Effects of SNP within Exon 7 of the Insulin-like Growth Factor Receptor Type 1 (IGF1R) Gene on Growth Traits in Angus Cows

İnsülin benzeri büyüme faktörü-1 reseptör (IGF1R) sinyal yolu, doğum sonrası büyüme ve gelişmede önemli bir rol oynar. IGF1R tirozin kinaz reseptörü, IGF1R'nin otofosforilasyonunu tetikleyen IGF-I tarafından aktive edilen homodimerleri ve sonrasında meydana gelen aşağı sinyal transdüksiyonu oluşturmaktadır. Bu çalışmanın amacı, sığır IGF1R geni içinde bulunan ekzon 7 içindeki sessiz SNP (rs41961336; CàT) ile büyüme özellikleri arasındaki ilişkinin tanımlanması, karakterize edilmesi ve incelenmesidir. Dört farklı ırktan toplam 672 adet inek polimeraz zincir reaksiyonu-restriksiyon parça uzunluk polimorfizmi (PCR-RFLP) metodu kullanılarak genotiplenmiştir. Çalışılan tüm ırklar (Polonya Holstein Friesian, Angus, Hereford, Limousine) içinde, her üç genotip varlığı sadece Angus ırkında gözlenmiştir. CC genotipi araştırılan tüm ırklarda en sık gözlenen genotip olmuş (0.7987-0.9904) ve bunu CT genotipi takip etmiştir (0.00960.1946). Sadece Angus inekleri ilişkilendirme analizleri için seçilmiştir. 210 günlük yaşa (WWT210) düzeltilmiş sütten kesim ağırlığında, CC genotipli dişi buzağıların, CT genotipli bireylerden istatistiki olarak daha ağır oldukları (+5.5 kg) bulunmuştur (P

İnsülin-benzeri Büyüme Faktörü Reseptör Tip 1 (IGF1R) Geninin Ekson 7 İçindeki Tek Nükleotid Polimorfizminin (SNP) Angus İneklerinin Büyüme Ölçütleri Üzerine Olan Etkileri

Insulin-like growth factor 1 receptor (IGF1R) signaling pathway plays a key role in the postnatal growth and development. The tyrosine kinase receptor IGF1R forms homodimers that is activated by IGF-I which trigger autophosphorylation of IGF1R and subsequent downstream signal transduction. The objectives of this study were to identify, characterize and the examination of the association between silent SNP (rs41961336; CàT) within exon 7 of bovine IGF1R gene and growth traits. A total of 672 cows of four breeds was genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. A TaiI restriction endonuclease was used. Among all breeds under study (Polish Holstein Friesian, Angus, Hereford, Limousine), the presence of all three genotypes was observed only for the Angus breed. The CC genotype was the most frequent in all investigated breeds (0.7987-0.9904) followed by CT (0.0096-0.1946). Only Angus cows were selected for association analysis. At weaning weight adjusted to 210 days of age (WWT210), statistically significant differences (P

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Blum J W, Elsasser T H, Greger D L, Wittenberg S, de Vries F & Distl O (2007). Insulin-like growth factor type-1 receptor down-regulation associated with dwarfism in Holstein calves. Domestic Animal Endocrinology 33: 245-268
Casas E, Shackelford S D, Keele J W, Koohmaraie M, Smith T P L & Stone R T (2003). Detection of quantitative trait loci for growth and carcass composition in cattle. Journal of Animal Science 81: 2976-2983
Casas E, Keele J W, Shackelford S D, Koohmaraie M T & Koohmaraie R T (2004). Stone identification of quantitative trait loci for growth and carcass composition in cattle. Animal Genetics 35: 2-6
Davis G P, Hetzel D J S, Corbet N J, Scacheri S, Lowden S, Renaud J, Mayne C, Stevenson R, Moore S S & Byrne K (1998). The mapping of QTL for birth weight in a tropical beef herd. Proceeding 6th World Congress on Genetics Applied to Livestock. Armidale NSW. Australia 26. pp. 441-444
Favelyukis S, Till J H, Hubbard S R & Miller W T (2001). Structure and autoregulation of the insulin-like growth factor 1 receptor kinase. Nature Structural Biology 8(12): 1058-1063
Fortes M R, Li Y, Collis E, Zhang Y & Hawken R J (2013). The IGF1 pathway genes and their association with age of puberty in cattle. Animal Genetics 44(1): 91-95
Humbel R E (1990). Insulin-like growth factors I and II. European Journal of Biochemistry 190: 445-462
Inagaki K, Tiulpakov A, Rubtsov P, Sverdlova P, Peterkova V, Yakar S, Terekhov S & LeRoith D (2007). A familial IGF-1 receptor mutant leads to short stature: Clinical and biochemical characterization. Journal of Clinical Endocrinology & Metabolism 92: 1542-1548
Keyhanfar M, Booker G W, Whittaker J, Wallace J C & Forbes B E (2007). Precise mapping of an IGF-I- binding site on the IGF-1R. Biochemical Journal 401: 269-277
Kim J J, Farnir F, Savell J & Taylor J F (2003). Detection of quantitative trait loci for growth and beef carcass fatness traits in a cross between Bos taurus (Angus) and Bos indicus (Brahman) cattle. Journal of Animal Science 81: 1933-1942
Le Roith D, Kavsan V M, Koval A P & Roberts C T Jr (1993). Phylogeny of the insulin-like growth factors (IGFs) and receptors: A molecular approach. Molecular Reproduction and Development 35: 332- 336
Liu J P, Baker J, Perkins A S, Robertson E J & Efstratiadis A (1993). Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 75: 59-72
Micke G C, Sullivan T M, McMillen I C, Gentili S & Perry V E A (2011). Protein intake during gestation affects postnatal bovine skeletal muscle growth and relative expression of IGF1, IGF1R, IGF2 and IGF2R. Molecular and Cellular Endocrinology 332: 234-241
Moody D E, Pomp D & Barendse W (1996). Linkage mapping of the bovine insulin-like growth factor-1 receptor gene. Mammalian Genome 7: 168-169
Morris C A, Cullen N G, Pitchford W S, Hickey S M, Hyndman D L, Crawford A M & Bottema C D K (2003). QTL for birth weight in Bos taurus cattle. Association for the Advancement of Animal Breeding and Genetics Proceedings 15: 400-403
NCBI (2015). Database of single nucleotide polymorphisms (SNPs) and multiple small-scale variations that include insertions/deletions, microsatellites, and non- polymorphic variants (dbSNP). Retrieved in Juni, 29, 2015 from http://www.ncbi.nlm.nih.gov/snp/
Plath-Gabler A, Gabler C, Sinowatz F, Beriska B & Schams D (2001). The expression of the IGF family and GH receptor in the bovine mammary gland. Journal of Endocrinology 168: 39-48
Sell C, Dumenil G, Deveaud C, Miura M, Coppola D, DeAngelis T, Rubin R, Efstratiadis A & Baserga R (1994). Effect of a null mutation of the insulin- like growth factor I receptor gene on growth and transformation of mouse embryo fibroblasts. Molecular and Cellular Biology 14: 3604-3612
Shi J, Luo L, Eash J, Ibebunjo C & Glass D J (2011). The SCF-Fbxo40 complex induces IRS1 ubiquitination in skeletal muscle, limiting IGF1 signaling. Developmental Cell 21: 835-847
Ullrich A, Gray A, Tam A W, Yang-Feng T, Tsubokawa
Szewczuk M, Zych S, Wójcik J & Czerniawska- Piatkowska E (2013). Association of two SNPs in the coding region of the insulin-like growth factor 1 receptor (IGF1R) gene with growth-related traits in Angus cattle. Journal of Applied Genetics 54: 305- 308
Teglund S, McKay C, Schuetz E, Van Deursen J, Stravopodis D, Wang D, Brown M, Bodner S, Grosveld G & Ihle J N (1998). Stat5a and Stat5b proteins have essential and non-essential, or redundant, roles in cytokine responses. Cell 93: 841-850
Udy G B, Towers R P, Snell R G, Wilkins R J, Park S H, Ram P A, Waxman D J & Davey H W (1997). Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expression. Proceedings of the National Academy of Sciences of the United States of America 94: 7239-7244 M, Collins C, Henzel W, Le Bon T, Kathuria S, Chen E, Jacobs S, Francke U, Ramachandran J & Fujita- Yamaguchi Y (1986). Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity. EMBO Journal 5: 2503-2512
Woelfle J, Chia D J & Rotwein P (2003). Mechanisms of growth hormone (GH) action. Identification of conserved Stat5 binding sites that mediate GH- induced insulin-like growth factor-I gene activation. Journal of Biological Chemistry 278: 51261-51266
Zhang R & Li X (2010). Association between IGF-IR, m-calpain and UCP-3 gene polymorphisms and growth traits in Nanyang cattle. Molecular Biology Reports 38(3): 2179-2184