Heritabilities and Genetic Correlations of Body Condition Score and Muscularity with Productive Traits and their Trend Functions in Italian Simmental Cattle

With the aim to study the genetics of energy and muscle balance in the Italian Simmental breed, the objectives of this study were: i) the estimation of the genetic parameters for body condition score (BCS) and muscularity (MU) score; ii) the estimation of genetic correlations of BCS and MU with productive traits; iii) the estimation of the expected pattern of BCS and MU over lactation. A total of 47,839 records of first-parity lactating cows, collected from 1999 to 2007 in 2794 herds, were used. Two-trait animal models were analyzed using restricted maximum likelihood (REML) procedures to estimate (co)variance components. The expected patterns of BCS and MU along the lactation of first parity cows were estimated from the solutions of DIM fixed effect obtained from an univariate mixed model for both the traits. The heritability estimated was 0.18 for BCS, 0.38 for MU, and ranged from 0.13 to 0.18 for yield traits. The genetic correlations between BCS, MU and yield traits were negative (-0.17 to -0.63). The genetic correlation between BCS and MU was strongly positive (0.88), indicating that cows that genetically tend to have high BCS are more likely to have high values of MU. The genetic parameters estimated suggested that selection for BCS and MU in dual purpose breeds may be possible, and BCS may indirectly improve MU. The expected patterns for BCS and MU showed the trend of these two traits along the lactation and can help farmers in planning the best management of the lactating cows

A high-resolution CNV map across Brown Swiss cattle populations.

Genomic studies and their use in selection programs are having a strong impact in dairy cattle selection (E. Liu et al., 2010). The first aim was to create a high resolution map of CNV regions (CNVRs) in Brown Swiss cattle and the characterization of identified CNVs as markers for quantitative and population genetic studies. CNVs were called in a set of 164 sires with PennCNV and genoCN. PennCNV identified 2,377 CNVRs comprising 1,162 and 1,131 gain and loss events, respectively, and 84 regions of complex nature. GenoCN detected 41,519 CNVRs comprising 3,475 and 34,485 gain and loss events, respectively, and 3,559 regions of complex ones. Consensus calls between algorithms were summarized to CNVRs at the population level. GenoCN was also used to identify total allelic content in consensus CNVRs. Moreover, population haplotype frequencies were calculated. Linkage disequilibrium (LD) was established between CNVs and SNPs in and around CNVRs. In this study the potential contribution of CNVs as genetic markers for genome wide association studies (GWAS) has been assessed thanks to PIC and LD values. The next aim is to investigate genomic structural variation in cattle using dense SNP information in more than 1000 samples of the Italian and Swiss Brown Swiss breed genotyped on HD Bovine BeadChips. Today there is still no CNV map available across Brown Swiss populations belonging to different countries. This study therefore expands the catalogue of CNVRs in the bovine genome, delivers an international based high-resolution map of CNVRs specific to Brown Swiss dairy cattle and will lastly provide information for GEBV estimation with CNVs

Genetic parameters of fatty acids in Italian Brown Swiss and Holstein cows

The aim of this study was to estimate the genetic parameters and to predict experimental breeding values (EBVs) for saturated (SFA), unsaturated (UFA), monounsaturated (MUFA) and polyunsaturated (PUFA) fatty acids, the ratio of fatty acids, and the productive traits in Italian Brown Swiss (BSW) and Holstein Friesian (HOL) cattle. Test-day yields from 235,658 HOL and 21,723 BSW cows were extracted from the Italian HOL and BSW Associations databases from November 2009 to October 2012 out of 3310 herds. The milk samples collected within the routine milk recording scheme were processed with the MilkoscanTM FT 6500 Plus (Foss, Hillerød, Denmark) for the identification of SFA, UFA, MUFA and PUFA composition in milk. Genetic parameters for fatty acids and productive traits were estimated on 1,765,552 records in HOL and 255,592 records in BSW. Heritability values estimated for SFA, UFA, MUFA and PUFA ranged from 0.06 to 0.18 for the BSW breed and from 0.10 to 0.29 for HOL. The genetic trends for the fatty acids were consistent between traits and breeds. Pearson's and Spearman's correlations among EBVs for SFA, UFA, MUFA and PUFA and official EBVs for fat percentage were in the range 0.32 to 0.54 for BSW and 0.44 to 0.64 for HOL. The prediction of specific EBVs for milk fatty acids and for the ratio among them may be useful to identify the best bulls to be selected with the aim to improve milk quality in terms of fat content and fatty acid ratios, achieving healthier dairy productions for consumers

Measurement of mitochondrial respiratory chain enzymatic activities in Drosophila melanogaster samples

Mitochondrial respiratory chain (MRC) dysfunction is linked to mitochondrial disease as well as other common conditions such as diabetes, neurodegeneration, cancer, and aging. Thus, the evaluation of MRC enzymatic activities is fundamental for diagnostics and research purposes on experimental models. Here, we provide a verified and reliable protocol for mitochondria isolation from various D. melanogaster samples and subsequent measurement of the activity of MRC complexes I-V plus citrate synthase (CS) through UV-VIS spectrophotometry. For complete details on the use and execution of this protocol, please refer to Brischigliaro et al. (2021)

Identification and validation of copy number variants in Italian Brown Swiss dairy cattle using Illumina Bovine SNP50 Beadchip®

The determination of copy number variation (CNV) is very important for the evaluation of genomic traits in several species because they are a major source for the genetic variation, influencing gene expression, phenotypic variation, adaptation and the development of diseases. The aim of this study was to obtain a CNV genome map using the Illumina Bovine SNP50 BeadChip data of 651 bulls of the Italian Brown Swiss breed. PennCNV and SVS7 (Golden Helix) software were used for the detection of the CNVs and Copy Number Variation Regions (CNVRs). A total of 5,099 and 1,289 CNVs were identified with PennCNV and SVS7 software, respectively. These were grouped at the population level into 1101 (220 losses, 774 gains, 107 complex) and 277 (185 losses, 56 gains and 36 complex) CNVR. Ten of the selected CNVR were experimentally validated with a qPCR experiment. The GO and pathway analyses were conducted and they identified genes (false discovery rate corrected) in the CNVR related to biological processes cellular component, molecular function and metabolic pathways. Among those, we found the FCGR2B, PPARα, KATNAL1, DNAJC15, PTK2, TG, STAT family, NPM1, GATA2, LMF1, ECHS1 genes, already known in literature because of their association with various traits in cattle. Although there is variability in the CNVRs detection across methods and platforms, this study allowed the identification of CNVRs in Italian Brown Swiss, overlapping those already detected in other breeds and finding additional ones, thus producing new knowledge for association studies with traits of interest in cattle

CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7B

The mitochondrial respiratory chain (MRC) is composed of four multiheteromeric enzyme complexes. According to the endosymbiotic origin of mitochondria, eukaryotic MRC derives from ancestral proteobacterial respiratory structures consisting of a minimal set of complexes formed by a few subunits associated with redox prosthetic groups. These enzymes, which are the "core" redox centers of respiration, acquired additional subunits, and increased their complexity throughout evolution. Cytochrome c oxidase (COX), the terminal component of MRC, has a highly interspecific heterogeneous composition. Mammalian COX consists of 14 different polypeptides, of which COX7B is considered the evolutionarily youngest subunit. We applied proteomic, biochemical, and genetic approaches to investigate the COX composition in the invertebrate model Drosophila melanogaster. We identified and characterized a novel subunit which is widely different in amino acid sequence, but similar in secondary and tertiary structures to COX7B, and provided evidence that this object is in fact replacing the latter subunit in virtually all protostome invertebrates. These results demonstrate that although individual structures may differ the composition of COX is functionally conserved between vertebrate and invertebrate species

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

non present