Estudos de associação genômica ampla para características de qualidade do leite em bovinos da raça holandesa do Brasil
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Universidade Estadual de Ponta Grossa
Abstract
With the accelerated development of the industry, increasingly aiming for quality and
performance, it was necessary to seek innovative tools so that herds can keep up with
market demands with profitability and well-being. With genome-wide association
studies (GWAS) there are reports of many molecular markers that contribute to milk
production, and milk fat and protein characteristics, in the Holstein Breed. Over the
years, several GWAS studies have identified genes relevant to milk and solid
production in different Holstein populations. However, there is still not much
information about the genome of these animals in Brazil, where they are kept under
breeding, management and climate conditions that are different from other places
where genomic studies are already more advanced. Therefore, in this study, important
genomic regions were found for the percentage of fat and protein, as well as the
production of protein fat in kilos, in Holstein cattle raised in Brazil. In this study, milk
production data was analyzed in 2,339 Holstein cows in four Brazilian states between
2021 and 2022, with 84,411 markers after quality control, using the GGP Bovine 100k
SNP Chip. The ssGWAS approach was applied with the BLUPF90 family of programs,
followed by the exploration of genomic regions with significant SNPs (P-value <5x10-
8) and identification of associated genes, complemented by enrichment analyzes and
gene networks using DAVID tools and STRING. The CPSF1, CYHR1, DGAT1,
SLC52A2 and TSNARE1 genes were found in all analyzed traits. And the genes that
had the highest peak in the Manhattan Plot graphs were the SLC52A2 and DGAT1
genes. For protein production in kilos, 17 chromosomes were found in 30 different
genes, while for PTA fat production in kilos, 27 genes were found in 16 chromosomes.
Regarding the protein percentage, 12 genes were found on 3 chromosomes and for
fat percentage, 48 genes were found on 23 chromosomes. In the analysis of functional
parameters, it was observed that the genes CSN1S1, CSN2, PLEC, SVEP1, MAML3,
MRTFA and MRTFB play a predominant role in biological processes related to the kilo
protein characteristic. With regard to the protein characteristic in percentage, the genes
EPPK1, PLEC, VPS28, ADGRB1, CSN1S1, CSN2, CSN3, MAPK15, TRAPPC9, GHR,
HSTN, CPSF1, ZC3H3 and SLC4A4 were identified as most relevant. For fat
production in kilos, 35 genes were found, the most evident being the PLEC gene and
of the 42 genes for fat percentage, the genes with the highest incidence were AGO2
and AGO3. These genes may be related in the functions of biological processes,
related functions of the cellular component and molecular function. Direct or indirect
functions for milk production have not yet been established in the literature for the
genes AGO2, AGO3, ARHGAP39, C25H16ORF82, CDH3, CMYA5, DENND3,
EEF1D, ENSBTAG00000025756, ENSBTAG00000038214, ENSBTAG00000048091,
ENSBTAG00000 051599, ENSBTAG00000053188, ENSBTAG00000054671,
ENSBTAG00000055067, EXOC3, FBXO43 , GLT6D1, GNAI3, GPAA1, GRHL2,
GUCA1A, IQANK1, IVNS1APB, KCNA4, KIAA0753, KMT2E, LRRC1, MAF1,
MAPK15, MLIP, MRTFB, NADSYN, NCALD, OPCML, OR2D37, OSCP1, OSR2,
PIK3C2G, PTK2, PTPN14, RAB2A , RAP1GAP2, RCN3, RERG, RGMA, RNF1144B,
RNF19A, RTRAF, SEMA3A, SH2D4B, SPAG1, SPIN1, STK40, TNRC6B, UBXN2A,
ZBTB46 and ZNF691. Therefore, these genes can contribute to the genetic
improvement of the Brazilian Holstein breed, being expressed in dairy herds raised in
tropical and subtropical environments. This study played an important role in
investigating the genetic composition of Holstein dairy cattle raised in Brazilian
environmental conditions. This research aimed to obtain greater knowledge of
favorable genetic variants that can contribute to increasing national dairy productivity.
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GAIA, Rita Carolina. Estudos de associação genômica ampla para características de qualidade do leite em bovinos da raça holandesa do Brasil. 2023. Dissertação (Mestrado em Zootecnia) - Universidade Estadual de Ponta Grossa, Ponta
Grossa, 2023.
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