| Author | Matosinho, Carolina Guimarães Ramos | |
| Author | Rosse, Izinara Cruz | |
| Author | Fonseca, Pablo Augusto Souza | |
| Author | Oliveira, Francislon Silva de | |
| Author | Santos, Fausto Gonçalves Dos | |
| Author | Araújo, Flávio Marcos Gomes | |
| Author | Salim, Anna Christina de Matos | |
| Author | Lopes, Beatriz Cordenonsi | |
| Author | Arbex, Wagner Antonio | |
| Author | Machado, Marco Antônio | |
| Author | Peixoto, Maria Gabriela Campolina Diniz | |
| Author | Verneque, Rui da Silva | |
| Author | Martins, Marta Fonseca | |
| Author | Silva, Marcos Vinicius Gualberto Barbosa da | |
| Author | Oliveira, Guilherme Correa de | |
| Author | Pires, Douglas Eduardo Valente | |
| Author | Carvalho, Maria Raquel Santos | |
| Access date | 2023-08-09T18:23:14Z | |
| Available date | 2023-08-09T18:23:14Z | |
| Document date | 2021 | |
| Citation | MATOSINHO, Carolina Guimarães Ramos et al. Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr. Trop Anim Health Prod. V. 53, n. 6, 524,2021. doi: 10.1007/s11250-021-02970-2. | en_US |
| ISSN | 0049-4747 | en_US |
| URI | https://www.arca.fiocruz.br/handle/icict/59931 | |
| Language | eng | en_US |
| Publisher | Springer | en_US |
| Rights | restricted access | en_US |
| Title | Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr. | en_US |
| Type | Article | en_US |
| Abstract | Whole genome sequencing of bovine breeds has allowed identification of genetic variants in milk protein genes. However, functional repercussion of such variants at a molecular level has seldom been investigated. Here, the results of a multistep Bioinformatic analysis for functional characterization of recently identified genetic variants in Brazilian Gyr and Guzerat breeds is described, including predicted effects on the following: (i) evolutionary conserved nucleotide positions/regions; (ii) protein function, stability, and interactions; (iii) splicing, branching, and miRNA binding sites; (iv) promoters and transcription factor binding sites; and (v) collocation with QTL. Seventy-one genetic variants were identified in the caseins (CSN1S1, CSN2, CSN1S2, and CSN3), LALBA, LGB, and LTF genes. Eleven potentially regulatory variants and two missense mutations were identified. LALBA Ile60Val was predicted to affect protein stability and flexibility, by reducing the number the disulfide bonds established. LTF Thr546Asn is predicted to generate steric clashes, which could mildly affect iron coordination. In addition, LALBA Ile60Val and LTF Thr546Asn affect exonic splicing enhancers and silencers. Consequently, both mutations have the potential of affecting immune response at individual level, not only in the mammary gland. Although laborious, this multistep procedure for classifying variants allowed the identification of potentially functional variants for milk protein genes. | en_US |
| Affilliation | Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Programa de Pós-Graduação Em Genética. Belo Horizonte, MG, Brazil. | en_US |
| Affilliation | Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Programa de Pós-Graduação Em Genética. Belo Horizonte, MG, Brazil/Universidade Federal de Ouro Preto. Escola de Farmácia. Departamento de Farmácia. Ouro Preto, MG, Brazil. | en_US |
| Affilliation | Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Programa de Pós-Graduação Em Genética. Belo Horizonte, MG, Brazil/University of Guelph. Centre for Genetic Improvement of Livestock. Department of Animal Biosciences. Guelph, ON, Canada. | en_US |
| Affilliation | Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Programa de Pós-Graduação Em Genética. Belo Horizonte, MG, Brazil/ Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Grupo de Genômica E Biologia Computacional. Belo Horizonte, MG, Brazil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Grupo de Genômica E Biologia Computacional. Belo Horizonte, MG, Brazil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Grupo de Genômica E Biologia Computacional. Belo Horizonte, MG, Brazil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Grupo de Genômica E Biologia Computacional. Belo Horizonte, MG, Brazil. | en_US |
| Affilliation | EPAMIG. Belo Horizonte, MG, Brazil. | en_US |
| Affilliation | Embrapa Gado de Leite. Juiz de Fora, MG, Brazil. | en_US |
| Affilliation | Embrapa Gado de Leite. Juiz de Fora, MG, Brazil. | en_US |
| Affilliation | Embrapa Gado de Leite. Juiz de Fora, MG, Brazil. | en_US |
| Affilliation | EPAMIG. Belo Horizonte, MG, Brazil/Embrapa Gado de Leite. Juiz de Fora, MG, Brazil. | en_US |
| Affilliation | Embrapa Gado de Leite. Juiz de Fora, MG, Brazil. | en_US |
| Affilliation | Embrapa Gado de Leite. Juiz de Fora, MG, Brazil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas René Rachou. Grupo de Genômica E Biologia Computacional. Belo Horizonte, MG, Brazil/Instituto Tecnológico Vale. Belém, PA, Brazil. | en_US |
| Affilliation | School of Computing and Information Systems. University of Melbourne. Parkville, VIC, Australia/Bio21 Institute. University of Melbourne. Parkville, VIC, Australia. | en_US |
| Affilliation | Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Programa de Pós-Graduação Em Genética. Belo Horizonte, MG, Brazil. | en_US |
| Subject | Cattle | en_US |
| Subject | Casein | en_US |
| Subject | Lactoferrin | en_US |
| Subject | α-Lactalbumin | en_US |
| Subject | Milk protein | en_US |
| Subject | In silico variant analysis | en_US |
| Embargo date | 3100-12-31 | |
