Search results for "VARIATION"
showing 10 items of 2124 documents
Is there a linkage between metabolism and personality in small mammals? The root vole (Microtus oeconomus) example
2010
Significant inter-individual variation in the rate of animal metabolism is a widespread phenomenon that has started to accumulate general interest. Here we follow recent calls to focus on linkage between the variation in energy metabolism and animal personality. By using wild caught root voles as a study species, we examined the relationship between the behavioral patterns (assessed in open field test) and resting metabolic rate (RMR), both of which are known to show large individual differences and intra-individual consistency in voles. Our results showed only a weak relationship between personality traits and metabolism, since the most parsimonious model (according to AICc) explaining RMR…
Identifying a key host in an acanthocephalan-amphipod system.
2015
SUMMARYTrophically transmitted parasites may use multiple intermediate hosts, some of which may be ‘key-hosts’, i.e. contributing significantly more to the completion of the parasite life cycle, while others may be ‘sink hosts’ with a poor contribution to parasite transmission. Gammarus fossarum and Gammarus roeseli are sympatric crustaceans used as intermediate hosts by the acanthocephalan Pomphorhynchus laevis. Gammarus roeseli suffers higher field prevalence and is less sensitive to parasite behavioural manipulation and to predation by definitive hosts. However, no data are available on between-host differences in susceptibility to P. laevis infection, making it difficult to untangle the…
Caution on the assessment of intestinal parasitic load in studying parasite-mediated sexual selection: the case of Blackbirds coccidiosis.
2009
6 pages; International audience; The parasite-mediated sexual selection (PMSS) theory has led to an increasing number of experimental studies essentially focussed on blood parasites. Currently, more research is being carried out on intestinal parasites in relationship to this theory. Before testing the theory with gastrointestinal parasites, it is important: (i) to determine an optimal research methodology to obtain an accurate assessment of parasite burden and (ii) to have information about life-history traits of the parasite to interpret data appropriately. In this study, we present data on oocyst output of Isosporaturdi in the faeces of blackbirds (Turdus merula) that illustrate the impo…
Intra‐ and Intersexual Trade‐Offs between Testosterone and Immune System: Implications for Sexual and Sexually Antagonistic Selection
2010
International audience; Parasites indirectly affect life-history evolution of most species. Combating parasites requires costly immune defenses that are assumed to trade off with other life-history traits. In vertebrate males, immune defense is thought to trade off with reproductive success, as androgens enhancing sexual signaling can suppress immunity. The phenotypic relationship between male androgen levels and immune function has been addressed in many experimental studies. However, these do not provide information on either intra- or intersex genetic correlations, necessary for understanding sexual and sexually antagonistic selection theories. We measured male and female humoral antibod…
Genome-wide analysis in endangered populations: a case study in Barbaresca sheep
2017
Analysis of genomic data is becoming increasingly common in the livestock industry and the findings have been an invaluable resource for effective management of breeding programs in small and endangered populations. In this paper, with the goal of highlighting the potential of genomic analysis for small and endangered populations, genome-wide levels of linkage disequilibrium, measured as the squared correlation coefficient of allele frequencies at a pair of loci, effective population size, runs of homozygosity (ROH) and genetic diversity parameters, were estimated in Barbaresca sheep using Illumina OvineSNP50K array data. Moreover, the breed's genetic structure and its relationship with oth…
Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes
2021
Survival in high-risk neuroblastoma (HR-NB) patients remains poor despite multimodal treatment. We aimed to identify HR-NB patients with worse outcomes by analyzing the genomic instability derived from segmental chromosomal aberrations. We calculated 3 genomic instability indexes for primary tumor SNP array profiles from 127 HR-NB patients: (1) Copy number aberration burden (%gainslength+%losseslength), (2) copy number load (CNL) (%gainslength-%losseslength) and (3) net genomic load (NGL) (%gainsamount-%lossesamount). Tumors were classified according to positive or negative CNL and NGL genomic subtypes. The impact of the genomic instability indexes on overall survival (OS) was assessed with…
KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern
2019
BACKGROUND: The presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait, but molecular genetic determinants are unknown. METHODS: To identify genetic susceptibility loci for ERP, we performed a GWAS and meta-analysis in 2,181 cases and 23,641 controls of European ancestry. RESULTS: We identified a genome-wide significant (P < 5 × 10(–8)) locus in the potassium voltage-gated channel subfamily D member 3 (KCND3) gene that was successfully replicated in additional 1,124 cases and 12,510 controls. A subsequent joint meta-analysis of the discov…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
Inferring heterozygosity from ancient and low coverage genomes
2016
Abstract While genetic diversity can be quantified accurately from high coverage sequencing data, it is often desirable to obtain such estimates from data with low coverage, either to save costs or because of low DNA quality, as is observed for ancient samples. Here, we introduce a method to accurately infer heterozygosity probabilistically from sequences with average coverage &lt;1× of a single individual. The method relaxes the infinite sites assumption of previous methods, does not require a reference sequence, except for the initial alignment of the sequencing data, and takes into account both variable sequencing errors and potential postmortem damage. It is thus also applicable to …
Prevalence of pathogenic copy number variants among children conceived by donor oocyte.
2021
AbstractDevelopment of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medical procedures. We have retrospectively analyzed both the fertilization method and the microarray results in all those children born between 2010 and 2019 with multiple congenital anomalies, developmental delay and/or autistic spectrum disorder (n = 486) referred for array study in our center. This analysis showed a significant excess of pathogenic copy number variants among those patients conceived after in vitro fertilization with donor …