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Abstract Honey bee, Apis mellifera, drones are typically haploid, developing from an unfertilized egg, inheriting only their queen’s alleles and none from the many drones she mated with. Thus the ordered combination or ‘phase’ of alleles is known, making drones a valuable haplotype resource. We collated whole-genome sequence data for 1,407 drones, including 45 newly sequenced Scottish drones, collectively representing 19 countries, 8 subspecies and various hybrids. Following alignment to Amel_HAv3.1, variant calling and quality filtering, we retained 17.4 M high quality variants across 1,328 samples with a genotyping rate of 98.7%. We demonstrate the utility of this haplotype resource, AmelHap, for genotype imputation, returning >95% concordance when up to 61% of data is missing in haploids and up to 12% of data is missing in diploids. AmelHap will serve as a useful resource for the community for imputation from low-depth sequencing or SNP chip data, accurate phasing of diploids for association studies, and as a comprehensive reference panel for population genetic and evolutionary analyses.

Measurement(s) Optical Mapping Technology Type(s) Optical Mapping Factor Type(s) Structural variants Sample Characteristic - Organism Bos taurus Sample Characteristic - Location United Kingdom • Kenya • Zambia • Uganda • Brazil • Nigeria

Cattle reference genomes are valuable resources but are currently heavily biased towards European breeds. Here the authors integrate assemblies for African breeds into a more representative cattle graph genome capturing global breed diversity.

Livestock guarding dogs are a valuable adjunct to the pastoral community. Having been traditionally selected for their working ability, they fulfil their function with minimal interaction or command from their human owners. In this study, the population structure and the genetic differentiation of three Italian livestock guardian breeds (Sila’s Dog, Maremma and Abruzzese Sheepdog and Mannara’s Dog) and three functionally and physically similar breeds (Cane Corso, Central Asian Shepherd Dog and Caucasian Shepherd Dog), totalling 179 dogs unrelated at the second generation, were investigated with 18 autosomal microsatellite markers. Values for the number of alleles per locus, observed and expected heterozygosity, Hardy–Weinberg Equilibrium, F stats, Nei’s and Reynold’s genetic distances, clustering and sub-population formation abilities and individual genetic structures were calculated. Our results show clear breed differentiation, whereby all the considered breeds show reasonable genetic variability despite small population sizes and variable selection schemes. These results provide meaningful data to stakeholders in specific breed and environmental conservation programmes.

The genus Plagyrona Gittenberger, 1977, includes only two small species of terrestrial snail: Plagyrona angusta Holyoak and Holyoak, 2012, and Plagyrona placida (Shuttleworth, 1852). While P. angusta is known only from Portugal, P. placida has a vast but fragmented distribution: it is known from some of the Macaronesian islands (Madeira and the Canary Archipelago) and some European countries: Portugal, France (in Corsica only), Italy (including Sardinia and the Tuscan Archipelago), Albania, Greece (in the Ionian Islands only) and North Africa (Algeria). New research has led to redefine the distribution range of P. angusta, identifying new populations in Spain (Balearic Islands), continental France (Var department), southern Italy (Campania), Sardinia and Greece (Kerkyra Island) and to discover new sites of P. placida on Pantelleria island and of Plagyrona spp. in Zannone island and southern Italy. The specific determination of these and others populations by examination of recent literature from Sardinia, Campania and Calabria, was carried out on a morphometric basis, but, for some populations, the variability of the diagnostic characters and the limited number of available specimens, do not allow a precise assignment. On the other hand, the existence of two distinct species is not evident at all, at least in the Mediterranean countries.

A wide spectrum of anomalies of the pancreas, the pancreatic ductal system and the biliary tree are commonly encountered at radiologic evaluation. Pancreas bifidum, also known as bifid pancreas or fish-tail pancreas, is an extremely rare congenital branching anomaly of the main pancreatic duct characterized by its duplication. These 2 separate ducts are laid from the pancreatic tail to neck and they generally join at the pancreas body-tail draining via the major papilla; the pancreatic parenchyma is also bifurcated with separated dorsal and caudal buds. The clinical impact of this condition is not well established: although some authors sustained that probably does not cause or contribute to abdominal pain or overt pancreatic diseases, others argued that could be considered as a possible cause of acute pancreatitis.We herewith describe the case of a 51-year-old woman presenting to our hospital with epigastric pain, nausea, and vomiting. Biochemical tests were suspicious for acute pancreatitis. Ultrasound examination was negative. MRI, including MR cholangiopancreatography revealed bifid pancreas characterized by duplication of the main pancreatic duct with 2 separate ducts that join at the pancreas head and draining via the minor papilla. On T2-weighted images the ventral bud of the pancreas was enlarged and characterized by slightly hyperintensity without peripancreatic fluid collections. The MRI findings were consistent with acute pancreatitis limited to the ventral bud of a bifid pancreas. Patient was treated with intravenous fluid resuscitation, pain control and institution of early enteral nutrition and discharged on the seventh day after admission.

Abstract Background In cattle, genome-wide association studies (GWAS) have largely focused on European or Asian breeds, using genotyping arrays that were primarily designed for European cattle. Because there is growing interest in performing GWAS in African breeds, we have assessed the performance of 23 commercial bovine genotyping arrays for capturing the diversity across African breeds and performing imputation. We used 409 whole-genome sequences (WGS) spanning global cattle breeds, and a real cohort of 2481 individuals (including African breeds) that were genotyped with the Illumina high-density (HD) array and the GeneSeek bovine 50 k array. Results We found that commercially available arrays were not effective in capturing variants that segregate among African indicine animals. Only 6% of these variants in high linkage disequilibrium (LD) (r2 > 0.8) were on the best performing arrays, which contrasts with the 17% and 25% in African and European taurine cattle, respectively. However, imputation from available HD arrays can successfully capture most variants (accuracies up to 0.93), mainly when using a global, not continent-specific, reference panel, which partially reflects the unusually high levels of admixture on the continent. When considering functional variants, the GGPF250 array performed best for tagging WGS variants and imputation. Finally, we show that imputation from low-density arrays can perform almost as well as HD arrays, if a two-stage imputation approach is adopted, i.e. first imputing to HD and then to WGS, which can potentially reduce the costs of GWAS. Conclusions Our results show that the choice of an array should be based on a balance between the objective of the study and the breed/population considered, with the HD and BOS1 arrays being the best choice for both taurine and indicine breeds when performing GWAS, and the GGPF250 being preferable for fine-mapping studies. Moreover, our results suggest that there is no advantage to using the indicus-specific arrays for indicus breeds, regardless of the objective. Finally, we show that using a reference panel that better represents global bovine diversity improves imputation accuracy, particularly for non-European taurine populations.

East Coast fever, a tick-borne cattle disease caused by the Theileria parva parasite, is among the biggest natural killers of cattle in East Africa, leading to over 1 million deaths annually. Here we report on the genetic analysis of a cohort of Bos indicus (Boran) cattle demonstrating heritable tolerance to infection with T. parva (h2 = 0.65, s.e. 0.57). Through a linkage analysis we identify a 6 Mb genomic region on bovine chromosome 15 that is significantly associated with survival outcome following T. parva exposure. Testing this locus in an independent cohort of animals replicates this association with survival following T. parva infection. A stop gained variant in a paralogue of the FAF1 gene in this region was found to be highly associated with survival across both related and unrelated animals, with only one of the 20 homozygote carriers (T/T) of this change succumbing to the disease in contrast to 44 out of 97 animals homozygote for the reference allele (C/C). Consequently, we present a genetic locus linked to tolerance of one of Africa's most important cattle diseases, raising the promise of marker-assisted selection for cattle that are less susceptible to infection by T. parva.

Cirneco dell’Etna is an old Italian breed of scent hunting dogs. Commonly used genomic measures such as heterozygosity, fixation indexes, and runs of homozygosity can help to improve knowledge about its genetic diversity. This study aimed to: (i) investigate Cirneco’s genomic background, (ii) quantify its genomic inbreeding, and (iii) detect genomic regions differentiating the Cirneco’s two allowed coat colours, self-coloured fawn and tan and white. Canine 230 K SNP BeadChips was used to investigate 24 Cirneco (19 self-coloured fawn, and 5 tan and white) and other 106 dogs from eight phylogenetically and historically related breeds. The genetic distance, ancestry, and relationship among breeds were explored by multidimensional scaling, Reynolds distances, phylogenetic tree, and admixture analysis. The genomic inbreeding (FROH) was calculated for each breed. Averaged Wright’s fixation index ST was used to identify the genes that most differentiated the two groups of Cirneco. All analyses highlighted that Segugio Italiano and Kelb tal Fenek are the closest breeds to Cirneco. Within the breed, tan and white subjects showed a more heterogeneous genetic background and a lower inbreeding in comparison with self-coloured fawn ones, even though more than half of the latter presented a superimposable admixture. The gene that most differentiated these two groups is Microphthalmia-Associated Transcription Factor (MITF), previously associated with white spotting in other breeds. Given the small size of the Cirneco population and its open registry, its management should carefully combine morphological and genealogical evaluations with genetic tools to identify the best breeders while maintaining an acceptable genetic pool.Highlights The genomic analysis demonstrated that Segugio Italiano and Kelb tal Fenek are genetically related to the Cirneco. The MITF gene is responsible for white blazing in Cirneco as in many other dog breeds. Genomic tools should be integrated with phenotypic and genealogic evaluations in the management of Italian autochthonous dog breeds to safeguard their welfare and biodiversity.

Concentration of production on a few commercial pig breeds has led to the marginalization of many native, numerically small breeds, increasing their risk of endangerment. In the UK, one such rare breed is the British Lop, a lop-eared breed, of similar origin to the Welsh breed. The objective of the present study was to address the genomic status of the British Lop and its relationship with other breeds and identify a small set of genomic markers that uniquely characterize and distinguish British Lop animals. Results have shown that the British Lop is a relatively distinct population with reduced genomic diversity and effective size consistent with its status as a rare breed. Furthermore, we demonstrated the genetic closeness of the British Lop to phenotypically similar breeds such as Landrace and Welsh as well Large White, Middle White and Pietrain. Finally, a set of 75 Single Nucleotide Polymorphisms distributed across multiple chromosomes were identified and validated as markers that can consistently distinguish British Lops from other closely related breeds. Results may inform breeding and management strategies aiming to enhance diversity as well as the development of a breed purity test.