Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal abnormalities, and developmental delay. We demonstrate that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase (MAPK) pathway cause CFC syndrome. The majority of cases (18 out of 23) are caused by mutations in BRAF, a gene frequently mutated in cancer. Of the 11 mutations identified, two result in amino acid substitutions that occur in tumors, but most are unique and suggest previously unknown mechanisms of B-Raf activation. Furthermore, three of five individuals without BRAF mutations had missense mutations in either MEK1 or MEK2, downstream effectors of B-Raf. Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome.     

Species relationships in the subgenus Ceratotropis (genus Vigna) as revealed by RAPD analysis

Summary The genetic variation among 23 accessions of 5 species in the subgenus Ceratotropis, genus Vigna, were investigated by random amplified polymorphic DNA (RAPD) analysis. A total of 404 fragments amplified with 24 primers were scored and analyzed by cluster analysis. The accessions used were separated into two main groups with an average of 70% differences. Within the main groups, five subgroups were recognized, which are in complete agreement with taxonomic species. Wild forms were always grouped with their most closely related cultivated forms and they showed variation in each species. The largest intraspecific variation was found in V. radiata (mungbean), in which wild forms (V. radiata var. sublobata) were highly different from each other and from cultivated forms. V. angularis (adzuki bean) showed the least variation and thus, was probably differentiated in relatively recent times.     

Anaemia, iron deficiency and vitamin A status among school-aged children in rural Kazakhstan

OBJECTIVES: To investigate the prevalence of anaemia and iron deficiency and vitamin A status among school-aged children in rural Kazakhstan and identify factors associated with anaemia in this population. DESIGN: A cross-sectional design. SETTING: School-aged children in rural Kazakhstan. SUBJECTS: Socio-economic and anthropometric information was collected from 159 school-aged children living in the Kzyl-Orda region of Kazakhstan. Blood samples were collected and the concentrations of haemoglobin (Hb), serum iron, serum ferritin (SF), erythrocyte protoporphyrin (EP), serum retinol and beta-carotene, total iron binding capacity (TIBC), transferrin saturation (TS) and other haematological indices were measured. RESULTS: Among the 159 children, the prevalence of anaemia and iron deficiency defined by the multiple criteria model (SF, TS and EP) was 27% and 13%, respectively. Nine per cent had iron-deficiency anaemia and 21% had serum retinol value < 1.05 micromol l(-1). Mean SF and serum iron concentrations and TS were significantly lower in anaemic children than in their non-anaemic peers, while TIBC and EP were significantly higher in children with anaemia. Hb was significantly correlated with serum iron and retinol concentrations. Serum retinol and SF concentrations and mean corpuscular volume were significantly correlated with Hb by multiple regression analysis. CONCLUSIONS: Anaemia among school-aged children in rural Kazakhstan appears to be related to iron indices and vitamin A status.     

Effect of dietary addition of seaweed and licorice on the immune performance of pigs

In pig production, dietary additive antibiotics are usually used for growth stimulation and disease prevention, although there is public concern about the increased incidence of resistant antibiotics and food safety. It is possible that such antibiotics might be replaced by naturally derived products such as seaweed and licorice. In this study, we evaluated the effect of dietary addition of seaweed and licorice on enhancing the immune function in swine. The animals of each group (eight animals per group) were sensitized at day 42 and 49, and the immunoglobulin production and the expression of cytokines were detected by the ELISA and real‐time PCR. As the results, saliva IgA production of the seaweed‐treated group increased around five times compared to that of control (day 56). Delayed hypersensitivity reaction and IgG production of the seaweed‐treated group increased around 1.8–2.0 times. In addition, enhanced saliva IgA production was detected at day 50 (around two times) and day 51 (around five times) by the licorice treatment, and lower expression level of tumor necrosis factor‐α messenger RNA at day 51 (around 1/25) was observed in the licorice treatment. We conclude that the replacement of antibiotics by naturally derived dietary additives might be feasible for immune system enhancement.     

Evaluation of genetic trends and determination of the optimal number of cumulative records of parity required in reproductive traits in a Large White pig population

Genetic improvement of the reproductive performance of pigs is important for pig breeding despite their low heritabilities. The objectives of this study were to investigate the effectiveness of selection concerning reproductive traits and to determine the optimal number of parity records required for accurate estimation of breeding values (BVs) in the open population of a commercial pig breeding company. The study used records of 2220 purebred Large White pigs (9845 litters) farrowed between 1998 and 2009 in the two herds of the Pacific Ocean Breeding Co. Ltd. The traits studied included farrowing interval (FI), total number of piglets at birth (TNB), average weaning weight per litter (AWW), and raising rate (RR). A statistical model was applied to the 4‐trait repeatability animal model. The heritabilities of FI, TNB, AWW and RR were low. The genetic trends in TNB (h² = 0.09) showed approximately 1.0 increase in 6 years from 2003 to 2008. The predicted error variances indicated that up to fourth parity records are necessary for accurate genetic evaluation. The present study results indicated that even reproductive traits with low heritability can be improved.     

A case of mycobacteriosis associated with Mycobacterium pseudoshottsii in aquarium-reared fish in Japan

In 2019, several aquarium-reared fish died at a sea life park in Japan. Necropsy revealed micronodules on the spleen in the dotted gizzard shad (Konosirus punctatus). Seven of 16 fish exhibited microscopic multifocal granulomas associated with acid-fast bacilli in the spleen, kidney, liver, alimentary tract, mesentery, gills, and/or heart. Bacterial cultures yielded isolates from the dotted gizzard shad and a Japanese sardine (Sardinops melanostictus). Microbiological and molecular biological examinations revealed the isolates as Mycobacterium pseudoshottsii. To our knowledge, this is the first isolation of M. pseudoshottsii from aquarium-reared fish.     

Viral RNA extraction using an automatic nucleic acid extractor with magnetic particles and genetic characterization of bovine viral diarrhea virus in Tokachi Province,Japan, in 2016–2017

In this study, the viral genome extraction performance of automatic nucleic acid extractors and manual nucleic acid extraction kits was compared. We showed that compared with manual kits, the automatic extractors showed superior genome extraction performance using bovine viral diarrhea virus (BVDV) genome-positive cattle sera and bovine coronavirus/infectious bovine rhinotracheitis virus-spiked cattle nasal swabs. In addition, the subgenotyping of BVDV strains detected in Tokachi Province in Japan during 2016–2017 was performed. Results showed that most of these BVDV strains belonged to subgenotype 1b, while few strains belonged to subgenotypes 1a and 2a. This study showed the high applicability of automatic nucleic acid extractors in extracting multiple viral genomes and the dominant subgenotype of BVDV in Tokachi.     

Energy expenditure for chewing in sheep fed timothy or sudangrass hay at the same intake level

In order to investigate the energy expended in chewing during eating and rumination in sheep fed timothy or sudangrass hay at the same intake level, the energy expenditure of the head was measured using the arterial-venous difference technique and that of the whole body was measured using an open-circuit, indirect respiration calorimeter. There was no difference in the per-chew energy expenditure between timothy hay and sudangrass hay during eating and rumination, but for both types of hay there was a difference in energy expenditure between eating (0.25 J per chew per kilogram body weight) and rumination (0.18 J per chew per kilogram body weight). There was no effect of time period after feeding on the energy expended in one chew during eating and rumination. On average, for a given type of hay, the energy expended in chewing during eating + rumination accounted for 4.9% of the daily energy expenditure of the whole body.