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Background The availability of the bovine genome sequence and SNP panels has improved various genomic analyses, from exploring genetic diversity to aiding genetic selection. However, few of the SNP on the bovine chips are polymorphic in buffalo, therefore a panel of single nucleotide DNA markers exclusive for buffalo was necessary for molecular genetic analyses and to develop genomic selection approaches for water buffalo. The creation of a 90K SNP panel for river buffalo and testing in a genome wide association study for milk production is described here. Methods The genomes of 73 buffaloes of 4 different breeds were sequenced and aligned against the bovine genome, which facilitated the identification of 22 million of sequence variants among the buffalo genomes. Based on frequencies of variants within and among buffalo breeds, and their distribution across the genome, inferred from the bovine genome sequence, 90,000 putative single nucleotide polymorphisms were selected to create an Axiom® Buffalo Genotyping Array 90K. Results This 90K “SNP-Chip” was tested in several river buffalo populations and found to have ∼70% high quality and polymorphic SNPs. Of the 90K SNPs about 24K were also found to be polymorphic in swamp buffalo. The SNP chip was used to investigate the structure of buffalo populations, and could distinguish buffalo from different farms. A Genome Wide Association Study identified genomic regions on 5 chromosomes putatively involved in milk production. Conclusion The 90K buffalo SNP chip described here is suitable for the analysis of the genomes of river buffalo breeds, and could be used for genetic diversity studies and potentially as a starting point for genome-assisted selection programmes. This SNP Chip could also be used to analyse swamp buffalo, but many loci are not informative and creation of a revised SNP set specific for swamp buffalo would be advised.

Beef tenderness, a complex trait affected by many factors, is economically important to beef quality, industry, and consumer?s palatability. In this study, RNA-Seq was used in network analysis to better understand the biological processes that lead to differences in beef tenderness. Skeletal muscle transcriptional profiles from 24 Nellore steers, selected by extreme estimated breeding values (EBVs) for shear force after 14 days of aging, were analyzed and 22 differentially expressed transcripts were identified. Among these were genes encoding ribosomal proteins, glutathione transporter ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), and synaptotagmin IV (SYT4). Complementary co-expression analyses using Partial Correlation with Information Theory (PCIT), Phenotypic Impact Factor (PIF) and the Regulatory Impact Factor (RIF) methods identified candidate regulators and related pathways. The PCIT analysis identified ubiquitin specific peptidase 2 (USP2), growth factor receptor-bound protein 10 (GBR10), anoctamin 1 (ANO1), and transmembrane BAX inhibitor motif containing 4 (TMBIM4) as the most differentially hubbed (DH) transcripts. The transcripts that had a significant correlation with USP2, GBR10, ANO1, and TMBIM4 enriched for proteasome KEGG pathway. RIF analysis identified microRNAs as candidate regulators of variation in tenderness, including bta-mir-133a-2 and bta-mir-22. Both microRNAs have target genes present in the calcium signaling pathway and apoptosis. PIF analysis identified myoglobin (MB), enolase 3 (ENO3), and carbonic anhydrase 3 (CA3) as potentially having fundamental roles in tenderness. Pathways identified in our study impacted in beef tenderness included: calcium signaling, apoptosis, and proteolysis. These findings underscore some of the complex molecular mechanisms that control beef tenderness in Nellore cattle. Made available in DSpace on 2019-02-20T00:35:57Z (GMT). No. of bitstreams: 1 8GeneCoexpressionAnalysis.pdf: 9628281 bytes, checksum: e29e4cd73ae532b854633fb4d1d788c8 (MD5) Previous issue date: 2019-02-19

The domestication of water buffalo likely took place between 4000 and 6000 years ago in the regions of Indus and Yangtze valleys. Domestic water buffalo comprises two subspecies that differ in a number of phenotypic traits, including morphology and behaviour, in geographic range and number of chromosomes. River buffalo has 50 chromosomes and is mainly reared in India, Southwest Asia and the Mediterranean region, including Italy, where the mozzarella di bufala campana cheese is produced from river buffalo milk contributing to the excellent reputation of the made in Italy brand worldwide. Swamp buffalo has 48 chromosomes and is mainly reared in Southeast Asia and China. The river buffalo genome has been recently sequenced and de-novo assembled, through the coordinated effort of an international Consortium led by a core group of Italian scientists. An associated HapMap project has sequenced 47 river buffaloes from 4 breeds at low coverage. As a result, more than 22M SNPs were discovered, permitting the development of the Axiom Buffalo Genotyping 90K (Affymetrix) marker panel. In this study, the SNP panel has been used to assess the main genetic parameters and genetic diversity of different water buffalo breeds sampled in Italy and elsewhere. Genotyping accuracy and main population genetic indexes have been compared between the 90K SNPs from the SNPchip and the 22M SNPs discovered by sequencing. Data were filtered for missing data, MAF ??? 0.05 and deviation from HW equilibrium. Sequence data was filtered for quality score and SNP coverage. Preliminary analyses indicate that genotypes from SNP arrays are better suited to diversity studies than low pass sequence by correctly detecting genotypes at SNP loci. Both sequence and SNP data indicate that expected heterozygosity values are quite variable among breeds. Sequence and SNP array data produced similar estimates of the Fst index (5.2% and 5.6% respectively), revealing that a moderate proportion of the total genetic diversity is explained by the between breed component. Principal Component Analysis showed a clear differentiation among breeds corresponding to geographic origin.

The objective of this study was to characterize variation and identify SNP and chromosomal regions associated with mineral concentrations in LM of Angus beef cattle. Samples of LM from 2,285 Angus cattle were obtained and concentrations of seven minerals including iron, magnesium, manganese, phosphorus, potassium, sodium, and zinc were quantified. Genomic DNA extracted from the ground beef sample used for mineral composition was genotyped with the Bovine SNP50 Infinium II BeadChip and effects of SNP on each trait were estimated using the Bayes-C�� module of GenSel software. Pedigree-based estimates of heritabilities and corresponding genetic variances indicate iron was the only mineral concentration, which could be considered a good candidate for manipulation by genomic selection. The amount of variation that could be accounted for by SNP genotypes was concordant with pedigree-based heritabilities and varied from very low for potassium and sodium (< 0.09) to medium-high (0.37) for iron. Though significant chromosomal regions were identified for all minerals analyzed in this study, further study focused on iron. Seven regions on six chromosomes (1, 2, 7, 10, 15 and 28) were identified to have major effect on iron content of LM in Angus cattle. The accuracy of direct genomic values (DGV) for iron concentration was estimated using a five-fold cross-validation strategy. The accuracy of DGV estimated as the genetic correlation between DGV and the phenotype (iron concentration) adjusted for contemporary groups was 0.59. A bivariate animal model was used to estimate genetic correlations between iron concentrations and a reduced set of economically important carcass traits: HCW, ribeye area, calculated USDA yield grade, percent KPH, and marbling score. The genetic correlations between iron concentration and HCW, percentage KPH, marbling score and ribeye area were small (-0.19 - 0.15) and non-significant. Although still weak (0.22), a positive significant genetic correlation was identified between iron content and USDA calculated yield grade. Beef is a major contributor of iron and zinc in the human diet, and this study found that iron content might be effectively manipulated through marker-assisted selection programs, without compromising other carcass and palatability traits.