Genomic analysis of genotype-environment interaction in age at first calving of Murrah buffaloes.

Age at first calving (AFC) is a measure of sexual maturity associated with the start of productive life of dairy animals. Additionally, a lower AFC reduces the generation interval and early culling of females. However, AFC has low heritability, making it a trait highly influenced by environmental factors. In this scenario, one way to improve the reproductive performance of buffalo cows is to select robust animals according to estimated breeding value (EBV) using models that include genotype-environment interaction (GEI) with the application of reaction norm models (RNMs). This can be achieved by understanding the genomic basis related to GEI of AFC. Thus, in this study, we aimed to predict EBV considering GEI via the RNM and identify candidate genes related to this component in dairy buffaloes through genome-wide association studies (GWAS). We used 1795 AFC records from three Murrah buffalo herds and formed environmental gradients (EGs) from contemporary group solutions obtained from genetic analysis of 270-day cumulative milk yield. Heritability estimates ranged from 0.15 to 0.39 along the EG. GWAS of the RNM slope parameter identified important genomic regions. The genomic window that explained the highest percentage of genetic variance of the slope (0.67%) was located on BBU1. After functional analysis, five candidate genes were detected, involved in two biological processes. The results suggested the existence of a GEI for AFC in Murrah buffaloes, with reclassification of animals when different environmental conditions were considered. The inclusion of genomic information increased the accuracy of breeding values for the intercept and slope of the reaction norm. GWAS analysis suggested that important genes associated with the AFC reaction norm slope were possibly also involved in biological processes related to lipid metabolism and immunity.

Genetic parameters and genome-wide association studies for mozzarella and milk production traits, lactation length, and lactation persistency in Murrah buffaloes.

Genetic and genomic analyses of longitudinal traits related to milk production efficiency are paramount for optimizing water buffaloes breeding schemes. Therefore, this study aimed to (1) compare single-trait random regression models under a single-step genomic BLUP setting based on alternative covariance functions (i.e., Wood, Wilmink, and Ali and Schaeffer) to describe milk (MY), fat (FY), protein (PY), and mozzarella (MZY) yields, fat-to-protein ratio (FPR), somatic cell score (SCS), lactation length (LL), and lactation persistency (LP) in Murrah dairy buffaloes (Bubalus bubalis); (2) combine the best functions for each trait under a multiple-trait framework; (3) estimate time-dependent SNP effects for all the studied longitudinal traits; and (4) identify the most likely candidate genes associated with the traits. A total of 323,140 test-day records from the first lactation of 4,588 Murrah buffaloes were made available for the study. The model included the average curve of the population nested within herd-year-season of calving, systematic effects of number of milkings per day, and age at first calving as linear and quadratic covariates, and additive genetic, permanent environment, and residual as random effects. The Wood model had the best goodness of fit based on the deviance information criterion and posterior model probabilities for all traits. Moderate heritabilities were estimated over time for most traits (0.30 ± 0.02 for MY; 0.26 ± 0.03 for FY; 0.45 ± 0.04 for PY; 0.28 ± 0.05 for MZY; 0.13 ± 0.02 for FPR; and 0.15 ± 0.03 for SCS). The heritability estimates for LP ranged from 0.38 ± 0.02 to 0.65 ± 0.03 depending on the trait definition used. Similarly, heritabilities estimated for LL ranged from 0.10 ± 0.01 to 0.14 ± 0.03. The genetic correlation estimates across days in milk (DIM) for all traits ranged from -0.06 (186-215 DIM for MY-SCS) to 0.78 (66-95 DIM for PY-MZY). The SNP effects calculated for the random regression model coefficients were used to estimate the SNP effects throughout the lactation curve (from 5 to 305 d). Numerous relevant genomic regions and candidate genes were identified for all traits, confirming their polygenic nature. The candidate genes identified contribute to a better understanding of the genetic background of milk-related traits in Murrah buffaloes and reinforce the value of incorporating genomic information in their breeding programs.

Random regression models using B-splines functions provide more accurate genomic breeding values for milk yield and lactation persistence in Murrah buffaloes.

There is a great worldwide demand for cheese made with buffalo milk, due to its flavour and nutritional properties. In this context, there is a need for increasing the efficiency of buffalo milk production (including lactation persistence), which can be achieved through genomic selection. The most used methods for the genetic evaluation of longitudinal data, such as milk-related traits, are based on random regression models (RRM). The choice of the best covariance functions and polynomial order for modelling the random effects is an important step to properly fit RRM. To our best knowledge, there are no studies evaluating the impact of the order and covariance function (Legendre polynomials-LEG and B-splines-BSP) used to fit RRM for genomic prediction of breeding values in dairy buffaloes. Therefore, the main objectives of this study were to estimate variance components and evaluate the performance of LEG and BSP functions of different orders on the predictive ability of genomic breeding values for the first three lactations of milk yield (MY1, MY2, and MY3) and lactation persistence (LP1, LP2, and LP3) of Brazilian Murrah. Twenty-two models for each lactation were contrasted based on goodness of fit, genetic parameter estimates, and predictive ability. Overall, the models of higher orders of LEG or BSP had a better performance based on the deviance information criterion (DIC). The daily heritability estimates ranged from 0.01 to 0.30 for MY1, 0.08 to 0.42 for MY2, and from 0.05 to 0.47 for MY3. For lactation persistence (LP), the heritability estimates ranged from 0.09 to 0.32 for LP1, from 0.15 to 0.33 for LP2, and from 0.06 to 0.32 for LP3. In general, the curves plotted for variance components and heritability estimates based on BSP models presented lower oscillation along the lactation trajectory. Similar predictive ability was observed among the models. Considering a balance between the complexity of the model, goodness of fit, and credibility of the results, RRM using quadratic B-splines functions based on four or five segments to model the systematic, additive genetic, and permanent environment curves provide better fit with no significant differences between genetic variances estimates, heritabilities, and predictive ability for the genomic evaluation of dairy buffaloes.

Genetic parameters and association between longevity and milk production in buffaloes using the ssGBLUP method

The objectives of this work were to estimate the genetic parameters for the traits longevity (LG) and accumulated milk yield at 305 days (MY305) using a bitrait animal model and the single-step GBLUP method and estimate the genetic gain for LG through direct and indirect selection for MY305. We used 4,057 records of first lactations of Murrah dairy buffaloes, collected between 1987 and 2020, belonging to six Brazilian herds located in the states Ceará, Rio Grande do Norte, and São Paulo and 960 animals genotyped using the 90K Axiom Buffalo Genotyping (Thermo Fisher Scientific, Santa Clara, CA) to estimate the genetic parameters. The heritability estimate was 0.25 for MY305 and 0.13 for LG. The genetic gain for LG was 0.13 months under direct selection, and 0.14 months under indirect selection, which results in a relative selection efficiency of 11% under selection for MY305 compared with the direct selection. The genetic correlation between the two traits was 0.77, indicating that animals with genetic potential for high MY305 tend to live longer. The genetic trends for MY305 and LG were 0.22 kg/year and 5.20 days/year, respectively, indicating a positive response, which reaffirms its relationship with the high genetic correlation between the two traits.(AU)

Genomic study of the resilience of buffalo cows to a negative energy balance.

The research article was carried out with the objective of studying the genetic variation on the resilience of buffaloes to negative energy balance-NEB (measured by changes in body weight in early lactation)-as well as investigating genomic regions of interest for this trait. A model of reaction norms was used, considering milk production as the trait to be analyzed and solutions of the contemporary groups to weight changes as environmental gradient. In this methodology, the genetic value of the slope represents the measure of resilience of the animals. After the estimation step, a genome-wide association analysis was performed for the slope of the reaction norms model, to obtain a list of windows and associated genes. The heritability estimates for milk production over the resilience gradient ranged from 0.13 to 0.28, with lower values in the intermediate environmental groups. Regarding the productive resilience of dairy buffalo cows to NEB, the genomic windows with the highest contribution to the genetic variance were detected on chromosomes BBU 1, 2, 3, 4, 9, 12, 19, and 21. A functional analysis of the genes described in the selected windows indicated association with metabolic routes related to growth and immunity of the animals, with an emphasis on the STAT6 gene. The results presented indicate that there is for this trait genetic variation to be used as selection criteria, in addition to genomic regions that can increase the precision of the selection.

Genetics of tolerance to heat stress in milk yield of dairy buffaloes assessed by a reaction norm model.

The objectives of this study were to assess the effects of heat stress on the milk yield and investigate the presence of genotype × environment interaction (G × E) in Brazilian Murrah buffaloes reared under tropical conditions. With this, 58,070 test-day (TD) records for milk yield from 3,459 first lactations of buffaloes collected between 1987 and 2018 were evaluated. A mixed model considering days in milk (DIM) and temperature-humidity index (THI) was applied to quantify milk yield losses due to heat stress. The most detrimental effect of THI on TD milk yield was observed in the mid-stages of lactation, after lactation peak, in DIM 105-154 and 155-204 days (-0.020 and -0.015 kg/day per THI, respectively). The least-squares means of TD milk yield were used to identify a heat stress threshold using a piecewise linear regression model. A substantial reduction in TD milk yield due to heat stress was observed for THI values above 77.8 (-0.251 kg/day per increase of 1 THI unit). An analysis using a single-trait random regression animal model was carried out to estimate variance components and genetic parameters for TD milk yield over THI and DIM values. Increased additive genetic variance and heritability estimates were observed for extreme THI values (THI = 60 and 80) combined with mid-lactation stages. The lowest genetic correlation (0.50) was observed between TD records at opposite extremes of the THI scale (THI = 60 vs. THI = 80). The genetic trends observed for the regression coefficients related to the general level of production (0.02) and specific ability to respond to heat stress (-0.002) indicated that selection to increase milk yield did not affect the specific ability to respond to heat stress until the present moment. These trends reflect the low genetic correlation between these components (0.05 ± 0.14). In this sense, monitoring trends of genetic components related to response to heat stress is recommended.

Genomic studies of milk-related traits in water buffalo (Bubalus bubalis) based on single-step genomic best linear unbiased prediction and random regression models.

Genomic selection has been widely implemented in many livestock breeding programs, but it remains incipient in buffalo. Therefore, this study aimed to (1) estimate variance components incorporating genomic information in Murrah buffalo; (2) evaluate the performance of genomic prediction for milk-related traits using single- and multitrait random regression models (RRM) and the single-step genomic best linear unbiased prediction approach; and (3) estimate longitudinal SNP effects and candidate genes potentially associated with time-dependent variation in milk, fat, and protein yields, as well as somatic cell score (SCS) in multiple parities. The data used to estimate the genetic parameters consisted of a total of 323,140 test-day records. The average daily heritability estimates were moderate (0.35 ± 0.02 for milk yield, 0.22 ± 0.03 for fat yield, 0.42 ± 0.03 for protein yield, and 0.16 ± 0.03 for SCS). The highest heritability estimates, considering all traits studied, were observed between 20 and 280 d in milk (DIM). The genetic correlation estimates at different DIM among the evaluated traits ranged from -0.10 (156 to 185 DIM for SCS) to 0.61 (36 to 65 DIM for fat yield). In general, direct selection for any of the traits evaluated is expected to result in indirect genetic gains for milk yield, fat yield, and protein yield but also increase SCS at certain lactation stages, which is undesirable. The predicted RRM coefficients were used to derive the genomic estimated breeding values (GEBV) for each time point (from 5 to 305 DIM). In general, the tuning parameters evaluated when constructing the hybrid genomic relationship matrices had a small effect on the GEBV accuracy and a greater effect on the bias estimates. The SNP solutions were back-solved from the GEBV predicted from the Legendre random regression coefficients, which were then used to estimate the longitudinal SNP effects (from 5 to 305 DIM). The daily SNP effect for 3 different lactation stages were performed considering 3 different lactation stages for each trait and parity: from 5 to 70, from 71 to 150, and from 151 to 305 DIM. Important genomic regions related to the analyzed traits and parities that explain more than 0.50% of the total additive genetic variance were selected for further analyses of candidate genes. In general, similar potential candidate genes were found between traits, but our results suggest evidence of differential sets of candidate genes underlying the phenotypic expression of the traits across parities. These results contribute to a better understanding of the genetic architecture of milk production traits in dairy buffalo and reinforce the relevance of incorporating genomic information to genetically evaluate longitudinal traits in dairy buffalo. Furthermore, the candidate genes identified can be used as target genes in future functional genomics studies.

Water buffaloes (Bubalus bubalis) only have A2A2 genotype for beta-casein.

Beta-casein is a milk protein that has two variants: A1 and A2. Some individuals have difficulties digesting beta-casein A1, which can cause gastrointestinal disorders. A2 milk has emerged as an alternative. This milk only contains beta-casein A2 and is obtained from females carrying the A2A2 genotype of the gene. In cattle, allele and genotype frequencies vary according to breed and marker-assisted selection is performed to obtain A2A2 animals and the consequent production of A2 milk that is easier to digest. This study aimed to evaluate the alleles of beta-casein in buffaloes. A total of 657 buffaloes of four different breeds were genotyped and all animals carried the A2A2 genotype, i.e., allele A1 does not exist in the buffalo species. Thus, all milk products of buffaloes are naturally A2. This result adds value to products derived from buffalo milk.

Polymorphisms in TLR4 Gene Associated With Somatic Cell Score in Water Buffaloes (Bubalus bubalis).

Considering the importance of the diseases affecting the productive performance of animals in the dairy industry worldwide, it is necessary to implement tools that help to control and limit the occurrence of such diseases. As the increased somatic cell counts (SCC) are a direct expression of the inflammatory process, they are candidates to become the usual parameter for assessing udder health regarding milk quality and for monitoring mastitis incidences. Toll-Like Receptors are membrane proteins that play a key role in immunity, recognizing pathogens and, subsequently, activating immune responses. The present study was conducted to identify single nucleotide polymorphisms in the TLR4 gene of buffaloes and to analyze its associations with somatic cell counts. DNA samples of 120 Murrah buffaloes were used. The whole coding region of the TLR4 gene was amplified by polymerase chain reaction reactions and sequenced for polymorphism scanning. A total of 13 polymorphisms were identified for the sequenced regions of the TLR4, most of which are in the coding region. The association with the somatic cell score was highly significant (p < 0.001) for all identified polymorphisms of TLR4 gene (g.54621T>A, g.54429G>T, g.54407T>A, g.46616C>A, g.46613T>G, g.46612A>G, g.46611C>A, g.46609T>G, g.46541C>G, g.46526C>A, g.46516T>C, g.46376C>T, g.46372T>C). Therefore, it is suggested that the markers of the TLR4 gene can be used as molecular markers for mastitis resistance in buffaloes, due to their association with somatic cell counts.

Publisher Correction: Uncovering Sub-Structure and Genomic Profiles in Across-Countries Subpopulations of Angus Cattle.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Identification of genomic regions related to age at first calving and first calving interval in water buffalo using single-step GBLUP.

In Brazil, water buffaloes have been used to produce milk for mozzarella cheese production. Consequently, the main selection criterion applied for the buffalo genetic improvement is the estimated mozzarella yield as a function of milk, fat and protein production. However, given the importance of reproductive traits in production systems, this study aimed to use techniques for identifying genomic regions that affect the age at first calving (AFC) and first calving interval (FCI) in buffalo cows and to select candidate genes for the identification of QTL and gene expression studies. The single-step GBLUP method was used for the identification of genomic regions. Windows of 1 Mb containing single-nucleotide polymorphisms were constructed and the 10 windows that explained the greatest proportion of genetic variance were considered candidate regions for each trait. Genes present into the selected windows were identified using the UOA_WB_1 assembly as the reference, and their ontology was defined with the Panther tool. Candidate regions for both traits were identified on BBU 3, 12, 21 and 22; for AFC, candidates were detected on BBU 6, 7, 8, 9 and 15 and for first calving interval on BBU 4, 14 and 19. This study identified regions with great contribution to the additive genetic variance of age at first calving and first calving interval in the population of buffalo cows studied. The ROCK2, PMVK, ADCY2, MAP2K6, BMP10 and GFPT1 genes are main candidates for reproductive traits in water dairy buffaloes, and these results may have future applications in animal breeding programs or in gene expression studies of the species.

Analysis of the population structure of buffaloes in Brazil.

The aim of this study was to evaluate the population structure of Brazilian buffaloes using of pedigree information. The pedigree used in the analyses included records of 16,915 animals. The population parameters were obtained through the ENDOG software. The estimates of mean of inbreeding (F) and average relatedness (AR) coefficients were 3.22% and 5.99%, respectively. The average generation interval was 6.39 years. The effective number of founders and ancestors was 28 and 22, respectively. In this study, we concluded that the selection of individuals with lower AR is necessary to avoid an increase in matings between inbreeding individuals in this population, in order to obtain greater genetic gain by selection.

Uncovering Sub-Structure and Genomic Profiles in Across-Countries Subpopulations of Angus Cattle.

Highlighting genomic profiles for geographically distinct subpopulations of the same breed may provide insights into adaptation mechanisms to different environments, reveal genomic regions divergently selected, and offer initial guidance to joint genomic analysis. Here, we characterized similarities and differences between the genomic patterns of Angus subpopulations, born and raised in Canada (N = 382) and Brazil (N = 566). Furthermore, we systematically scanned for selection signatures based on the detection of autozygosity islands common between the two subpopulations, and signals of divergent selection, via FST and varLD tests. The principal component analysis revealed a sub-structure with a close connection between the two subpopulations. The averages of genomic relationships, inbreeding coefficients, and linkage disequilibrium at varying genomic distances were rather similar across them, suggesting non-accentuated differences in overall genomic diversity. Autozygosity islands revealed selection signatures common to both subpopulations at chromosomes 13 (63.77-65.25 Mb) and 14 (22.81-23.57 Mb), which are notably known regions affecting growth traits. Nevertheless, further autozygosity islands along with FST and varLD tests unravel particular sites with accentuated population subdivision at BTAs 7 and 18 overlapping with known QTL and candidate genes of reproductive performance, thermoregulation, and resistance to infectious diseases. Our findings indicate overall genomic similarity between Angus subpopulations, with noticeable signals of divergent selection in genomic regions associated with the adaptation in different environments.

Short communication: Characterization of the milk protein expression profiles in dairy buffaloes with and without subclinical mastitis.

The aim of this study was to characterize the proteins present in milk whey from buffaloes with and without subclinical mastitis using a proteomic approach to identify differentially expressed proteins as potential biomarkers for this disease. Whey from Murrah buffaloes with subclinical mastitis was compared with whey from healthy animals using liquid chromatography-tandem mass spectrometry. The annotated protein databases for Bubalus bubalis and Bos taurus were used in the analysis, and the gene annotations from the buffalo and bovine reference assemblies were also used. After integrating gene annotations from both buffaloes and bovines, a total of 1,033 proteins were identified, of which 156 were differentially expressed. Eighteen biological processes were annotated with Gene Ontology. Cathelicidin-3 was identified as a potential biomarker for subclinical mastitis. These results are important to the characterization of mastitis in the buffalo mammary gland and may aid in the development of tools for early diagnosis.

Genome-wide association study applied to type traits related to milk yield in water buffaloes (Bubalus bubalis).

This research aimed to estimate genetic parameters for milk yield and type traits [withers height (WH), croup height (CH), body length (BL), croup length (CL), iliac width (ILW), ischial width (ISW), and thoracic circumference] in Murrah buffaloes and to identify genomic regions related to type traits by applying a single-step genome-wide association study. Data used to estimate the genetic parameters consisted of 601 records of milk yield in the first lactation and the aforementioned type traits. For the single-step genome-wide association study, 322 samples genotyped with a 90K Axiom Buffalo Genotyping array (Thermo Fisher Scientific, Santa Clara, CA) were used. Bivariate analysis revealed that heritability for milk yield (kg) at 305 d was 0.31 ± 0.11, whereas it ranged from 0.22 ± 0.07 to 0.34 ± 0.09 for the studied conformation traits. Based on the percentages of genetic variance explained by windows of 10 markers, there were 16 genomic regions explaining more than 0.5% of the variance for WH, CH, BL, CL, ILW, ISW, and thoracic circumference. Between those regions, 4 were associated with more than 1 trait, suggesting pleiotropic roles for some genes of Bos taurus autosome (BTA) 12 on CL and WH, BTA13 on ISW and ILW, BTA23 on CH and BL, and BTA28 on ISW and BL. Most of these regions coincide with known quantitative trait loci for milk traits. Thus, further studies based on sequence data will help to validate the association of this region with type traits and likely identify the causal mutations.

Genome-wide association studies for growth traits in buffaloes using the single step genomic BLUP.

Growth traits are important for the profitability of buffalo breeding systems, since in general, these animals are raised both for meat and milk. In this study, the single-step genomic BLUP method was employed to prospect the genomic regions' associated with weight at standard ages of 100, 210, 365, and 550 days in a buffalo population, aiming to identify genes with stronger expression for those characteristics. We found 6, 1, 2, and 5 SNPs significantly associated (p value < 10-5) with weight at 100, 210, 365, and 550 days of age, respectively, where those SNPs respectively explained 0.164, 0.040, 0.044, and 0.213% of the additive variance of each trait. SNP AX-85099682 (BBU24) was significant for weight at 100, 210, and 365 days, indicating the existence of a possible QTL affecting the initial growth rate of buffaloes. All told, eight genes (CBLB, TRNAG-UCC, GADD45B, LOC112583811, MGAT4C, KCNMA1, SLC5A2, and TGFB1I1) were identified as candidates for the growth traits of buffaloes. However, molecular and gene expression studies are necessary to validate these genes for subsequent use in programs for genetic improvement of the species.

Polymorphisms in major histocompatibility complex genes and its associations with milk quality in Murrah buffaloes.

Animal breeding programs have used molecular genetic tools as an auxiliary method to identify and select animals with superior genetic merit for milk production and milk quality traits as well as disease resistance. Genes of the major histocompatibility complex (MHC) are important molecular markers for disease resistance that could be applied for genetic selection. The aim of this study was to identify single nucleotide polymorphisms (SNPs) and haplotypes in DRB2, DRB3, DMA, and DMB genes in Murrah breed and to analyze the association between molecular markers and milk, fat, protein and mozzarella production, fat and protein percentage, and somatic cell count. Two hundred DNA samples from Murrah buffaloes were used. The target regions of candidate genes were amplified by polymerase chain reaction (PCR) followed by sequencing and identification of polymorphisms. Allele and genotype frequencies, as well as linkage disequilibrium between SNPs, were calculated. Genotypes were used in association analyses with milk production and quality traits. Except for the DMA gene, identified as monomorphic, the other genes presented several polymorphisms. The DMB, DRB2, and DRB3 genes presented two, six, and seven SNPs, respectively. Fifty-seven haplotype blocks were constructed from 15 SNPs identified, which was used in association analyses. All the studied traits had at least one associated haplotype. In conclusion, it is suggested that the haplotypes found herein can be associated with important traits related to milk production and quality.

Genetic parameters for tonic immobility, body weight, and morphological traits of the red-winged tinamou (Rhynchotus rufescens).

This study was carried out to estimate genetic parameters for morphology, body weight, and tonic immobility traits in the red-winged tinamou (Rhynchotus rufescens). Information on 690 birds was used and genetic parameters were estimated using Bayesian methods under a multi-trait animal model. The following traits were considered in this study: tarsal length (TL), bill length (BL), wing length (WL), head width (HW), bill width (BW), mature weight (MW), weight at 90 days (W90), and tonic immobility (TI). The heritability showed estimates between 0.15 for wing length and 0.56 for bill length. Positive and negative genetic correlations were estimated, ranging from - 0.33 to 0.81. All the morphological, production, and behavioral traits studied will have moderate to high response to selection. The body weight at 90 days is a better alternative for use in breeding programs and its selection would not lead to an increase in the time of tonic immobility. Both the selection for weight gain and for reduction of tonic immobility time would lead to an increase in the size of the legs of the red-winged tinamou, which could be advantageous for thermal control of these birds in tropical systems.

AMH Polymorphisms and their association with traits indicative of sexual precocity in nelore heifers / Polimorfismos do AMH e suas associações com características indicadoras de precocidade sexual em novilhas nelore

Anti-Müllerian Hormone (AMH) is a protein expressed in the gonads and related to ovarian follicular development. The aim of this study was to investigate the presence of polymorphisms in the AMH gene in a Nelore herd to analyze the genetic constitution of this population and to perform association studies with early pregnancy occurrence (EPO) and age at first calving (AFC). Phenotypic data consisted of verification of early pregnancy and age at first calving of 197 unrelated heifers exposed to the mating season and aged between 15 and 17 months (precocious group) and 24 months (non-precocious group). The “precocious” group consisted of 67 heifers with age at first calving of 26.5 ± 0.59 months, and the “non-precocious” group was composed of 130 heifers with age at first calving of 36.4 ± 0.99 months. All five exons of the AMH gene were amplified by Polymerase Chain Reaction (PCR) and sequenced. A total of three SNPs were identified in this study, all of them located in exon 5 (rs527023314, rs722016629, and rs134387246), the latter one positioned in the stop codon. All three SNPs identified in exon 5 characterized synonymous mutations. Only SNP rs134387246 exhibited a significant value (P ≤ 0.10) for EPO and AFC. The association study of SNP rs134387246 revealed an over-dominance effect (P = 0.056), and no additive effect was observed (P = 0.67). A reduction of 2.5 months (75 days) in the age at first calving of heterozygous heifers for the SNP rs134387246 was observed. For the first time, polymorphisms of the AMH gene were described in Nelore heifers and associated with sexual precocity traits.

O hormônio Anti-Mülleriano (AMH) é uma proteína expressa nas gônadas e está relacionada ao desenvolvimento folicular ovariano. O objetivo desse trabalho foi investigar a presença de polimorfismos do gene AMH em um rebanho Nelore, analisar a constituição genética da população para o gene e estudar a associação entre os polimorfismos e as características ocorrência de prenhez precoce (OPP) e idade ao primeiro parto (IPP). Os dados fenotípicos consistiram da verificação da prenhez precoce e idade ao primeiro parto de 197 novilhas, não aparentadas, expostas à estação de monta com idade entre 15 e 17 meses (grupo precoce) ou 24 meses (grupo não precoce). O grupo denominado “precoce” foi composto por 67 novilhas com idade ao primeiro parto de 26.5±0.59 meses, e o segundo denominado “não precoce” composto por 130 novilhas com idade ao primeiro parto de 36.4±0.99 meses. Os cinco éxons do gene AMH foram amplificados por meio da técnica de Reação em Cadeia da Polimerase (PCR) e sequenciados. Um total de três SNPs foram identificados nesse estudo, todos localizados no éxon 5 (rs527023314, rs722016629 and rs134387246), sendo o último posicionado stop codon. Os três SNPs identificados caracterizaram mutações sinônimas. Somente o SNP rs134387246 exibiu associação significante (P ≤ 0.10) para ambas características (OPP e IPP). O estudo de associação do SNP rs134387246 revelou um efeito de sobre dominância (P=0,056), e ausência de ação gênica aditiva (P=0,67). Foi observada redução de 2,5 meses (75 dias) na idade ao primeiro parto de novilhas heterozigotas para o SNP rs134387246. Pela primeira vez na literatura, polimorfismos do gene AMH foram descritos em novilhas da raça Nelore e associados a características indicadoras de precocidade sexual.

AMH Polymorphisms and their association with traits indicative of sexual precocity in nelore heifers / Polimorfismos do AMH e suas associações com características indicadoras de precocidade sexual em novilhas nelore

Anti-Müllerian Hormone (AMH) is a protein expressed in the gonads and related to ovarian follicular development. The aim of this study was to investigate the presence of polymorphisms in the AMH gene in a Nelore herd to analyze the genetic constitution of this population and to perform association studies with early pregnancy occurrence (EPO) and age at first calving (AFC). Phenotypic data consisted of verification of early pregnancy and age at first calving of 197 unrelated heifers exposed to the mating season and aged between 15 and 17 months (precocious group) and 24 months (non-precocious group). The “precocious” group consisted of 67 heifers with age at first calving of 26.5 ± 0.59 months, and the “non-precocious” group was composed of 130 heifers with age at first calving of 36.4 ± 0.99 months. All five exons of the AMH gene were amplified by Polymerase Chain Reaction (PCR) and sequenced. A total of three SNPs were identified in this study, all of them located in exon 5 (rs527023314, rs722016629, and rs134387246), the latter one positioned in the stop codon. All three SNPs identified in exon 5 characterized synonymous mutations. Only SNP rs134387246 exhibited a significant value (P ≤ 0.10) for EPO and AFC. The association study of SNP rs134387246 revealed an over-dominance effect (P = 0.056), and no additive effect was observed (P = 0.67). A reduction of 2.5 months (75 days) in the age at first calving of heterozygous heifers for the SNP rs134387246 was observed. For the first time, polymorphisms of the AMH gene were described in Nelore heifers and associated with sexual precocity traits.(AU)

O hormônio Anti-Mülleriano (AMH) é uma proteína expressa nas gônadas e está relacionada ao desenvolvimento folicular ovariano. O objetivo desse trabalho foi investigar a presença de polimorfismos do gene AMH em um rebanho Nelore, analisar a constituição genética da população para o gene e estudar a associação entre os polimorfismos e as características ocorrência de prenhez precoce (OPP) e idade ao primeiro parto (IPP). Os dados fenotípicos consistiram da verificação da prenhez precoce e idade ao primeiro parto de 197 novilhas, não aparentadas, expostas à estação de monta com idade entre 15 e 17 meses (grupo precoce) ou 24 meses (grupo não precoce). O grupo denominado “precoce” foi composto por 67 novilhas com idade ao primeiro parto de 26.5±0.59 meses, e o segundo denominado “não precoce” composto por 130 novilhas com idade ao primeiro parto de 36.4±0.99 meses. Os cinco éxons do gene AMH foram amplificados por meio da técnica de Reação em Cadeia da Polimerase (PCR) e sequenciados. Um total de três SNPs foram identificados nesse estudo, todos localizados no éxon 5 (rs527023314, rs722016629 and rs134387246), sendo o último posicionado stop codon. Os três SNPs identificados caracterizaram mutações sinônimas. Somente o SNP rs134387246 exibiu associação significante (P ≤ 0.10) para ambas características (OPP e IPP). O estudo de associação do SNP rs134387246 revelou um efeito de sobre dominância (P=0,056), e ausência de ação gênica aditiva (P=0,67). Foi observada redução de 2,5 meses (75 dias) na idade ao primeiro parto de novilhas heterozigotas para o SNP rs134387246. Pela primeira vez na literatura, polimorfismos do gene AMH foram descritos em novilhas da raça Nelore e associados a características indicadoras de precocidade sexual.(AU)