Effects of condensed tannins from sainfoin on the milk fatty acid profile of ewes.

Abstract M136 There is an increased interest in using local fodder legumes to improve the self-sufficiency of feed for livestock. Sainfoin (Onobrychis viciifolia) is a typical high-quality crop of Mediterranean areas with a medium-high content of condensed tannins (CT), however their effects on milk composition are not well known. The aim of the study was to evaluate the effect of CT from fresh sainfoin on milk production, chemical composition, and fatty acids during 4 wk of lactation. Twenty pairs dam-lamb were individually fed fresh sainfoin ad libitum plus 200 g/d of barley. The distribution of pairs dam-lamb were done according to ewe’s BW (60.7 ± 6.15 kg BW) and BCS (3.3 ± 0.57), lambing date (06/04/2019 ± 0.95) and lamb weight at birth (4.1 ± 0.64 kg BW). Half of the ewes were daily orally dosed 100 g of PEG 4000/200 mL water per ewe as a tannin-binding agent (SF+PEG) and the other half received only water (SF). Once a week, ewes were milked and samples of sainfoin and milk were obtained and analyzed for chemical composition and individual fatty acids (FAs). The total saturated FA (SFA), monounsaturated FA (MUFA), polyunsaturated FA (PUFA), PUFA n-3 and PUFA n-6 were calculated. The sums and the major FA were analyzed using mixed models, with week of lactation as fixed and ewe as random effects using the SAS statistical software (SAS v.9.3)..

Significant loss of mitochondrial diversity within the last century due to extinction of peripheral populations in eastern gorillas

Species and populations are disappearing at an alarming rate as a direct result of human activities. Loss of genetic diversity associated with population decline directly impacts species' long-term survival. Therefore, preserving genetic diversity is of considerable conservation importance. However, to assist in conservation efforts, it is important to understand how genetic diversity is spatially distributed and how it changes due to anthropogenic pressures. In this study, we use historical museum and modern faecal samples of two critically endangered eastern gorilla taxa, Grauer's (Gorilla beringei graueri) and mountain gorillas (Gorilla beringei beringei), to directly infer temporal changes in genetic diversity within the last century. Using over 100 complete mitochondrial genomes, we observe a significant decline in haplotype and nucleotide diversity in Grauer's gorillas. By including historical samples from now extinct populations we show that this decline can be attributed to the loss of peripheral populations rather than a decrease in genetic diversity within the core range of the species. By directly quantifying genetic changes in the recent past, our study shows that human activities have severely impacted eastern gorilla genetic diversity within only four to five generations. This rapid loss calls for dedicated conservation actions, which should include preservation of the remaining peripheral populations.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering sCNVs at loci recurrently mutated in clonal blood disorders. Likely early-developmental sCNVs were more common in cases (0.91%) than controls (0.51%, p = 2.68e−4), with recurrent somatic deletions of exons 1–5 of the NRXN1 gene in five SCZ cases. Hi-C maps revealed ectopic, allele-specific loops forming between a potential cryptic promoter and non-coding cis-regulatory elements upon 5′ deletions in NRXN1. We also observed recurrent intragenic deletions of ABCB11, encoding a transporter implicated in anti-psychotic response, in five treatment-resistant SCZ cases and showed that ABCB11 is specifically enriched in neurons forming mesocortical and mesolimbic dopaminergic projections. Our results indicate potential roles of sCNVs in SCZ risk

Somatic mutations detected in Parkinson disease could affect genes with a role in synaptic and neuronal processes

The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease's phenotype. To explore the relevance of embryonic somatic mutations in sporadic Parkinson disease, we performed whole-exome sequencing in blood and four brain regions of ten patients. We identified 59 candidate somatic single nucleotide variants (sSNVs) through sensitive calling and a careful filtering strategy (COSMOS). We validated 27 of them with amplicon-based ultra-deep sequencing, with a 70% validation rate for the highest-confidence variants. The identified sSNVs are in genes with synaptic functions that are co-expressed with genes previously associated with Parkinson disease. Most of the sSNVs were only called in blood but were also found in the brain tissues with ultra-deep amplicon sequencing, demonstrating the strength of multi-tissue sampling designs.This work was supported by the grants from the Spanish MINECO and MICIN (SAF2016-76340R and PID2019-106764RB-C21, Excellence Unit María de Maeztu/Institute of Neurosciences), CIBERNED (ISCIII), and by the “Fundación Reina Sofía” (Exome Project) awarded to ES, by RTI 2018-096824-B-C22 grant from Agencia estatal de Investigación- Spanish Ministry of Science, Innovation and Universities co-financed by FEDER, and by Direcció General de Recerca, Generalitat de Catalunya (2017SGR-702) to FC, MS-M is supported by the Ministerio de Economía y Competitividad, Spain (Maria de Maetzu grant MDM-2014-0370-16-3). PE-C was supported by a Formació de Personal Investigador fellowship from Generalitat de Catalunya (FI_B00122). RR is funded by Cancer Research UK (C66259/A27114)

A diminutive perinate European Enantiornithes reveals an asynchronous ossification pattern in early birds

Fossils of juvenile Mesozoic birds provide insight into the early evolution of avian development, however such fossils are rare. The analysis of the ossification sequence in these early-branching birds has the potential to address important questions about their comparative developmental biology and to help understand their morphological evolution and ecological differentiation. Here we report on an early juvenile enantiornithine specimen from the Early Cretaceous of Europe, which sheds new light on the osteogenesis in this most species-rich clade of Mesozoic birds. Consisting of a nearly complete skeleton, it is amongst the smallest known Mesozoic avian fossils representing post-hatching stages of development. Comparisons between this new specimen and other known early juvenile enantiornithines support a clade-wide asynchronous pattern of osteogenesis in the sternum and the vertebral column, and strongly indicate that the hatchlings of these phylogenetically basal birds varied greatly in size and tempo of skeletal maturation