Indian Journal of Animal Research 1474 RESEARCH ARTICLE Indian Journal of Animal Research, Volume 57 Issue 11: 1474-1479 (November 2023) Polymorphic Variants Analysis in Peroxisome Proliferator- Activated Receptor Gamma Coactivator 1-Alpha (PPARGC1A) Gene of Indian and Egyptian Buffaloes Sonia Sihag 1 , Hossam E. Rushdi 2 , Anil Kumar 1 , Alka Jangra 1 , Mohamed S. Hassanane 3 , Hamdy Abdel-Shafy 2 , Vinod Chhokar 1 10.18805/IJAR.B-5182 ABSTRACT Background: Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PPARGC1A) is a candidate gene for milk fat in livestock. The present study was carried out to investigate polymorphism in PPARGC1A and study its potential association. Methods: Two hundred forty animals from Murrah and Bhadawari Indian buffalo breeds and Egyptian buffaloes were selected. The statistical analysis used was Tukey’s honest significance test to investigate the association of different genotypes. The PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) assays and sequencing technologies were used to confirm the SNPs. Result: Three Novel single nucleotide polymorphisms (SNP1- g.993A>T, SNP2- g.1237T>A and SNP3-g.1238G>C) and one insertion (g.1240_>G bp) were identified in this gene. Due to nucleotide mutations, four non-synonymous mutations were observed in amino acid sequences of buffalo breeds. Significant differences in protein and SNF output were discovered in Egyptian buffalo breeds. In both Murrah and Bhadawari buffaloes, fat, protein and SNF yield were substantially correlated with detected genotypes while there was non-significant association of protein and SNF per cent in buffalo breeds. The information provided will be valuable in studying the involvement of PPARGC1A in regulating fat synthesis and enhancing milk quality in buffaloes. Key words: Bubalus bubalis, PCR-SSCP, PPARGC1A, SNPs. 1 Department of Bio and Nano Technology, Guru Jambheshwar University of Science and Technology, Hisar-125 001, Haryana, India. 2 Department of Animal Production, Faculty of Agriculture, Cairo University, Algammaa Street, 12613 Giza, Egypt. 3 Cell Biology Department, National Research Center, 12622 Dokki, Giza, Egypt. Corresponding Author: Vinod Chhokar, Department of Bio and Nano Technology, Guru Jambheshwar University of Science and Technology, Hisar-125 001, Haryana, India. Email: vinodchhokar@yahoo.com How to cite this article: Sihag, S., Rushdi, H.E., Kumar, A., Jangra, A., Hassanane, M.S., Abdel-Shafy, H. and Chhokar, V. (2023). Polymorphic Variants Analysis in Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Alpha (PPARGC1A) Gene of Indian and Egyptian Buffaloes. Indian Journal of Animal Research. 57(11): 1474-1479. doi: 10.18805/IJAR.B-5182. Submitted: 24-06-2023 Accepted: 27-07-2023 Online: 09-08-2023 INTRODUCTION Livestock farming, particularly buffalo farming in India and Egypt, is a crucial source of livelihood. Buffaloes are highly versatile animals, capable of producing milk, meat, fuel, draught power and manure, making them a valuable asset (Yang et al., 2022). They contribute approximately 13% of the global milk supply and buffalo milk is renowned for its superior processing qualities due to its higher protein and fat content compared to dairy cattle milk (Rehman et al., 2021 and Qiu et al., 2020). The quality and quantity of milk have long been recognized as vital attributes (Yang et al., 2022) and India should enhance the productivity of buffaloes since they are gradually replacing cattle in many regions that produce milk (Anil et al., 2012). Depending on genetic and environmental factors, different buffalo breeds may have variable milk fat percentages (Raut et al ., 2012). The objective of the present study was to identify SNPs in PPARGC1A gene that impact essential milk characteristics including the quantity and quality of fat and protein. PPARGC1A, also known as PGC1a, is a member of the PPAR family and plays a role in various tissues of buffalo. It is involved in milk fat production and acts as a transcriptional coactivator of the peroxisome proliferator- activated receptor (Chen et al., 2022). In different mammals, the PPARGC1A gene has been shown to regulate genes associated with fatty acid and glucose metabolism (Qiu et al., 2020). In buffalo, the PPARGC1A gene, located on chromosome 7’s centromere, is a potential candidate gene for a milk fat yield QTL on BTA6 (Weikard et al., 2005). Its molecular weight in buffalo is approximately 90.49 kDa (Hosseini et al., 2021). PPARGC1A has been identified as a crucial gene influencing milk-related traits in cattle and milk fat in buffalo (Pasandideh 2020). The SNPs identified in this gene have a significant impact on milk yield and can serve as potential markers for gene-assisted selection in buffaloes (Qiu et al ., 2020). Studies