@article {26698,
	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},
	journal = { TROPICAL ANIMAL HEALTH AND PRODUCTION},
	volume = {53},
	year = {2021},
	pages = {254, 2021},
	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,\&nbsp;CSN2,\&nbsp;CSN1S2, and\&nbsp;CSN3),\&nbsp;LALBA,\&nbsp;LGB, and\&nbsp;LTF\&nbsp;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.},
	url = {https://doi.org/10.1007/s11250-021-02970-2},
	author = {Carolina Guimar{\~a}es Ramos Matosinho and Izinara Cruz Rosse and Pablo Augusto Souza Fonseca and Francislon Silva de Oliveira and Fausto Gon{\c c}alves dos Santos and Fl{\'a}vio Marcos Gomes Ara{\'u}jo and Anna Christina de Matos Salim and Beatriz Cordenonsi Lopes and et. al.}
}
