Resumen de CNV: Considerando nuevas variantes en el genoma
N. Ben Sassi, A.I. Fernández, O. González Recio
The objective of this study was to identify copy number variants associated to economical traits (fat and protein yield, somatic cell count and days open) in Holstein. CNVs were detected by exploiting hybridization signal intensities from the BovineSNP50BeadChip and using PennCNV software. More than 2000 CNVRs were identified, 315 thereof appeared segregating in the sires with available phenotypic data. Frequentist and Bayesian approaches were used in the association analyses. Both fat and protein yield shared associated CNVRs. We may highlight GH, SREB, STAT5, TNRF and ACLY among the genes located within these regions, which have been previously associated to fat yield in different studies. Further, five different genes (DGAT1, IGFAL, GFER, PPARA, CPT1B) were detected and previously reported as related to both protein and fat yield pathways in Holstein. Additionally, we reported that six different CNVRs are significantly associated with somatic cell count and among the genes contained within these regions, the LRP1B, have been already related to the trait.
