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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.
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An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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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.
Assuntos
Búfalos/genética , Reprodução/fisiologia , Animais , Cruzamento , Búfalos/fisiologia , Feminino , Fertilidade/fisiologia , Estudo de Associação Genômica Ampla/veterinária , Polimorfismo de Nucleotídeo Único , Locos de Características QuantitativasRESUMO
Most of the knowledge about genetic variants at the sequence level in cattle is for Bos primigenius taurus populations. Here, we presented a complete genomic characterization of 52 Nellore (Bos primigenius indicus) bulls, revealing specific zebu DNA variants with putative impact in tropical adaptation and productive traits. Single nucleotide polymorphisms (SNPs) and insertion/deletion (INDELs) mutations were identified using the newest bovine reference genome ARS_UCD1.2, and variant functional consequences were predicted using the Ensembl VEP software. A total of 35,753,707 SNPs and 4,492,636 INDELs were detected and annotated to their functional effects. We identified 400 genes that comprised both, a SNP and an INDEL, of high functional impact on proteins (i.e. variants that cause protein truncation, loss of function or triggering nonsense-mediated decay). Among these, we highlight the following genes: BoLA, associated with cattle immune response to infections and reproduction aspects; HSPA8, DNAJC27, and DNAJC28, involved with thermoregulatory protective mechanisms in mammals; and many olfactory signaling pathway related genes that are important genetic factors in the evolution of mammalian species. All these functional aspects are directly related to cattle adaptability to tropical environments.
Assuntos
Adaptação Fisiológica/genética , Genoma/genética , Polimorfismo de Nucleotídeo Único/genética , Animais , Cruzamento/métodos , Bovinos , Genômica/métodos , Mutação INDEL , Fenótipo , Sequenciamento Completo do Genoma/métodosRESUMO
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.
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Bovinos/genética , Genoma , Animais , Regulação da Temperatura Corporal/genética , Brasil , Cruzamento , Canadá , Bovinos/classificação , Resistência à Doença/genética , Marcadores Genéticos , Desequilíbrio de Ligação , Reprodução/genética , Especificidade da EspécieRESUMO
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.
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Búfalos/genética , Estudo de Associação Genômica Ampla/veterinária , Leite , Animais , Pesos e Medidas Corporais/veterinária , Búfalos/anatomia & histologia , Bovinos , Indústria de Laticínios , Feminino , Genótipo , Lactação/genética , Locos de Características QuantitativasRESUMO
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)
Assuntos
Animais , Feminino , Adulto Jovem , Bovinos , Hormônio Antimülleriano/genética , Hormônio Antimülleriano/análise , Polimorfismo Genético , Prenhez/genética , Parto , Reprodução/genética , Reação em Cadeia da Polimerase/veterinária , Reação em Cadeia da Polimerase/métodosRESUMO
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.
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Feminino , Animais , Adulto Jovem , Bovinos , Hormônio Antimülleriano/análise , Hormônio Antimülleriano/genética , Parto , Polimorfismo Genético , Prenhez/genética , Reprodução/genética , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase/veterináriaRESUMO
This study compared the expression profile of the candidate genes, CSF3 and LPO, by investigating the immune response mechanisms involved in the phenotype of resistance and susceptibility to mastitis of healthy and infected buffaloes. The Granulocyte Colony Stimulating Factor 3 (CSF3) and Lactoperoxidase (LPO) genes expression profiles were determined in 24 milk samples from buffaloes with (Nâ¯=â¯12) and without (Nâ¯=â¯12) mastitis, using the quantitative real-time PCR (qRT-PCR) technique. CSF3 and LPO expressions were 5.14 (Pâ¯=â¯0.001) and 2.41 (Pâ¯=â¯0.097) times higher in animals with mastitis compared to healthy animals, respectively, evidencing a trend toward different expressions of this gene in the studied groups. Our finding suggests that LPO and CSF3 genes are an important defense mechanism against mastitis in dairy buffaloes, and may be putative genes for selecting healthier animals in buffalo breeding programs.
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Búfalos/genética , Fator Estimulador de Colônias de Granulócitos/genética , Lactoperoxidase/genética , Mastite/genética , Leite/metabolismo , Transcriptoma , Animais , Feminino , Regulação da Expressão Gênica , Fator Estimulador de Colônias de Granulócitos/metabolismo , Lactoperoxidase/metabolismoRESUMO
Zebu cattle (Bos taurus indicus) are highly adapted to tropical regions. However, females reach puberty after taurine heifers, which affects the economic efficiency of beef cattle breeding in the tropical regions. The aims of this study were to establish associations between the haplotype alleles of the bovine genome and age at first calving (AFC) in the Nelore cattle, and to identify the genes and quantitative trait loci (QTL) related to this phenotype. A total of 2,273 Nelore cattle (995 males and 1,278 females) genotyped using the Illumina BovineHD BeadChip were used in the current study. The association analysis included females with valid first calving records as well as open heifers. Linkage disequilibrium (LD) analysis among the markers was performed using blocks of 5, 10, and 15 markers, which were determined by sliding windows shifting one marker at a time. Then, the haplotype block size to be used in the association study was chosen based on the highest r2 average among the SNPs in the block. The five HapAlleles most strongly associated with the trait (top five) were considered as significant associations. The results of the analysis revealed four genomic regions related to AFC, which overlapped with 20 QTL of the reproductive traits reported previously. Furthermore, there were 19 genes related to reproduction in those regions. In conclusion, the use of haplotypes allowed the detection of chromosomal regions associated with AFC in Nelore cattle, and provided the basis for elucidating the mechanisms underlying this trait.
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Alelos , Cruzamento , Bovinos/genética , Haplótipos , Reprodução/genética , Criação de Animais Domésticos , Animais , Feminino , Estudo de Associação Genômica Ampla , Desequilíbrio de Ligação , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características QuantitativasRESUMO
This study identified polymorphisms in the DGAT1 gene in Murrah buffaloes and investigated the associations to milk production and quality traits (milk, fat and protein yields and percentages, somatic cell count). Genomic DNA was extracted from hair follicles collected from the tail of 196 females. Three SNPs were identified in DGAT1 gene by sequencing. Statistical analyses were performed to verify the linkage and the association between polymorphisms and traits. The estimated value of r (2) between two SNPs in exon 17 (g.11,783G > A and g.11,785 T > C) was 0.029. SNP g.11,785 T > C was significantly associated (P < 0.05) to fat and protein percentage. Dominance effect was significant for milk and fat yields and protein percentage (P < 0.05). The additive effect of the SNP g.11,785 T > C was significant for protein production and somatic cell count (P < 0.05). It indicates that assisted marker selection might be done with considerations to balance production and udder health.
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Búfalos/genética , Diacilglicerol O-Aciltransferase/genética , Lactação/genética , Leite/metabolismo , Polimorfismo de Nucleotídeo Único , Animais , Brasil , Búfalos/fisiologia , Indústria de Laticínios , Feminino , Genótipo , Lactação/fisiologia , Fenótipo , Clima TropicalRESUMO
The use of molecular markers may auxiliary the buffalo breeding. The oxytocin (OXT) and the adrenergic receptor α1A (ADRA1A) may be involved in milk ejection in ruminants. The aim of this study was to verify the existence of polymorphisms in the OXT and ADRA1A genes and their associations with milk production traits. A total of 220 buffaloes were genotyped using PCR-RFLP for both genes. The SNP identified in the ADRA1A gene was associated with protein percentage in dairy buffaloes. This is the first report of such association in the literature, which has not been studied in other species.
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Búfalos/genética , Lactação/genética , Ocitocina/genética , Receptores Adrenérgicos alfa 1/genética , Animais , Indústria de Laticínios , Feminino , Marcadores Genéticos/genética , Leite/química , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The main environmental factor that affects the regulation of reproductive seasonality is photoperiod through its effects on melatonin secretion. The melatonin receptor MTRN1A appears to be involved in regulating the reproductive seasonality and milk production in the period. The aim of this study was to identify polymorphisms in the MTRN1A gene and their possible associations with milk, fat and protein productions, fat and protein percentages, age at first calving, and first calving interval in buffaloes. Three genotypes (CC, CT, and TT) were identified by PCR-RFLP, and there was a significant association with protein percentage (P < 0.0001). Further studies are necessary to better understand the influence of melatonin gene and their receptors in the productive functions of buffaloes.
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Búfalos/fisiologia , Genótipo , Polimorfismo Genético , Receptor MT1 de Melatonina/metabolismo , Reprodução/genética , Animais , Búfalos/genética , Feminino , Regulação da Expressão Gênica/fisiologia , Lactação/genética , Lactação/fisiologia , Fotoperíodo , Gravidez , Receptor MT1 de Melatonina/genética , Reprodução/fisiologiaRESUMO
Protein JY-1 is a bovine oocyte-specific protein that regulates granulosa cell function and is involved in early embryonic development, influencing the chance of pregnancy. This study investigated molecular markers for the JY-1 gene. Seven SNPs were identified in exon 3 of the gene. The positions of the SNPs in the exon and the respective substitutions are: 163 (T/C), 281 (T/C), 321 (T/C), 532 (T/C), 652 (A/G), 679 (T/C), and 722 (G/C) (GenBank: JN592587 and JF262042.2). SNP 163 is located in a coding region and causes a proline-to-leucine substitution. The other SNPs are located in the 3'UTR region. SNPs 163, 281, 321, and 679 were genotyped in 297 Nellore heifers and the haplotypes were constructed. The haplotypes of JY-1 were not correlated with the traits studied at 5 %.