Body Wall Defects: Gastroschisis and Omphalocoele in Pigs (Sus scrofa domesticus).

Body wall defects (BWDs) are not well studied and categorized in veterinary medicine. BWDs can be an isolated occurrence, but often occur with other major developmental abnormalities. Thirty-two body wall malformations of domestic pigs (Sus scrofa domesticus) are presented and classified, distinguishing between body wall dysplasia (umbilical hernia, abdominal wall distension and gastroschisis), omphalocoele and thoracoabdominoschisis (Cantrell syndrome, shistosomus reflexus, body stalk anomalies).

Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus.

The nuclear receptor corepressor Hairless (HR) interacts with nuclear receptors and controls expression of specific target genes involved in hair morphogenesis and hair follicle cycling. Patients with HR gene mutations exhibit atrichia, and in rare cases, immunodeficiency. Pigs with HR gene mutations may provide a useful model for developing therapeutic strategies because pigs are highly similar to humans in terms of anatomy, genetics, and physiology. The present study aimed to knockout the HR gene in pigs using the clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated-9 (Cas9) system and to investigate the molecular and structural alterations in the skin and thymus. We introduced a biallelic mutation into the HR gene in porcine fetal fibroblasts and generated nine piglets via somatic cell nuclear transfer. These piglets exhibited a lack of hair on the eyelids, abnormalities in the thymus and peripheral blood, and altered expression of several signaling factors regulated by HR. Our results indicate that introduction of the biallelic mutation successfully knocked out the HR gene, resulting in several molecular and structural changes in the skin and thymus. These pigs will provide a useful model for studying human hair disorders associated with HR gene mutations and the underlying molecular mechanisms.

Symmetric undivided diplopagus with cardiac malformation in a Japanese wild boar (Sus scrofa leucomystax).

A captured Japanese wild boar (Sus scrofa leucomystax) fetus was dicephalic. The fetus had two heads, but one body from the cranial neck region. Computed tomography imaging revealed that the two crania merged at the occipital bone, and the vertebral bodies between the atlas and the seventh thoracic vertebra were deformed. The fetus was found to have two tongues and laryngopharynges, but its esophagus and trachea were not duplicated. Each head contained a cerebrum and cerebellum, but the brains merged at the obex of the medulla oblongata, and the cervical spinal cord had duplicated ventral clefts. The heart was composed of three atria and four ventricles. This is the first report of a dicephalus with cardiac malformation in a wild boar.

Skull asymmetries in wild boar (Sus scrofa LINNAEUS, 1758) / Assimetrias do crânio de javalis (Sus scrofa LINNAEUS, 1758)

Organisms can develop different kinds of asymmetry when deviations from expected perfect symmetry occur. Among others are fluctuating asymmetry (FA) and directional asymmetry (DA). FA represents small random differences between corresponding parts on the left and right sides of an individual in bilaterally paired structures. It is thought that FA reflects an organism's ability to cope with genetic and environmental stress during growth. DA occurs whenever one side on the plane of symmetry develops more than the other side, and has a genetic component. In this research, we examined the expression of morphological symmetry in 38 skulls of different age groups of wild boar (Sus scrofa), on their ventral aspect, using two-dimensional coordinates of 27 landmarks. Analyses showed the presence of significant FA and DA in the entire sample, detecting also distinctive differences between age groups. The obtained results show that the shape differences in different age groups could reasonably be a consequence of a response to environmental factors for FA and a masticatory lateralization for DA.(AU)

Os organismos podem desenvolver diferentes tipos de assimetria quando ocorrem desvios da pefeita simetria esperada. Entre os diversos tipos de assimetria existentes duas merecem especial destaque: a flutuante (AF) e a directional (AD). A AF é representada por pequenas diferenças casuais entre as partes correspondents das laterais direita e esquerda de um indivíduo em estruturas pareadas bilateralmente; acredita-se que elas reflitam a habilidade de um organismo adaptar-se a fatores estressantes genéticos e ambientais observados durante o seu crescimentos. A AD ocorre quando um lado da assimetria plana desenvolve-se mais do que o outro e há um componente genético. No presente trabalho foi analisada a expresssão da simetria morfológica de 38 crânios de diferentes grupos etários de javalis (Sus scrofa), nos seus aspectos ventrais, com o emprego de duas coordenadas dimensionais de 27 pontos anatômicos homólogos. As análises efetuadas revelaram a existência de valores significantes de AF e AD em toda a amostra trabalhada, detectando inclusive diferenças entre os grupos etários. Os resultados obtidos demonstraram que as diferentes formas observadas nos diferentes grupos etários podem ser consequência de uma resposta a fatores ambientais para a AF e a lateralização da mastigação para a AD.(AU)

Ejaculated boar spermatozoa displaying a rare multivesicular defect.

Two cases of a previously unreported sperm defect appearing in boar studs in Finland are presented. Spermatozoa showed small particles scattered on their surface with a prevalence decreasing with boar age. Semen samples, either stained with eosin-nigrosin or examined with phase contrast optics on formaldehyde-fixed spermatozoa, revealed the presence of multiple particles attached to the surface of spermatozoa counted as dead cells at fixation. Transmission electron microscopy revealed these were multivesicular and multilamellar vesicles, built up by phospholipid membranes. The case is classified as a post-epididymal multivesicular sperm defect with a favorable prognosis.

Genome-wide association study identifies candidate genes for piglet splay leg syndrome in different populations.

BACKGROUND: Piglet splay leg syndrome (PSL) is one of the most frequent genetic defects, and can cause considerable economic loss in pig production. The present understanding of etiology and pathogenesis of PSL is poor. The current study focused on identifying loci associated with PSL through a genome-wide association study (GWAS) performed with the Illumina Porcine60 SNP Beadchip v2.0. The study was a case/control design with four pig populations (Duroc, Landrace, Yorkshire and one crossbred of Landrace × Yorkshire). RESULT: After quality control of the genotyping data, 185 animals (73 cases, 112 controls) and 43,495 SNPs were retained for further analysis. Principal components (PCs) identified from the genomic kinship matrix were included in the statistical model for correcting the effect of population structure. Seven chromosome-wide significant SNPs were identified on Sus scrofa chromosome 1 (SSC1), SSC2 (2 SNPs), SSC7, SSC15 (2 SNPs) and SSC16 after strict Bonferroni correction. Four genes (HOMER1 and JMY on SSC2, ITGA1 on SSC16, and RAB32 on SSC1) related to muscle development, glycogen metabolism and mitochondrial dynamics were identified as potential candidate genes for PSL. CONCLUSIONS: We identified seven chromosome-wide significant SNPs associated with PSL and four potential candidate genes for PSL. To our knowledge, this is the first pilot study aiming to identify the loci associated with PSL using GWAS. Further investigations and validations for those findings are encouraged.

Do umbilical outpouchings affect the behaviour or clinical condition of pigs during 6 h housing in a pre-transport pick-up facility?

This study focused on behavioural and clinical effects of umbilical outpouchings (UOs) in pigs. Matched pairs of pigs with UOs (diameter 12 cm; range 4-20; diagnosed p.m. as hernia or non-hernia) and controls (N=28) were compared during a 6-h stay in a pick-up facility. Overall, skin lesion scores were increased after the 6-h stay. Behaviour of the UO-pigs differed from the controls (a shorter latency to lie down (P<0.05) and decreased aggression (P<0.05)). Pigs with umbilical hernia showed e.g. increased sitting (P<0.05) and decreased lying (P<0.05) compared to pigs with non-hernia UOs. No effects of the size of the OUs were found. These results are among the first to establish knowledge about UO-pigs and suggest that a stay in a pick-up facility can be challenging for pig welfare. The behavioural findings suggest that UO-pigs, and especially pigs with hernia, may be less fit for mixing and housing in barren environments.

Association of parathyroid hormone-like hormone (PTHLH) and its receptor (PTHR1) with the number of functional and inverted teats in pigs.

Parathyroid hormone-like hormone gene (PTHLH) and its receptor, parathyroid hormone/ parathyroid hormone-like hormone receptor 1 (PTHR1), play a role in epithelial mesenchymal interactions during growth and differentiation of different tissues and anatomic structures, including teats. Therefore, PTHLH and PTHR1 were evaluated as functional candidate genes for their effects on number and shape of teats in pigs. In particular, focus was on the occurrence and number of inverted teats, the most frequent and economically relevant teat developmental defect in pigs. For this purpose, association and linkage of the PTHLH gene and the PTHR1 gene with inverted teat defect and the total number of teats and inverted teats were studied in an experimental Duroc and Berlin Miniature pig (DUMI) population. Polymorphism C1819T of PTHR1 was significantly associated with inverted teat phenotype (p = 0.014), total number of teats (p = 0.047) and was close to significance with the number of inverted teats (p = 0.078). Polymorphism C375T of PTHLH was close to significance with the inverted teat phenotype (p = 0.122) and showed no significant association with the total number of teats (p = 0.621) and the number of inverted teats (p = 0.256) in the DUMI population. Association analyses were also performed for combined effects of PTHLH and PTHR1 in order to address potential interaction, however, revealed no indication of effects of interaction. The function, position and the association shown here promote PTHR1 as a candidate gene for number of teats and in particular for affection by and number of inverted teats.