaborar planos estratégicos com o objetivo de melhorar o mérito genético dos búfalos. Objetivo: Avaliar o efeito de polimorfismos genéticos nos genes GH, Pit-1, GHR, GHRHR e KCN3 na produção de leite e no peso corporal dos búfalos de água do Cuzistão, Irã. Métodos: Amostras de sangue foram coletadas de 60 búfalos da província de Cuzistão, no Irã. Utilizando a técnica PCR-RFLP, os fragmentos amplificados e digeridos de GH/AluI, GHR/AluI, GHRHR/HaeIII, Pit1/HinfI e KCN3/HindIII foram genotipados. Resultados: Todos os animais eram monomórficos para o gene GHRHR. A freqüência alélica de alelos mutantes para os genes GH, GHR, KCN3 e Pit1 foi 47,5, 74,2, 49,2 e 51,7%, respectivamente. Uma diferença significativa (p<0,0001) foi encontrada nas freqüências genotípicas de os genes GH, GHR e Pit1 entre búfalos de alta e baixa produção. O efeito do polimorfismo GH (p=0,0002), GHR (p<0,0001) e Pit1 (p<0,0001) também foi significativo para o peso corporal. Os resultados da sequenciação revelaram a presença de SNPs C496A, G495A, G498A e C1501T no GH, e G1702T no gene GHR dos buffalos do Cuzistão. Conclusões: Este estudo destacou a importância da GH, GHR e Pit1 na produção de leite e no peso corporal de buffalos do Cuzistão. Os resultados sugerem que a elaboração de um plano de melhoramiento genético integrado em búfalos de água do Cuzistão pode beneficiar consideravelmente da grande diversidade de genes candidatos.Palavras-chave: caseína, hormônio do crescimento, produção de leite, reprodução animal, SNP, variação genética.

Identification of novel single nucleotide polymorphisms in the growth hormone ( GH ) gene in Anatolian water buffalo ( Bubalus bubalis ) populations in Turkey

“…They found that the meat yield trait since birth weight is related with the GHR genotypes in Anatolian water buffalo breed. Comparably with Özşensoy and Kara (2019), Ahmadzadeh et al (2019) determined three genotypes in both the GH and GHR genes, and a statistically significant effect on body weight in Iranian water buffalo breeds. In Table 4, it can be observed the relationships between the GH-MspI and GH-AluI polymorphisms and some economic traits in cattle and water buffalo.…”

“…Among the available genomic tools, the use of single-nucleotide polymorphism (SNP) markers is particularly effective for selecting traits measured in a single sex, such as milk yield and milk composition (Venturini et al, 2014). Several studies have examined buffaloes to identify SNP markers associated with milk components (Gil et al, 2013;Ahmadzadeh et al, 2019;Liu et al, 2018). One of the most important of this SNP marker is the growth hormone (GH) gene region.…”

Investigation of GH and GHRAlu I gene polymorphisms on meat yields in Anatolian water buffalo breed using PCR-RFLP method

“…All of these findings were statistically significant (P < 0.001), with the AG genotype being highest. In a study conducted on 60 Iranian water buffalo breeds, 3 genotypes were determined in both the GH and GHR genes, and a statistically significant effect on body weight was determined (Ahmadzadeh et al, 2019). The LL genotype of the GH gene was reported as a possibly species-related trait for water buffaloes (Mitra et al, 1995;Pal and Chatterjee, 2010;Jammeda and Vataliya, 2014).…”

Association between GH (g.1456_1457insT), GHRH (g.4474 C>A), and Pit-1 (g.244G>A) Polymorphisms and Lactation Traits in Holstein Friesian Cattle

“…Selection techniques at the DNA level and quantitative trait locus (QTL) can help to accelerate quantitative selections through the identification of major genes controlling the economic traits. Milk yield and its quality in dairy cattle are quantitative traits and controlled by many genes which are potentially influenced by the growth genes (Ahmadi et al, 2015;Ahmadzadeh et al, 2019;Bayram et al, 2017;Szatkowska et al, 2009).…”

“…The growth genes providing GH, GHRH, and Pit1 genes influence biological functions of the livestock, such as growth, development, proliferation of udder cells, and lactogenesis (Ahmadi et al, 2015;Ahmadzadeh et al, 2019;Bayram et al, 2017;Kiyici et al, 2019;Sami et al, 2011;Szatkowska et al, 2009). Bovine Growth Hormone Releasing Hormone (bGHRH) gene consists of five exons and four introns and locates in the chromosome number 13 (BTA-13).…”