Unravelling the evolutionary history and adaptation of European mouflon and some domestic sheep populations with special emphasis on the ovines of Sardinia

After being transported into Europe during the Neolithic, mouflon (Ovis aries musimon) became extinct from mainland Europe, but remnant populations persisted and became feral on the Mediterranean islands of Corsica and Sardinia. These populations have been used for reintroductions across continental Europe during the last 200 years. This thesis aimed to investigate the global and local ancestry of European mouflon and domestic sheep, to investigate signals of artificial and natural selection in their genomes, and to develop analytical frameworks and informatic tools to aid similar analyses using SNP array data. I describe the development of software that allows rapid investigation of genome-wide SNP data to infer effective population size trajectories using patterns of linkage disequilibrium. I inferred the absence of widespread sheep introgression in extant European mouflon populations although signals of recent introgression were recorded in one enclosed Sardinian mouflon population. By applying a novel approach to aid the investigation of local genomic ancestry data, signals of mouflon ancestry in sheep could be inferred and were found to be related to biological functions involved with innate immunity processes with bitter taste recognition being identified in two breeds known for their broad dietary choices. By investigating signals of positive selection and local adaptation in feral and domestic sheep using novel locus-specific empirical p-value inference, traits with selection signatures such as fertility, pigmentation and behaviour were identified in sheep, while traits involved with stature - probably related to mating success - were found in mouflon. Signals of local adaptation to environmental variables were not detected, which is likely to be due to the inadequate sample available, determined by post-hoc analysis

Skeletal Anomalies and Normal Variants in Patients with Palatally Displaced Canines

Objective: To test the null hypothesis that there is no increased prevalence of skeletal anomalies and/or normal variants as evidenced by the cephalometric radiographs of patients with palatally displaced canines (PDC). Materials and Methods: The treatment records of 38 white subjects between 14 and 20 years old with PDC were collected and evaluated retrospectively. Inclusion criteria for the study required that the case records include good-quality panoramic radiographs and lateral cephalometric radiographs with the first four cervical vertebrae clearly visible. The anomalies recorded for each case included sella bridge, atlanto-occipital ligament calcification or ponticulus posticus, and posterior arch atlas deficiency. A control group consisted of 70 consecutively treated subjects who had no other dental anomalies and whose maxillary canines had erupted normally. Fisher's exact test and Pearson's chi-square test were used to determine possible statistically significant differences in the incidence of skeletal anomalies and/or normal variants between the group of patients with PDC and the control group. Results: The prevalence of skull anomalies and normal variants seen in cephalometric radiographs was increased in patients with PDC. Because of the presence of ponticulus posticus (Pearson's chi-square, P < .050; Fisher's exact test, P < .052), sella bridge (Pearson's chi-square, P < .042; Fisher's exact test, P < .042), and posterior arch deficiency (Pearson's chi-square, P < .047; Fisher's exact test, P < .039), statistically significant differences were observed between subjects with PDC and the control group. Conclusions: The null hypothesis was rejected. There is an increased prevalence of skull skeletal anomalies and/or normal variants in patients with PDC. (Angle Orthod. 2009;79:727-732.

Editorial: Small ruminant breeding in the age of genomics

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SNeP: a tool to estimate trends in recent effective population size trajectories using genome-wide SNP data

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Thermographic Control of Pediatric Dental Patients During the SARS-CoV-2 Pandemics Using Smartphones

Objective: To evaluate the reliability of infrared (IR) thermal camera connected to smartphones, already used in medicine for diagnostic purposes, as an easy tool for access screening to pediatric dentistry services. Material and Methods: After the preventive telephone triage, thirty orthodontic patients (7-13 years) underwent temperature measurement in the office with two no-contact IR devices: forehead digital thermometer and thermal-camera connected to a smartphone (reference areas: forehead, inner canthi, ears). Measurements were compared and differences were statistically investigated with T student’s test (p&lt;0.01). Results: Forehead digital thermometer temperatures were superimposable to those recorded in ear areas and inner canthi with the thermal camera connected to a smartphone. Differences were not statistically significant even in comparison between the sexes. Forehead temperature values detected with a thermal camera are lower than those detected with a digital forehead thermometer. Conclusion: Thermal camera on a smartphone could be reliable in measuring body temperature. Mobile thermographic values of ears and inner canthi areas can be used as an alternative to forehead digital thermometer measurements. Further applications in pediatric dentistry of thermography on smartphones should be examined

Demography and rapid local adaptation shape Creole cattle genome diversity in the tropics

The introduction of Iberian cattle in the Americas after Columbus’ arrival imposed high selection pressures on a limited number of animals over a brief period of time. Knowledge of the genomic regions selected during this process may help in enhancing climatic resilience and sustainable animal production. We first determined taurine and indicine contributions to the genomic structure of modern Creole cattle. Second, we inferred their demographic history using approximate Bayesian computation (ABC), linkage disequilibrium (LD), and Ne Slope (NeS) analysis. Third, we performed whole genome scans for selection signatures based on cross‐population extended haplotype homozygosity (XP‐EHH) and population differentiation (FST) to disentangle the genetic mechanisms involved in adaptation and phenotypic change by a rapid and major environmental transition. To tackle these questions, we combined SNP array data (~54,000 SNPs) in Creole breeds with their modern putative Iberian ancestors. Reconstruction of the population history of Creoles from the end of the 15th century indicated a major demographic expansion until the introduction of zebu and commercial breeds into the Americas ~180 years ago, coinciding with a drastic Ne contraction. NeS analysis provided insights into short‐term complexity in population change and depicted a decrease/expansion episode at the end of the ABC‐inferred expansion, as well as several additional fluctuations in Ne with the attainment of the current small Ne only towards the end of the 20th century. Selection signatures for tropical adaptation pinpointed the thermoregulatory slick hair coat region, identifying a new candidate gene (GDNF), as well as novel candidate regions involved in immune function, behavioural processes, iron metabolism and adaptation to new feeding conditions. The outcomes from this study will help in future‐proofing farm animal genetic resources (FAnGR) by providing molecular tools that allow selection for improved cattle performance, resilience and welfare under climate change

Effect of Maternal Smoking on Breast Milk Interleukin-1α, β-Endorphin, and Leptin Concentrations

Tobacco smoke is immunotoxic, but the effect of smoking on the immunologic function of the mammary gland of mothers who smoke cigarettes (“smoker mothers”) has not been studied. Our objective was to test, in smoker mothers, the colostral and transitional milk concentrations of interleukin-(IL)1α. The immunomodulators β-endorphin and leptin were also tested. Pregnant women who self-identified as smokers (≥ 5 cigarettes per day through pregnancy) or nonsmokers were recruited for study participation. The study population included 42 smoker and 40 non-smoker nursing mothers, with otherwise uncomplicated gestation, delivery, and puerperium, who were breast-feeding ad libitum their healthy neonates. Colostrum was obtained on the third postpartum day at 0900 hr and transitional milk on the 10th postpartum day at 0900 hr. IL-1α concentrations were significantly reduced in the colostrum of smoker mothers compared with nonsmoker mothers (p < 0.01). Colostral β-endorphin and leptin concentrations were comparable. No significant differences were found between smoker and nonsmoker lactating mothers in transitional milk concentrations of IL-1α, β-endorphin, and leptin. Moreover, β-endorphin and leptin concentrations were significantly reduced in transitional milk samples compared with colostrum of both smoker and nonsmoker mothers (p < 0.05); also, IL-1α transitional milk concentrations were reduced compared with colostrum, but without any significance. This analysis shows that maternal smoking alters the colostral milk levels of the proinflammatory cytokine IL-1α. The altered postnatal provision of alternative source of the proinflammatory cytokine IL-1α adds understanding to how breast-feeding could be nonprotective against infections among the neonates nursed by smoker mothers

Islands as Time Capsules for Genetic Diversity Conservation: The Case of the Giglio Island Mouflon

The use of multidisciplinary approaches of investigation including biological, biogeographical, historical, morphological, and genetic analysis, can be useful in identifying and preserving biodiversity. The present study focuses on the characterisation and conservation of a mouflon population (Ovis gmelini musimon) from the Mediterranean island of Giglio. Here we provide the first molecular data on the Giglio population and compare it with mouflons from Sardinia, Elba, and Corsica using both nuclear and mitochondrial markers. Our results suggest that the Giglio mouflon harbours genetic variability likely of Sardinian origin but not represented in the current Sardinian mouflon diversity. Although not presenting the typical characteristics of an invasive alien species, the Giglio mouflon is being subjected to eradication through culling or trapping and surgical sterilization. The molecular evidence we report highlights that such actions are causing the irremediable loss of ancestral genetic variants of the genus Ovis. Finally, we highlight how a multidisciplinary approach is necessary to aid the conservation and management of the anthropochorous populations of Mediterranean mammals

Genomic signatures of adaptive introgression from European mouflon into domestic sheep

Mouflon (Ovis aries musimon) became extinct from mainland Europe after the Neolithic, but remnant populations from the Mediterranean islands of Corsica and Sardinia have been used for reintroductions across Europe since the 19th-century. Mouflon x sheep hybrids are larger-bodied than mouflon, potentially showing increased male reproductive success, but little is known about genomic levels of admixture, or about the adaptive significance of introgression between resident mouflon and local sheep breeds. Here we analysed Ovine medium-density SNP array genotypes of 92 mouflon from six geographic regions, along with data from 330 individuals of 16 domestic sheep breeds. We found lower levels of genetic diversity in mouflon than in domestic sheep, consistent with past bottlenecks in mouflon. Introgression signals were bidirectional and affected most mouflon and sheep populations, being strongest in one Sardinian mouflon population. Developing and using a novel approach to identify chromosomal regions with consistent introgression signals, we infer adaptive introgression from mouflon to domestic sheep related to immunity mechanisms, but not in the opposite direction. Further, we infer that Soay and Sarda sheep carry introgressed mouflon alleles involved in bitter taste perception and/or innate immunity. Our results illustrate the potential for adaptive introgression even among recently diverged populations