1. bookVolume 20 (2020): Issue 2 (April 2020)
Journal Details
License
Format
Journal
eISSN
2300-8733
First Published
25 Nov 2011
Publication timeframe
4 times per year
Languages
English
access type Open Access

Polymorphisms in JAK2 Gene are Associated with Production Traits and Mastitis Resistance in Dairy Cattle

Published Online: 04 May 2020
Volume & Issue: Volume 20 (2020) - Issue 2 (April 2020)
Page range: 409 - 423
Received: 03 Apr 2019
Accepted: 07 Nov 2019
Journal Details
License
Format
Journal
eISSN
2300-8733
First Published
25 Nov 2011
Publication timeframe
4 times per year
Languages
English
Abstract

The present study was designed to investigate the effects of single nucleotide polymorphisms (SNPs) in the JAK2 gene on the production and mastitis related traits in dairy cattle. Blood and milk samples were collected from 201 lactating dairy cattle of three breeds, i.e. Holstein Friesian (HF), Jersey (J) and Achai (A) and their crosses maintained at well-established dairy farms in Khyber Pakhtunkhwa, Pakistan. Generalized linear model was used to evaluate the association between genotypes and the studied traits. A DNA pool was made from randomly selected 30 samples which revealed three SNPs, i.e. SNP 1 in 5’ upstream region (G>A, rs379754157), SNP 2 in intron 15 (A>G, rs134192265), and SNP 3 in exon 20 (A>G, rs110298451) that were further validated in the population under study using SNaPshot technique. Of the three SNPs, SNP 1 did not obey Hardy-Weinberg equilibrium (P<0.05). SNP 2 and SNP 3 were found to be in strong linkage disequilibrium and allele G was highly prevalent compared to allele A in these SNPs. in SNP 1, the GG genotype was associated with significantly (P<0.01) higher SCC, whereas SNP 2 and SNP 3 were significantly (P<0.01) associated with higher lactose percentage compared to the other geno-types. The haplogroups association analysis revealed that H1H2 (GG GG AG) has significantly lower SCC than H2H2 (GG GG GG). The results infer that JAK2 could be an important candidate gene and the studied SNPs might be useful genetic markers for production and mastitis related traits.

Keywords

Baxter E.J., Scott L.M., Campbell P.J., East C., Fourouclas N., Swanton S., Vas-siliou G.S., Bench A.J., Boyd E.M., Curtin N., Scott M.A. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet, 365: 1054–1061.Search in Google Scholar

Bole-Feysot C., Goffin V., Edery M., Binart N., Kelly P.A. (1998). Prolactin (PRL) and its receptor: actions, signal transduction pathways and phenotypes observed in PRL receptor knockout mice. Endocr. Rev., 19: 225–268.Search in Google Scholar

Brooks A.J., Dai W., O’Mara M.L., Abankwa D., Chhabra Y., Pelekanos R.A., Gar-don O., Tunny K.A., Blucher K.M., Morton C.J., Parker M.W. (2014). Mechanism of activation of protein kinase JAK2 by the growth hormone receptor. Science, 344: 1249783.Search in Google Scholar

Chen X., Chen X., Xu Y., Yang W., Wu N., Ye H., Yang J.Y., Hong Q., Xin Y., Yang M.Q., Deng Y. (2016). Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease. Hum. Genomics, 10: 21.Search in Google Scholar

Dayeh T.A., Olsson A.H., Volkov P., Almgren P., Rönn T., Ling C. (2013). Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets. Diabetologia, 56: 1036–1046.Search in Google Scholar

Deaton A.M., Bird A. (2011). CpG islands and the regulation of transcription. Genes Dev., 25: 1010–1022.Search in Google Scholar

Etherton T.D., Bauman D.E. (1998). Biology of somatotropin in growth and lactation of domestic animals. Physiol. Rev., 78: 745–761.Search in Google Scholar

Ferguson L.R., Han D.Y., Fraser A.G., Huebner C., Lam W.J., Morgan A.R., Duan H., Karunasinghe N. (2010). Genetic factors in chronic inflammation: single nucleotide polymorphisms in the STAT-JAK pathway, susceptibility to DNA damage and Crohn’s disease in a New Zealand population. Mutat. Res., 690: 108–115.Search in Google Scholar

Fonseca I., Silva P.V., Lange C.C., Guimarães M.F., Weller M.M.D.C.A., Sousa K.R.S., Lopes P.S., Guimarães J.D., Guimarães S.E. (2009). Expression profile of genes associated with mastitis in dairy cattle. Genet. Mol. Biol., 32: 776–781.Search in Google Scholar

Harlid S., Ivarsson M.I., Butt S., Hussain S., Grzybowska E., Eyfjörd J.E., Len-ner P., Försti A., Hemminki K., Manjer J., Dillner J. (2011). A candidate CpG SNP approach identifies a breast cancer associated ESR1-SNP. Int. J. Cancer, 129: 1689–1698.Search in Google Scholar

Huang Y., Tan H., Cao Q., Yuan G., Su G., Yang P. (2019). Different methylation of CpGSNPs in Behcet’s disease. Biomed. Res. Int., 2: 1–7.Search in Google Scholar

Jo B.S., Choi S.S. (2015). Introns: the functional benefits of introns in genomes. Genom. Inf., 13: 112–118.Search in Google Scholar

Khan A., Mushtaq M.H., Ahmad D., Ud M., Chaudhry M., Khan A.W. (2015). Prevalence of clinical mastitis in bovines in different climatic conditions in KPK (Pakistan). Sci. Int., 27: 2289–2293.Search in Google Scholar

Koestler D.C., Chalise P., Cicek M.S., Cunningham J.M., Armasu S., Larson M.C., Chien J., Block M., Kalli K.R., Sellers T.A., Fridley B.L (2014). Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer. BMC Med. Genomics, 7: 8.Search in Google Scholar

Li X., Park W.J., Pyeritz R.E., Jabs E.W. (1995). Effect on splicing of a silent FGFR2 mutation in Crouzon Syndrome. Nat. Genet., 9: 232–233.Search in Google Scholar

Mdegela R.H., Ryoba R., Karimuribo E.D., Phiri E.J., Løken T., Reksen O., Mten-geti E., Urio N.A. (2009). Prevalence of clinical and subclinical mastitis and quality of milk on smallholder dairy farms in Tanzania. J. S. Afr. Vet. Assoc., 80: 163–168.Search in Google Scholar

Millar D.S., Horan M., Chuzhanova N.A., Cooper D.N. (2010). Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene. Hum. Genom., 4: 289–301.Search in Google Scholar

Nackley A.G., Shabalina S.A., Tchivileva I.E., Satterfield K., Korchynskyi O., Makarov S.S., Maixner W., Diatchenko L. (2006). Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science, 314: 1930–1933.Search in Google Scholar

O’Shea J.J., Schwartz D.M., Villarino A.V., Gadina M., Mc Innes I.B., Lauren-ce A. (2015). The JAK-STAT pathway: impact on human disease and therapeutic intervention. Annu. Rev. Med., 66: 311–328.Search in Google Scholar

Pant S.D., Schenkel F.S., Leyva-Baca I., Sharma B.S., Karrow N.A. (2007). Identification of single nucleotide polymorphisms in bovine CARD15 and their associations with health and production traits in Canadian Holsteins. BMC Genomics, 8: 421.Search in Google Scholar

Parmley J.L., Hurst L.D. (2007). How do synonymous mutations affect fitness? Bioessays, 29: 515–519.10.1002/bies.2059217508390Search in Google Scholar

Patnaik S., Prasad A., Ganguly S. (2013). Mastitis, an infection of cattle udder: A review. J. Chem. Biol. Physical Sci., 3: 2676–2678.Search in Google Scholar

Richard I., Beckmann J.S. (1995). How neutral are synonymous codon mutations? Nat. Genet, 10: 259.Search in Google Scholar

Rupp R., Boichard D. (2003). Genetics of resistance to mastitis in dairy cattle. Vet. Res., 34: 671–688.Search in Google Scholar

Sauna Z.E., Kimchi-Sarfaty C. (2013). Synonymous mutations as a cause of human genetic disease. In: eLS, John Wiley & Sons, Ltd: Chichester. doi: 10.1002/9780470015902.a002517310.1002/9780470015902.a0025173Search in Google Scholar

Saxonov S., Berg P., Brutlag D.L. (2006). A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters. Proc. Natl. Acad. Sci. USA, 103: 1412–1417.Search in Google Scholar

Seegers H., Fourichon C., Beaudeau F. (2003). Production effects related to mastitis and mastitis economics in dairy cattle herds. Vet. Res., 34: 475–491.Search in Google Scholar

Shoemaker R., Deng J., Wang W., Zhang K. (2010). Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome. Genome Res., 20: 883–889.Search in Google Scholar

Sigl T., Meyer H.H.D., Wiedemann S. (2014). Gene expression analysis of protein synthesis pathways in bovine mammary epithelial cells purified from milk during lactation and short-term restricted feeding. J. Anim. Physiol. Anim. Nutr., 98: 84–95.Search in Google Scholar

Sordillo L.M., Streicher K.L. (2002). Mammary gland immunity and mastitis susceptibility. J. Mammary Gland Biol. Neoplasia, 7: 135–146.Search in Google Scholar

Szewczuk M. (2015). Association of a genetic marker at the bovine Janus kinase 2 locus (JAK2/RsaI) with milk production traits of four cattle breeds. J. Dairy Res., 82: 287–292.Search in Google Scholar

Usman T., Yu Y., Liu C., Wang X., Zhang Q., Wang Y. (2014). Genetic effects of single nucleotide polymorphisms in JAK2 and STAT5A genes on susceptibility of Chinese Holsteins to mastitis. Mol. Biol. Rep., 41: 8293–8301.Search in Google Scholar

Usman T., Wang Y., Liu C., Wang X., Zhang Y., Yu Y. (2015). Association study of single nucleotide polymorphisms in JAK2 and STAT5B genes and their differential mRNA expression with mastitis susceptibility in Chinese Holstein cattle. Anim. Genet., 46: 371–380.Search in Google Scholar

Vaz-Drago R., Custódio N., Carmo-Fonseca M. (2017). Deep intronic mutations and human disease. Hum. Genet., 136: 1093–1111.Search in Google Scholar

Villarino A.V., Kanno Y., Ferdinand J.R., O‘Shea J.J. (2015). Mechanisms of JAK/STAT signaling in immunity and disease. J. Immunol., 194: 21–27.Search in Google Scholar

Zhong Y., Wu J., Ma R., Cao H., Wang Z., Ding J., Cheng L., Feng J., Chen B. (2012). Association of Janus kinase 2 (JAK2) polymorphisms with acute leukemia susceptibility. Int. J. Lab. Hematol., 34: 248–253.Search in Google Scholar

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