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Identification of Single Nucleotide Polymorphism from Indian Bubalus bubalis through Targeted Sequence Capture


Affiliations
1 BRD School of Biosciences, Sardar Patel University, V. V. Nagar 388 120, India
2 Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India
3 Roche Diagnostics India Pvt Ltd, Kolkata 700 107, India
 

Bubalus bubalis (water buffalo) is an agro-economically important livestock species due to its multipurpose use in India and other Asian countries. The aim of this study was to identify single nucleotide polymorphisms (SNPs) from buffalo genome. Genomic DNA was isolated from 24 blood samples of three Indian buffalo breeds and subjected to targeted pyrosequencing, followed by variant calling and annotation. Target probes for enrichment were designed from exome and 5' and 3' untranslated regions of cattle genome. By targeted pyro-sequencing and variant calling from 3.92 Gb data, 923,964 high-quality SNPs were identified. Many SNPs were identified in regulatory regions, leading to conformational changes in factor-binding sites, which play a role in gene expression as in the case of LPL gene from low-milkproducing samples. Gene ontology (GO) enrichment and clustering, resulted in the enrichment of GO terms involved in milk production and transport, and fertility-related categories. Around 75% of SNPs were located on cattle quantitative trait loci, supporting trait-wise sample collection approach. Further, PCA analysis from the identified SNPs also supported sample selection strategy based on contrasting trait performance.

Keywords

Exome, Gene Ontology, Quantitative Trait Locus, Single Nucleotide Polymorphism.
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  • Kierstein, G., Vallinoto, M., Silva, A., Schneider, M. P., Iannuzzi, L. and Brenig, B., Analysis of mitochondrial D-loop region casts new light on domestic water buffalo (Bubalus bubalis) phylogeny. Mol. Phylogenet. Evol., 2004, 30, 308–324.
  • Annual Report, Department of Animal Husbandry, Dairying and Fisheries, 2015–16.
  • Dalton, R., No bull: genes for better milk. Nature, 2009, 457, 369.
  • Womack, J. E., Advances in livestock genomics: opening the barn door. Genome Res., 2005, 15, 1699–1705.
  • Cole, J. B. et al., Distribution and location of genetic effects for dairy traits. J. Dairy Sci., 2009, 92, 2931–2946.
  • Hirano, T. et al., Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome. PLOS ONE, 2013, 8, e64036.
  • Schmieder, R. and Edwards, R., Quality control and preprocessing of metagenomic datasets. Bioinformatics, 2011, 27, 863–864.
  • Li, H. and Durbin, R., Fast and accurate long-read alignment with Burrows–Wheeler transform. Bioinformatics, 2010, 26, 589–595.
  • Picard: Java-based command-line utilities that manipulate Sam files; http://broadinstitute.Github.lo/picard/
  • Li, H. et al., The sequence alignment/map format and samtools. Bioinformatics, 2009, 25, 2078–2079.
  • Danecek, P. et al., The variant call format and VCFtools. Bioinformatics, 2011, 27, 2156–2158.
  • Cingolani, P. et al., A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly, 2012, 6, 80–92.
  • Huang da, W., Sherman, B. T. and Lempicki, R. A., Systematic and integrative analysis of large gene lists using david bioinformatics resources. Nature Proto., 2009, 4, 44–57.
  • Szklarczyk, D. et al., The string database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Res., 2011, 39, D561–D568.
  • Sabarinathan, R., Tafer, H., Seemann, S. E., Hofacker, I. L., Stadler, P. F. and Gorodkin, J., The RNAsnp web server: predicting SNP effects on local RNA secondary structure. Nucleic Acids Res., 2013, 41, W475–W479.
  • Hu, Z.-L., Park, C. A., Wu, X.-L. and Reecy, J. M., Animal QTLdb: an improved database tool for livestock animal QTL/association data dissemination in the post-genome era. Nucleic Acids Res., 2013, 41, D871–D879.
  • Quinlan, A. R. and Hall, I. M., BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics, 2010, 26, 841–842.
  • Reynolds, J., Weir, B. S. and Cockerham, C. C., Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics, 1983, 105, 767–779.
  • Krzywinski, M. et al., Circos: an information aesthetic for comparative genomics. Genome Res., 2009, 19, 1639–1645.
  • Yang, W. C. et al., Polymorphisms in the 5 upstream region of the FSH receptor gene, and their association with superovulation traits in Chinese Holstein cows. Anim. Reprod. Sci., 2010, 119, 172–177.
  • Yang, J., Jiang, J., Liu, X., Wang, H., Guo, G., Zhang, Q. and Jiang, L., Differential expression of genes in milk of dairy cattle during lactation. Anim. Genet., 2015.
  • Elsik, C. G., Tellam, R. L. and Worley, K. C., The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science, 2009, 324, 522–528.
  • Jin, X. et al., An effort to use human-based exome capture methods to analyze chimpanzee and macaque exomes. PLOS ONE, 2012, 7, e40637.
  • Clark, M. J., Chen, R., Lam, H. Y., Karczewski, K. J., Euskirchen, G., Butte, A. J. and Snyder, M., Performance comparison of exome DNA sequencing technologies. Nature Biotechnol., 2011, 29, 908–914.
  • Guo, Y. et al., Exome sequencing generates high quality data in non-target regions. BMC Genomics, 2012, 13, 194.
  • Bainbridge, M. N. et al., Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol., 2011, 12, R68.
  • Cochran, S. D., Cole, J. B., Null, D. J. and Hansen, P. J., Discovery of single nucleotide polymorphisms in candidate genes associated with fertility and production traits in Holstein cattle. BMC Genet., 2013, 14, 49.
  • Khatib, H., Monson, R. L., Schutzkus, V., Kohl, D. M., Rosa, G. J. and Rutledge, J. J., Mutations in the STAT5A gene are associated with embryonic survival and milk composition in cattle. J. Dairy Sci., 2008, 91, 784–793.
  • Khatib, H., Maltecca, C., Monson, R. L., Schutzkus, V., Wang, X. and Rutledge, J. J., The fibroblast growth factor 2 gene is associated with embryonic mortality in cattle. J. Anim. Sci., 2008, 86, 2063–2067.
  • Wang, X., Schutzkus, V., Huang, W., Rosa, G. J. and Khatib, H., Analysis of segregation distortion and association of the bovine FGF2 with fertilization rate and early embryonic survival. Anim. Genet., 2009, 40, 722–728.
  • Driver, A. M., Huang, W., Gajic, S., Monson, R. L., Rosa, G. J. and Khatib, H., Short communication: effects of the progesterone receptor variants on fertility traits in cattle. J. Dairy Sci., 2009, 92, 4082–4085.
  • Nyegaard, M. et al., Lack of functional pregnancy-associated plasma protein – a (PAPPA) compromises mouse ovarian steroidogenesis and female fertility. Biol. Reprod., 2010, 82, 1129–1138.
  • Wickramasinghe, S., Rincon, G. and Medrano, J. F., Variants in the pregnancy-associated plasma protein-a2 gene on Bos taurus autosome 16 are associated with daughter calving ease and productive life in Holstein cattle. J. Dairy Sci., 2011, 94, 1552–1558.
  • Luna-Nevarez, P. et al., Single nucleotide polymorphisms in the growth hormone-insulin-like growth factor axis in straightbred and crossbred Angus, Brahman, and Romosinuano heifers: population, genetic analyses and association of genotypes with reproductive phenotypes. J. Anim. Sci., 2011, 89, 926–934.
  • Brickell, J. S., Pollott, G. E., Clempson, A. M., Otter, N. and Wathes, D. C., Polymorphisms in the bovine leptin gene associated with perinatal mortality in Holstein–Friesian heifers. J. Dairy Sci., 2010, 93, 340–347.
  • Liu, X., Robinson, G. W., Wagner, K.-U., Garrett, L., WynshawBoris, A. and Hennighausen, L., STAT5A is mandatory for adult mammary gland development and lactogenesis. Genes Dev., 1997, 11, 179–186.
  • Killeen, A. P., Morris, D. G., Kenny, D. A., Mullen, M. P., Diskin, M. G. and Waters, S. M., Global gene expression in endometrium of high and low fertility heifers during the mid-luteal phase of the estrous cycle. BMC Genomics, 2014, 15, 234.
  • Chalmel, F. et al., The conserved transcriptome in human and rodent male gametogenesis. Proc. Natl. Acad. Sci. USA, 2007, 104, 8346–8351.
  • Thomas, M., Enns, R., Shirley, K., Garcia, M., Garrett, A. and Silver, G., Associations of DNA polymorphisms in growth hormone and its transcriptional regulators with growth and carcass traits in two populations of Brangus bulls. Genet. Mol. Res., 2007, 6, 222–237.
  • Ferraz, J. et al., Association of single nucleotide polymorphisms with carcass traits in Nellore cattle. Genet. Mol. Res., 2009, 8, 1360–1366.
  • Nkrumah, J. D., Li, C., Yu, J., Hansen, C., Keisler, D. H. and Moore, S. S., Polymorphisms in the bovine leptin promoter associated with serum leptin concentration, growth, feed intake, feeding behavior, and measures of carcass merit. J. Anim. Sci., 2005, 83, 20–28.
  • Bionaz, M. and Loor, J. J., Gene networks driving bovine milk fat synthesis during the lactation cycle. BMC Genomics, 2008, 9, 366.
  • Bionaz, M. and Loor, J. J., ACSL1, AGPAT6, FABP3, LPIN1, and Slc27a6 are the most abundant isoforms in bovine mammary tissue and their expression is affected by stage of lactation. J. Nutr., 2008, 138, 1019–1024.
  • Pedersen, J. S., Forsberg, R., Meyer, I. M. and Hein, J., An evolutionary model for protein-coding regions with conserved RNA structure. Mol. Biol. Evol., 2004, 21, 1913–1922.
  • Tian, E. et al., Allelic mutations in noncoding genomic sequences construct novel transcription factor binding sites that promote gene overexpression. Genes, Chromosomes Cancer, 2015, 54, 692–701.
  • Yamazaki, J. et al., Tet2 mutations affect non-CPG island DNA methylation at enhancers and transcription factor binding sites in chronic myelomonocytic leukemia. Cancer Res., 2015.
  • Buratti, E. and Baralle, F. E., Influence of RNA secondary structure on the pre-mRNA splicing process. Mol. Cell. Biol., 2004, 24, 10505–10514.
  • Rudolph, M. C. et al., Metabolic regulation in the lactating mammary gland: a lipid synthesizing machine. Physiol. Genomics, 2007, 28, 323–336.
  • Ding, X. et al., A novel single nucleotide polymorphism in exon 7 of LPL gene and its association with carcass traits and visceral fat deposition in yak (Bos grunniens) steers. Mol. Biol. Rep., 2012, 39, 669–673.
  • Van Horn, C. G., Caviglia, J. M., Li, L. O., Wang, S., Granger, D. A. and Coleman, R. A., Characterization of recombinant longchain rat acyl-CoA synthetase isoforms 3 and 6: identification of a novel variant of isoform 6. Biochemistry, 2005, 44, 1635–1642.
  • Mashek, D. G. and Coleman, R. A., Cellular fatty acid uptake: the contribution of metabolism. Curr. Opin. Lipidol., 2006, 17, 274–278.
  • Mercade, A. et al., Characterization of the porcine acyl‐CoA synthetase long‐chain 4 gene and its association with growth and meat quality traits. Anim. Genet., 2006, 37, 219–224.
  • Schwehm, J. M., Kristyanne, E. S., Biggers, C. C. and Stites, W. E., Stability effects of increasing the hydrophobicity of solventexposed side chains in staphylococcal nuclease. Biochemistry, 1998, 37, 6939–6948.
  • Manjithaya, R. R. and Dighe, R. R., The 3' untranslated region of bovine follicle-stimulating hormone β messenger RNA downregulates reporter expression: involvement of Au-rich elements and transfactors. Biol. Reprod., 2004, 71, 1158–1166.
  • Rao, Y. S., Wang, Z. F., Chai, X. W., Nie, Q. H. and Zhang, X. Q., Relationship between 5 UTR length and gene expression pattern in chicken. Genetica, 2013, 141, 311–318.
  • Cohen-Zinder, M. et al., Identification of a missense mutation in the bovine ABCG2 gene with a major effect on the qtl on chromosome 6 affecting milk yield and composition in Holstein cattle. Genome Res., 2005, 15, 936–944.
  • Robenek, H. et al., Butyrophilin controls milk fat globule secretion. Proc. Natl. Acad. Sci. USA, 2006, 103, 10385–10390.
  • Gilchrist, E. J., Sidebottom, C. H., Koh, C. S., Macinnes, T., Sharpe, A. G. and Haughn, G. W., A mutant Brassica napus (canola) population for the identification of new genetic diversity via tilling and next generation sequencing. PLOS ONE, 2013, 8, e84303.
  • Pannier, L., Mullen, A. M., Hamill, R. M., Stapleton, P. C. and Sweeney, T., Association analysis of single nucleotide polymorphisms in DGAT1, TG and FABP4 genes and intramuscular fat in crossbred Bos taurus cattle. Meat Sci., 2010, 85, 515–518.
  • Macciotta, N. P. et al., Association between a polymorphism at the stearoyl CoA desaturase locus and milk production traits in Italian Holsteins. J. Dairy Sci., 2008, 91, 3184–3189.
  • Huang, W., Penagaricano, F., Ahmad, K. R., Lucey, J. A., Weigel, K. A. and Khatib, H., Association between milk protein gene variants and protein composition traits in dairy cattle. J. Dairy Sci., 2012, 95, 440–449.
  • Greene, E. A. et al., Spectrum of chemically induced mutations from a large-scale reverse-genetic screen in arabidopsis. Genetics, 2003, 164, 731–740.
  • Maningat, P. D. et al., Gene expression in the human mammary epithelium during lactation: the milk fat globule transcriptome. Physiol. Genomics, 2009, 37, 12–22.

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  • Identification of Single Nucleotide Polymorphism from Indian Bubalus bubalis through Targeted Sequence Capture

Abstract Views: 432  |  PDF Views: 138

Authors

A. B. Patel
BRD School of Biosciences, Sardar Patel University, V. V. Nagar 388 120, India
R. B. Subramanian
BRD School of Biosciences, Sardar Patel University, V. V. Nagar 388 120, India
H. Padh
BRD School of Biosciences, Sardar Patel University, V. V. Nagar 388 120, India
T. M. Shah
Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India
A. Mohapatra
Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India
B. Reddy
Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India
S. J. Jakhesara
Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India
P. G. Koringa
Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India
D. Dash
Roche Diagnostics India Pvt Ltd, Kolkata 700 107, India
C. G. Joshi
Department of Animal Biotechnology, College of Veterinary Science and Animal Husbandry, Anand Agricultural University, Anand 388 001, India

Abstract


Bubalus bubalis (water buffalo) is an agro-economically important livestock species due to its multipurpose use in India and other Asian countries. The aim of this study was to identify single nucleotide polymorphisms (SNPs) from buffalo genome. Genomic DNA was isolated from 24 blood samples of three Indian buffalo breeds and subjected to targeted pyrosequencing, followed by variant calling and annotation. Target probes for enrichment were designed from exome and 5' and 3' untranslated regions of cattle genome. By targeted pyro-sequencing and variant calling from 3.92 Gb data, 923,964 high-quality SNPs were identified. Many SNPs were identified in regulatory regions, leading to conformational changes in factor-binding sites, which play a role in gene expression as in the case of LPL gene from low-milkproducing samples. Gene ontology (GO) enrichment and clustering, resulted in the enrichment of GO terms involved in milk production and transport, and fertility-related categories. Around 75% of SNPs were located on cattle quantitative trait loci, supporting trait-wise sample collection approach. Further, PCA analysis from the identified SNPs also supported sample selection strategy based on contrasting trait performance.

Keywords


Exome, Gene Ontology, Quantitative Trait Locus, Single Nucleotide Polymorphism.

References





DOI: https://doi.org/10.18520/cs%2Fv112%2Fi06%2F1230-1239