BackgroundThe development of linkage disequilibrium (LD) maps and the characterization of haplotype block structure at the population level are useful parameters for guiding genome wide association (GWA) studies, and for understanding the nature of non-linear association between phenotypes and genes. The elucidation of haplotype block structure can reduce the information of several single nucleotide polymorphisms (SNP) into the information of a haplotype block, reducing the number of SNPs in a coherent way for consideration in GWA and genomic selection studies.ResultsThe maximum average LD, measured by r2 varied between 0.33 to 0.40 at a distance of < 2.5 kb, and the minimum average values of r2 varied between 0.05 to 0.07 at distances ranging from 400 to 500 kb, clearly showing that the average r2 reduced with the increase in SNP pair distances. The persistence of LD phase showed higher values at shorter genomic distances, decreasing with the increase in physical distance, varying from 0.96 at a distance of < 2.5 kb to 0.66 at a distance from 400 to 500 kb. A total of 78% of all SNPs were clustered into haplotype blocks, covering 1,57 Mb of the total autosomal genome size.ConclusionsThis study presented the first high density linkage disequilibrium map and haplotype block structure for a composite beef cattle population, and indicates that the high density SNP panel over 700 k can be used for genomic selection implementation and GWA studies for Canchim beef cattle.

BackgroundBeef cattle breeding programs in Brazil have placed greater emphasis on the genomic study of reproductive traits of males and females due to their economic importance. In this study, genome-wide associations were assessed for scrotal circumference at 210 d of age, scrotal circumference at 420 d of age, age at first calving, and age at second calving, in Canchim beef cattle. Data quality control was conducted resulting in 672,778 SNPs and 392 animals.ResultsAssociated SNPs were observed for scrotal circumference at 420 d of age (435 SNPs), followed by scrotal circumference at 210 d of age (12 SNPs), age at first calving (six SNPs), and age at second calving (four SNPs). We investigated whether significant SNPs were within genic or surrounding regions. Biological processes of genes were associated with immune system, multicellular organismal process, response to stimulus, apoptotic process, cellular component organization or biogenesis, biological adhesion, and reproduction.ConclusionsFew associations were observed for scrotal circumference at 210 d of age, age at first calving, and age at second calving, reinforcing their polygenic inheritance and the complexity of understanding the genetic architecture of reproductive traits. Finding many associations for scrotal circumference at 420 d of age in various regions of the Canchim genome also reveals the difficulty of targeting specific candidate genes that could act on fertility; nonetheless, the high linkage disequilibrium between loci herein estimated could aid to overcome this issue. Therefore, all relevant information about genomic regions influencing reproductive traits may contribute to target candidate genes for further investigation of causal mutations and aid in future genomic studies in Canchim cattle to improve the breeding program.Electronic supplementary materialThe online version of this article (doi:10.1186/s40104-017-0199-8) contains supplementary material, which is available to authorized users.

The aim of this study was to estimate genetic parameters for accumulated productivity (ACP), first calving interval (CI1), second calving interval (CI2), and mean calving interval (MCI) in Nelore beef cattle. The ACP trait is a reproduction index and comprises the total number of calves born per dam, weight of weaned calves, and age of the dam at calving. Genetic parameters were estimated by the average information restricted maximum likelihood method in two-trait analyses. The average heritability estimate for ACP was 0.17 (0.03). For CI1, CI2, and MCI, the heritability estimates were 0.02, 0.02, and 0.06, respectively. Genetic correlations between ACP with CI1, CI2, and MCI were -0.16 ± 0.47, -0.29 ± 0.53, and -0.40 ± 0.27, respectively. Despite of the low heritability estimates obtained in our study, reproduction traits should be further studied and their inclusion in the selection criteria must be evaluated in order to improve the performance of females because these traits are of great economic importance in beef cattle. Accumulated productivity could contribute to decrease the mean calving interval in Nelore cattle.

Beef cattle producers in Brazil use body weight traits as breeding program selection criteria due to their great economic importance. The objectives of this study were to evaluate different animal models, estimate genetic parameters, and define the most fitting model for Brahman cattle body weight standardized at 120 (BW120), 210 (BW210), 365 (BW365), 450 (BW450), and 550 (BW550) days of age. To estimate genetic parameters, single-, two-, and multi-trait analyses were performed using the animal model. The likelihood ratio test was verified between all models. For BW120 and BW210, additive direct genetic, maternal genetic, maternal permanent environment, and residual effects were considered, while for BW365 and BW450, additive direct genetic, maternal genetic, and residual effects were considered. Finally, for BW550, additive direct genetic and residual effects were considered. Estimates of direct heritability for BW120 were similar in all analyses; however, for the other traits, multi-trait analysis resulted in higher estimates. The maternal heritability and proportion of maternal permanent environmental variance to total variance were minimal in multi-trait analyses. Genetic, environmental, and phenotypic correlations were of high magnitude between all traits. Multi-trait analyses would aid in the parameter estimation for body weight at older ages because they are usually affected by a lower number of animals with phenotypic information due to culling and mortality.

The availability of dense genomic information has increased genome-wide association studies for the bovine species; however research to assess the effect of single genes on production traits is still important to elucidate the genes functions. On this study the association of IGF1, GH, and PIT1 markers with growth and reproductive traits (birth weight, weaning weight, weight at 12 and 18 months of age, preweaning average daily weight gain, age and weight at first calving, and scrotal circumference at 12 and 18 months of age) were assessed by means of the variance component approach. The phenotypes were adjusted and then analyzed under two animal models, one which considered the polygenic and genotype (IGF1, GH or PIT1 markers) effects (Model 1), and the other which considers only the polygenic effect (Model 2). When the likelihood ratio test and the Bonferroni correction was applied at 5 % significance level, the genetic markers for the IGF1, GH, and PIT1 genes did not influence significantly the traits (p > 0.002). However, evidence of association of IGF1 with birth weight (p = 0.06) and GH with weight at first calving (p = 0.03) and with weight at 12 months of age (p = 0.08) was observed. In conclusion we could not confirm the associations between IGF1, GH, and PIT1 and growth traits that were previously reported in Canchim cattle, and no association was observed between these genes and reproductive traits. Future studies involving functional markers of IGF1, GH and PIT1 genes may help to clarify the role of these genes in growth and reproductive processes.

a b s t r a c tThe aim of this study was to evaluate the allele substitution effects of IGF1, GH and PIT1 markers on the estimated breeding values (EBVs) for birth (BW) and weaning weights (WW), weight at 12 (W12) and 18 (W18) months of age, weight (WFC) and age (AFC) at first calving, and scrotal circumference measured at 12 (SC12) and 18 (SC18) months of age in Canchim beef cattle. Maternal effects were considered for birth (BW maternal ) and weaning (WW maternal ) weight. Regression analyses were carried out considering the EBVs, obtained from multi-trait analyses, and the deviations for each allele studied (four alleles for the IGF1 markers and two for GH and PIT1 markers, respectively). According to the results obtained for IGF1, the substitution effect of the "225" allele was significant (Pr 0.05) and presented higher EBVs for BW, BW maternal , WW, W12, W18, and SC18; and lower EBVs for WW maternal . The allele substitution effect observed for GH gene was significant (P r0.05) on EBVs for AFC and WFC. The "Valine" allele was responsible for lower EBVs for AFC and higher EBVs for WFC. For the PIT1 gene, the substitution effect of the "HinfÀ " allele was significant (Pr 0.05) on the EBVs for WW, WW maternal , AFC, and WFC, respectively. Important allele substitution effects were found for weight and reproduction traits in Canchim cattle. In general, markers on the IGF1 gene are related to higher EBVs for weight, while markers on the GH and PIT1 showed greater influence on the EBVs for age and weight at first calving. Adding molecular markers information on the selection process could result in increased genetic gains in Canchim cattle. Future studies using high-density genotyping platforms may contribute to our understanding of the effects of these genes on traits of economic importance in the Canchim breed. (D.P. Munari). Please cite this article as: Grossi, D.d.A., et al., Allele substitution effects of IGF1, GH and PIT1 markers on estimated breeding values for weight and reproduction traits in Canchim beef cattle. Livestock Science (2015), http://dx.