Short Communication: Characterization of a New Genetic Variant in the Caprine k-casein Gene

A new polymorphism has been identified in the goat kappa-casein gene by evaluating genomic DNA from the Montefalcone breed in Italy. The polymorphic site consists of a single nucleotide substitution A to G at position 242 of the exon 4 and produces an amino acid substitution Asp/Gly. A polymerase chain reaction-restriction fragment length polymorphism protocol for rapid genotyping of the variant has been developed, using the HaeIII enzyme. Animals from Italian, Spanish, and French breeds have been analyzed to investigate the occurrence of the allele in other populations. The allele appears to be exclusive to the Montefalcone breed

Identification of differentially expressed genes in the oviduct of two rabbit lines divergently selected for uterine capacity using suppression subtractive hybridization

This is the accepted version of the following article: Ballester, M.; Castelló, A.; Peiró Barber, RM.; Argente, M. J.;Santacreu Jerez, MA.; Folch, J. M. (2013). Identification of differentially expressed genes in the oviduct of two rabbit lines divergently selected for uterine capacity using suppression subtractive hybridization. Animal Genetics. 44:296-304. doi:10.1111/AGE.12005. , which has been published in final form at http://dx.doi.org/10.1111/age.12005.[EN] Suppressive subtractive hybridization libraries from oviduct at 62h post-mating of two lines of rabbits divergently selected for uterine capacity were generated to identify differentially expressed genes. A total of 438 singletons and 126 contigs were obtained by cluster assembly and sequence alignment of 704 expressed sequence tags (ESTs), of which 54% showed homology to known proteins of the non-redundant NCBI databases. Differential screening by dot blot validated 71 ESTs, of which 47 showed similarity to known genes. Transcripts of genes were functionally annotated in the molecular function and the biological process gene ontology categories using the blast2go software and were assigned to reproductive developmental process, immune response, amino acid metabolism and degradation, response to stress and apoptosis terms. Finally, three interesting genes, PGR, HSD17B4 and ERO1L, were identified as overexpressed in the low line using RT-qPCR. Our study provides a list of candidate genes that can be useful to understanding the molecular mechanisms underlying the phenotypic differences observed in early embryo survival and development traits.We would like to thank Henry Cardona Cadavid for help in the sequencing. This study was funded with project AGL2005-07624-C03.Ballester Devis, M.; Castelló Farre, A.; Peiró Barber, RM.; Argente, MJ.; Santacreu Jerez, MA.; Folch, JM. (2013). Identification of differentially expressed genes in the oviduct of two rabbit lines divergently selected for uterine capacity using suppression subtractive hybridization. Animal Genetics. 44:296-304. https://doi.org/10.1111/AGE.12005S2963044

AGC1-malate aspartate shuttle activity is critical for dopaminehandling in the nigrostriatal pathway

This is the pre-peer reviewed version of the following article: Llorente-Folch, I. et al. "AGC1-malate aspartate shuttle activity is critical for dopaminehandling in the nigrostriatal pathway". Journal of Neurochemistry 124.3 (2013): 347-362, which has been published in final form at http://dx.doi.org/10.1111/jnc.12096This study was supported by grants from the Ministerio deEducacion y Ciencia BFU2008-04084/BMC (to JS), and Ciencia eInnovacion (SAF2010-16427 to MD), Comunidad de Madrid S-GEN-0269-2006 MITOLAB-CM (to JS), European Union GrantLSHM-CT-2006-518153 (to J.S.), and CureFXS E-Rare. EU/FISPS09102673, Spanish Ministry of Health (PI 082038 to MD),Marato TV3, Jerome Lejeune (JMLM/AC /08-044) to MD, Fundac-ion Medica Mutua Madrile~na (to BP), and by an institutional grantfrom the Fundacion Ramon Areces to the CBMSO. CIBERER is aninitiative of the ISCI

Survey of SSC12 Regions Affecting Fatty Acid Composition of Intramuscular Fat Using High-Density SNP Data

Fatty acid composition is a critical aspect of pork because it affects sensorial and technological aspects of meat quality and it is relevant for human health. Previous studies identified significant QTLs in porcine chromosome 12 for fatty acid profile of back fat (BF) and intramuscular fat (IMF). In the present study, 374 SNPs mapped in SSC12 from the 60K Porcine SNP Beadchip were used. We have combined linkage and association analyses with expression data analysis in order to identify regions of SSC12 that could affect fatty acid composition of IMF in longissimus muscle. The QTL scan showed a region around the 60-cM position that significantly affects palmitic fatty acid and two related fatty acid indexes. The Iberian QTL allele increased the palmitic content (+2.6% of mean trait). This QTL does not match any of those reported in the previous study on fatty acid composition of BF, suggesting different genetic control acting at both tissues. The SNP association analyses showed significant associations with linolenic and palmitic acids besides several indexes. Among the polymorphisms that affect palmitic fatty acid and match the QTL region at 60 cM, there were three that mapped in the Phosphatidylcholine transfer protein (PCTP) gene and one in the Acetyl-CoA Carboxylase ∝ gene (ACACA). Interestingly one of the PCTP SNPs also affected significantly unsaturated and double bound indexes and the ratio between polyunsaturated/monounsaturated fatty acids. Differential expression was assessed on longissimus muscle conditional on the genotype of the QTL and on the most significant SNPs, according to the results obtained in the former analyses. Results from the microarray expression analyses, validated by RT-qPCR, showed that PCTP expression levels significantly vary depending on the QTL as well as on the own PCTP genotype. The results obtained with the different approaches point out the PCTP gene as a powerful candidate underlying the QTL for palmitic content

Liver transcriptome profile in pigs with extreme phenotypes of intramuscular fatty acid composition

Abstract Background New advances in high-throughput technologies have allowed for the massive analysis of genomic data, providing new opportunities for the characterization of the transcriptome architectures. Recent studies in pigs have employed RNA-Seq to explore the transcriptome of different tissues in a reduced number of animals. The main goal of this study was the identification of differentially-expressed genes in the liver of Iberian x Landrace crossbred pigs showing extreme phenotypes for intramuscular fatty acid composition using RNA-Seq. Results The liver transcriptomes of two female groups (H and L) with phenotypically extreme intramuscular fatty acid composition were sequenced using RNA-Seq. A total of 146 and 180 unannotated protein-coding genes were identified in intergenic regions for the L and H groups, respectively. In addition, a range of 5.8 to 7.3% of repetitive elements was found, with SINEs being the most abundant elements. The expression in liver of 186 (L) and 270 (H) lncRNAs was also detected. The higher reproducibility of the RNA-Seq data was validated by RT-qPCR and porcine expression microarrays, therefore showing a strong correlation between RT-qPCR and RNA-Seq data (ranking from 0.79 to 0.96), as well as between microarrays and RNA-Seq (r=0.72). A differential expression analysis between H and L animals identified 55 genes differentially-expressed between groups. Pathways analysis revealed that these genes belong to biological functions, canonical pathways and three gene networks related to lipid and fatty acid metabolism. In concordance with the phenotypic classification, the pathways analysis inferred that linolenic and arachidonic acids metabolism was altered between extreme individuals. In addition, a connection was observed among the top three networks, hence suggesting that these genes are interconnected and play an important role in lipid and fatty acid metabolism. Conclusions In the present study RNA-Seq was used as a tool to explore the liver transcriptome of pigs with extreme phenotypes for intramuscular fatty acid composition. The differential gene expression analysis showed potential gene networks which affect lipid and fatty acid metabolism. These results may help in the design of selection strategies to improve the sensorial and nutritional quality of pork meat.This work was funded by MICINN projects AGL2008-04818-C03/GAN and AGL2011-29821-C02 (Ministerio de Economía y Competitividad), and by the Innovation Consolider-Ingenio 2010 Program (CSD2007-00036, Centre for Research in Agrigenomics). Y. Ramayo-Caldas was funded by a FPU PhD grant from the Spanish Ministerio de Educación (AP2008-01450), J. Corominas was funded by a FPI PhD grant from the Spanish Ministerio de Educación (BES-2009-018223), A. Esteve-Codina is recipient of a FPI PhD fellowship from the Ministerio de Educación (BES-2008-005772), Spain.Peer Reviewe

Recombination of the porcine X chromosome : a high density linkage map

Linkage maps are essential tools for the study of several topics in genome biology. High density linkage maps for the porcine autosomes have been constructed exploiting the high density data provided by the PorcineSNP60 BeadChip. However, a high density SSCX linkage map has not been reported up to date. The aim of the current study was to build an accurate linkage map of SSCX to provide precise estimates of recombination rates along this chromosome and creating a new tool for QTL fine mapping. A female-specific high density linkage map was built for SSCX using Sscrofa10.2 annotation. The total length of this chromosome was 84.61 cM; although the average recombination rate was 0.60 cM/Mb, both cold and hot recombination regions were identified. A Bayesian probabilistic to genetic groups and revealed that the animals used in the current study for linkage map construction were likely to be carriers of X chromosomes of European origin. Finally, the newly generated linkage map was used to fine-map a QTL at 16 cM for intramuscular fat content (IMF) measured on longissimus dorsi. The sulfatase isozyme S gene constitutes a functional and positional candidate gene underlying the QTL effect. The current study presents for the first time a high density linkage map for SSCX and supports the presence of cold and hot recombination intervals along this chromosome. The large cold recombination region in the central segment of the chromosome is not likely to be due to structural differences between X chromosomes of European and Asian origin. In addition, the newly generated linkage map has allowed us to fine-map a QTL on SSCX for fat deposition. The online version of this article (doi:10.1186/s12863-014-0148-x) contains supplementary material, which is available to authorized users

Using genome wide association studies to identify common QTL regions in three different genetic backgrounds based on Iberian pig breed

One of the major limitation for the application of QTL results in pig breeding and QTN identification has been the limited number of QTL effects validated in different animal material. The aim of the current work was to validate QTL regions through joint and specific genome wide association and haplotype analyses for growth, fatness and premier cut weights in three different genetic backgrounds, backcrosses based on Iberian pigs, which has a major role in the analysis due to its high productive relevance. The results revealed nine common QTL regions, three segregating in all three backcrosses on SSC1, 0–3 Mb, for body weight, on SSC2, 3–9 Mb, for loin bone-in weight, and on SSC7, 3 Mb, for shoulder weight, and six segregating in two of the three backcrosses, on SSC2, SSC4, SSC6 and SSC10 for backfat thickness, shoulder and ham weights. Besides, 18 QTL regions were specifically identified in one of the three backcrosses, five identified only in BC_LD, seven in BC_DU and six in BC_PI. Beyond identifying and validating QTL, candidate genes and gene variants within the most interesting regions have been explored using functional annotation, gene expression data and SNP identification from RNASeq data. The results allowed us to propose a promising list of candidate mutations, those identified in PDE10A, DHCR7, MFN2 and CCNY genes located within the common QTL regions and those identified near ssc-mir-103-1 considered PANK3 regulators to be further analysed.info:eu-repo/semantics/publishedVersio

Validation of Backtable Graft Arterial Anastomosis Between Splenic Artery and Superior Mesenteric Artery: A 21-year Single-center Experience of Pancreas Transplantation

Resumen del trabajo presentado en el IPITA 2021 VIRTUAL CONGRESS, celebrado de forma virtual del 20 al 23 de octubre de 2021Aim: To determine the role of the arterial spleno-mesenteric anastomosis reconstruction technique compared to other types of backtable arterial anastomosis, in terms of vascular complications and long-term patient and graft survival in a single institution. Methods: Retrospective analysis including all pancreas transplants performed over 21 years (1999–2019). For the bench reconstruction: (1) the distal superior mesenteric artery (SMA) was distally dissected and sewn to the splenic artery (SA), or (2) the arteries were reconstructed with an iliac arterial “Y” graft. Results: A total of 412 pancreas transplantations were done. At the bench procedure SMA/SA anastomosis was performed in 376 of patients, arterial iliac “Y” graft in 32 of patients, and no arterial reconstruction was required in 4 of patients. A total of 90 patients presented vascular complications within the 30 days following transplant: (venous (n=64), arterial (n=11), both (n=15), without statistically significant differences between the SMA/SA anastomosis group and others. Regarding acute arterial events:(1) for the SMA/SA anastomosis group, a total of 24 patients presented with thrombosis (n=16), stenosis (n=5), pseudoaneurysm (n=2); (2) for the iliac “Y” graft group, there were 3 patients with thrombosis. Focusing on chronic arterial events:(1)for the SMA/SA anastomosis group, a total of 2 patients presented with chronic thrombosis, 2 with pseudoaneurysm, 2 with arterioenteral fistula and one with arteriovenous fistula;(2)for the iliac “Y” graft group, and one patient with arterioenteral fistula. After a median follow-up of 129.2 [77.2–182] months, no statically differences were found between SMA/SA anastomosis and iliac “Y” graft arterial reconstruction groups at 1, 3, 5 and 10 years in terms of patient and graft survival. Conclusions: The back table procedure used in our institution (SMA/SA) is an easy, effective and safe surgical technique that can be used as the first option for arterial reconstruction or as a good alternative for surgeons to the widely used arterial “Y” graft.Peer reviewe

Association between the pig genome and its gut microbiota composition

The gut microbiota has been evolving with its host along the time creating a symbiotic relationship. In this study, we assess the role of the host genome in the modulation of the microbiota composition in pigs. Gut microbiota compositions were estimated through sequencing the V3-V4 region of the 16S rRNA gene from rectal contents of 285 pigs. A total of 1,261 operational taxonomic units were obtained and grouped in 18 phyla and 101 genera. Firmicutes (45.36%) and Bacteroidetes (37.47%) were the two major phyla obtained, whereas at genus level Prevotella (7.03%) and Treponema (6.29%) were the most abundant. Pigs were also genotyped with a high-throughput method for 45,508 single nucleotide polymorphisms that covered the entire pig genome. Subsequently, genome-wide association studies were made among the genotypes of these pigs and their gut microbiota composition. A total of 52 single-nucleotide polymorphisms distributed in 17 regions along the pig genome were associated with the relative abundance of six genera; Akkermansia, CF231, Phascolarctobacterium, Prevotella, SMB53, and Streptococcus. Our results suggest 39 candidate genes that may be modulating the microbiota composition and manifest the association between host genome and gut microbiota in pigs.info:eu-repo/semantics/publishedVersio