Anadolu Mandalarının PPARGC1A geninin 8. eksonundaki polimorfizmlerin belirlenmesi

Amaç: PPARGC1A geni glikoz-yağ metabolizması ve enerji dengesinde önemli bir role sahiptir. Ayrıca, çiftlik hayvanlarında süt kalitesi ve süt veriminde aday gen olarak kullanabilmektedir. Bu amaçla, Anadolu Mandalarında PPARGC1A geninin 8. eksonundaki polimorfizmler araştırılmıştır. Gereç ve Yöntem: Araştırmada, Afyonkarahisar ilinde yetiştirilen ve "Anadolu Mandalarının Halk Elinde Islahı" projesi kapsamındaki 183 baş dişi malak incelenmiştir. PPARGC1A gen bölgesinin 8. eksonu ile 9. intronu arasındaki 739 bp büyüklüğündeki bölüm ABI 3500 DNA dizileme cihazı ile araştırılmıştır. İstatistik analizlerde GENETIX paket programı kullanılmıştır. Bulgular: PPARGC1A gen bölgesinin 8. eksonu ile 9. intronu arasındaki 739 bp büyüklüğündeki bölüm çoğaltılmış ve 8. eksonuna ait olan 526 bp lik kısmı değerlendirilmeye alınmıştır. Araştırmada, PPARGC1A geninin 8. eksonunda c.1598 A>T polimorfizmi gözlenmiştir. Yapılan Khi-kare (?2) analiz sonucunda popülasyonun HardyWeinberg dengesinde olmadığı, gözlenen ve beklenen değerler arasındaki fark istatistiki açıdan önemli bulunmuştur (PT polimorfizmi amino asit dizilimini etkilemektedir. Dolayısıyla, GAC kodonu Aspartik asiti (Asp), GTC kodonu ise Valin (Val) amino asidini kodladığı için proteinin yapısı ve fonksiyonunun değişebileceği düşünülmektedir. Bu nedenle, c.1598 A>T ve gendeki diğer SNP'lerin büyüme, laktasyonun başlaması ve sürdürülmesi, süt verimi, sütün kalitesi ve sütteki yağ miktarı üzerine etkisinin araştırılarak, sonuçların Anadolu Mandası ıslah çalışmalarında kullanılabileceği düşünülmektedir.

Determination of the polymorphisms in the 8. exon of PPARGC1A gene of Anatolian Water Buffaloes.

Aim: PPARGC1A gene has an important role in glucose-lipid metabolism and energy balance. Also, PPARGC1A gene can be used as a candidate gene at milk quality and production at livestock animal. Therefore, this research has been conducted to determine the polymorphisms on 8. exon of PPARGC1A in Anatolian water buffaloes.Materials and Methods: The total of 183 blood samples taken from Anatolian water buffaloes bred in Afyonkarahisar city and the Anatolian Water Buffaloes in the frame of reclamation project by Animal Breeders were used as a research material in this study. ABI 3500 genetic analyzer was used to investigate the region of 739 bp that from 8. exon to 9. intron of PPARGC1A gene. GENETIX computer program was used for statistics analyses.Results: In this study, an SNP located at the c.1599A>T on the 8. exon of PPARGC1A gene was found. The population showed disagreement with expected Hardy-Weinberg balance by Chi-square (χ2) analyses (P T polymorphism in exon 8 of PPARGC1A gene can affect the amino acid sequence. Thus, the structure and function of the protein would change the GAC codon encodes Aspartic acid (Asp) and the GTC codon encodes Valin (Val) amino acid. Therefore, determining the effects of c.1598 A>T and other SNPs in PPARGC1A gene on growth could have an effect on the initiation and maintenance of lactation, milk yield, quality of milk and milk fat in Anatolian Water Buffaloes

PDF

___

Boom R, Sol CJ, Salimans MM, Jansen CL,Wertheim-Van Dillen PM, Van Der Noordaa J, 1990. Rapid and simple method for purification of nucleic acids. J Clin Microbiol, 28, 495–503.
Çelikeloğlu K, Erdoğan M, Koçak S, Zemheri F, Tekerli M, 2015. The effect of environmental factors and Growth Hormone Receptor gene polymorphism on growth curve and live weight parameters in buffalo calves. Lalahan Hay Araşt Enst Derg, 55(2), 45–49.
Guillaume I, Walter W, Liliane M, 2006. Functions of the peroxisome proliferator-activated receptor (PPAR) α and β in skin homeostasis, epithelial repair, and morphogenesis. Journal of Investigative Dermatology Symposium Proceedings, 11 (1), 30–35.
Hall TA, 1999. BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser, 41, 95–98.
Handschin C, Spiegelman BM, 2006. Peroxisome proliferator-activated receptor gamma coactivator 1 coactivators, energy homeostasis, and metabolism. Endocr Rev, 27, 728–735.
Issemann I, Green S, 1990. Activation of a member of the steroid hormone receptor super family by peroxisome proliferators. Nature, 347(6294), 645–650.
Javed R, Gautam SK, Vijh And RK , Tantia MS, 2011. Six novel PCR- RFLP loci in milk quality candidate genes in Bubalus bubalis. International Journal of Livestock Production, 2(6), 79–83.
Jones DH, 1974. The mitochondria of the mammary parenchymal cell in relation to pregnancy-lactation cycle, in lactation: A comprehensive treatise, Ed; Larson BL, Smith VR, Volume 4, Academic Press, New York, USA, pp: 503–512.
Kalendar R, Lee D, Schulman AH, 2009. FastPCR software for PCR primer and probe design and repeat search. genes, Genomes and Genomics, 3(1), 1–14.
Khatib H, Zaitoun I, Wiebelhaus-Finger J, Chang YM, Rosa GJ, 2007. The association of bovine PPARGC1A and opn genes with milk composition in two independent Holstein cattle populations. Journal of Dairy Science, 90, 2966–2670.
Kliewer SA, Xu HE, Lambert MH, Willson TM, 2001. Peroxisome proliferator activated receptors: from genes to physiology. Recent Prog Horm Res, 56, 239–263.
Knutti D, Kralli A, 2001. PGC-l, a versatile coactivator. Trends Endocrinol Metab, 12, 360–365.
Komisarek J, Dorynek Z, 2009. Effect of ABCG2, PPARGC1A, OLR1 and SCD1 gene polymorphism on estimated breeding values for functional and production traits in Polish Holstein-Friesian bulls. J Appl Genet, 50(2), 125–132.
Kowalewska-Luczak I, Kulig H, Kmieae M, 2010. Associations between the bovine PPARGC1A gene and milk production traits. Czech J Anim Sci, 55, 195–199.
Kumar A, Kumar R, Beniwal V, Kala SN, Mishra A, Raut AA, Naik PK, Chhokar V, 2012. Molecular differentiation of peroxisome proliferator activated receptor coactivator-1 among different breeds of Bubalus bubalis. Bioinformation, 8(13), 600–606.
Kunej T, Globocnik Petrovıc M, Dovc P, Peterlin B, Petrovic D, 2004. A Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-g coactivator-1 (PGC-1) gene is associated with type 2 diabetes in Caucasians. Folia Biol, 50,157–158.
Kunej T, Wu XL, Berlic TM, Michal JJ, Jiang Z, Dovc P, 2005. Frequency distribution of a Cys430ser polymorphism in peroxisome proliferators-activated receptor gamma coactivator-1 (PPARGC1A) gene sequence in Chinese and Western pig breeds. J Anim Breed Genet, 122, 7–11.
Liang H, Ward WF, 2006. PGC-1 alpha: A key regulator of energy metabolism. Adv Physiol Educ, 30(4), 145–151.
Liu C, Lin JD, 2011. PGC-1 coactivators in the control of energy metabolism. Acta Biochim Biophys Sin, 43, 248–257.
Marx N, Duez H, Fruchart JC, Staels B, 2004. Peroxisome proliferator activated receptors and atherogenesis: regulators of gene expression in vascular cells. Circ Res, 94, 1168– 1178.
Muller YL, Bogardus C, Pedersen O, Baier L, 2003. A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor g coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians. Diabetes, 52, 895–898.
Nei M, 1972. Genetic distance between populations. Am Nat, 106, 283–292.
Puigserver P, Wu Z, Park CW, Graves R, Wright M, Spiegelman BM, 1998. A cold inducible coactivator of nuclear receptors linked to adaptive thermogenesis. Cell, 92, 829–839.
Schennink A, Bovenhuis H, Leon-Kloosterziel KM, Arendonk M, Visker W, 2009. Effect of polymorphisms in the FASN, OLR1, PPARGC1A, PRL and STAT5A genes on bovine milkfat composition. Anim Genet, 40, 909–916.
Soria LA, Corva PM, Branda Sica A, Villarreal EL, Melucci LM, Mezzadra CA, Papaleo Mazzucco J, Fernández Macedo G, Silvestro C, Schor A, Miquel MC, 2009. Association of a novel polymorphism in the bovine PPARGC1A gene with growth, slaughter and meat quality traits in Brangus steers. Mol Cell Probes, 23, 304–308.
Tekerli M, Altuntaş A, Birdane F, Sarımehmetoğlu O, Doğan İ, Bozkurt Z, Erdoğan M, Çelik HA, Koçak S, Gürler Z, Bülbül T, Kabu M, Çelikeloğlu K, 2016. Farklı bölge orijinli Anado lu Mandalarından oluşturulan bir sürüde verim özellikleri, beden ölçüleri ve biyokimyasal polimorfizm yönünden ıslah olanaklarının karşılaştırmalı belirlenmesi: Laktasyon özellikleri ve genetik polimorfizm. Lalahan Hay Araşt Enst Derg, 56 (1), 7–12.
Weikard R, Kühn C, Goldammer T, Freyer G, Schwerin M, 2005. The bovine PPARGC1A gene: Molecular characterization and association of an SNP with variation of milk fat synthesis. Physiological Genomics, 21, 1–13.
White SN, Casas E, Allan MF, Keele JW, Snelling WM, Wheeler TL, 2007. Evaluation in beef cattle of six deoxyribonucleic acid markers developed for dairy traits reveals an osteopontin polymorphism associates with post weaning growth. J Anim Sci, 85, 1–10.