scholarly journals A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumulation of carotenoids in adipose tissue in sheep (Ovis aries)

BMC Genetics ◽  
2010 ◽  
Vol 11 (1) ◽  
Author(s):  
Dag I Våge ◽  
Inger A Boman
2020 ◽  
Author(s):  
Matthew Kent ◽  
Michel Moser ◽  
Inger Anne Boman ◽  
Kristine Lindtveit ◽  
Mariann Árnyasi ◽  
...  

AbstractBackgroundThe accumulation of carotenoids in adipose tissue leading to yellow fat is, in sheep, a heritable recessive trait that can be attributed to a nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene. However, not all sheep breeds suffering from yellow fat have this nonsense mutation, meaning that other functional mechanisms must exist. We investigated one such breed, the Norwegian spælsau.ResultsIn spælsau we detected an aberration in BCO2 mRNA. Nanopore sequencing of genomic DNA revealed the insertion of a 7.9 kb endogenous Jaagsiekte Sheep Retrovirus (enJSRV) sequence in the first intron of the BCO2 gene. Close examination of its cDNA revealed that the BCO2 genes first exon was spliced together with enJSRV-sequence immediately downstream of a potential - AG splice acceptor site at enJSRV position 415. The hybrid protein product consists of 29 amino acids coded by the BCO2 exon 1, followed by 29 amino acids arbitrary coded for by the enJSRV-sequence, before a translation stop codon is reached.ConclusionsConsidering that the functional BCO2 protein consists of 575 amino acids, it is unlikely that the 58 amino acid BCO2/enJSRV hybrid protein can display any enzymatic function. The existence of this novel BCO2 allele represents an alternative functional mechanism accounting for BCO2 inactivation and is a perfect example of the potential benefits for searching for structural variants using long-read sequencing data.


BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Matthew Kent ◽  
Michel Moser ◽  
Inger Anne Boman ◽  
Kristine Lindtveit ◽  
Mariann Árnyasi ◽  
...  

Abstract Background The accumulation of carotenoids in adipose tissue leading to yellow fat is, in sheep, a heritable recessive trait that can be attributed to a nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene. However, not all sheep breeds suffering from yellow fat have this nonsense mutation, meaning that other functional mechanisms must exist. We investigated one such breed, the Norwegian spælsau. Results In spælsau we detected an aberration in BCO2 mRNA. Nanopore sequencing of genomic DNA revealed the insertion of a 7.9 kb endogenous Jaagsiekte Sheep Retrovirus (enJSRV) sequence in the first intron of the BCO2 gene. Close examination of its cDNA revealed that the BCO2 genes first exon was spliced together with enJSRV-sequence immediately downstream of a potential -AG splice acceptor site at enJSRV position 415. The hybrid protein product consists of 29 amino acids coded by the BCO2 exon 1, one amino acid coded by the junction sequence, followed by 28 amino acids arbitrary coded for by the enJSRV-sequence, before a translation stop codon is reached. Conclusions Considering that the functional BCO2 protein consists of 575 amino acids, it is unlikely that the 58 amino acid BCO2/enJSRV hybrid protein can display any enzymatic function. The existence of this novel BCO2 allele represents an alternative functional mechanism accounting for BCO2 inactivation and is a perfect example of the potential benefits for searching for structural variants using long-read sequencing data.


Nutrients ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 3607
Author(s):  
Bojan Stojnić ◽  
Alba Serrano ◽  
Lana Sušak ◽  
Andreu Palou ◽  
M. Luisa Bonet ◽  
...  

Anti-obesity activity has been reported for beta-carotene (BC) supplementation at high doses and metformin (MET). We studied whether BC treatment at a closer to dietary dose and MET treatment at a lower than therapeutic dose are effective in ameliorating unwanted effects of an obesogenic diet and whether their combination is advantageous. Obesity-prone mice were challenged with a high-fat diet (HFD, 45% energy as fat) for 4 weeks while receiving a placebo or being treated orally with BC (3 mg/kg/day), MET (100 mg/kg/day), or their combination (BC+MET); a fifth group received a placebo and was kept on a normal-fat diet (10% energy as fat). HFD-induced increases in body weight gain and inguinal white adipose tissue (WAT) adipocyte size were attenuated maximally or selectively in the BC+MET group, in which a redistribution towards smaller adipocytes was noted. Cumulative energy intake was unaffected, yet results suggested increased systemic energy expenditure and brown adipose tissue activation in the treated groups. Unwanted effects of HFD on glucose control and insulin sensitivity were attenuated in the treated groups, especially BC and BC+MET, in which hepatic lipid content was also decreased. Transcriptional analyses suggested effects on skeletal muscle and WAT metabolism could contribute to better responses to the HFD, especially in the MET and BC+MET groups. The results support the benefits of the BC+MET cotreatment.


2003 ◽  
Vol 73 (1) ◽  
pp. 24-31 ◽  
Author(s):  
J. Gómez-Aracena ◽  
R. Bogers ◽  
P. Van’t Veer ◽  
E. Gómez-Gracia ◽  
A. García-Rodríguez ◽  
...  

Objective: To study relationships between habitual dietary intake, adipose tissue concentrations of alpha-carotene, beta-carotene and lycopene, and plasma concentrations of alpha- and beta-carotene. Design: Cross-sectional study including assessment of food habits by a food frequency questionnaire and 48-hour recall and determination of carotenoid concentrations in adipose tissue and plasma. Subjects: 51 women (mean age of 62 years) from the control group of the European Community Multicentre Study on Antioxidants, Myocardial Infarction, and Breast Cancer (EURAMIC), Málaga, Spain. Results: In adipose tissue, beta-carotene was correlated with consumption of green pepper (r = 0.36; p < 0.05) and lycopene with total fruit/vegetable intake (r = 0.28; p < 0.05), green pepper (r = 0.31; p < 0.05), and carrot (r = 0.25; p < 0.10). In plasma, beta-carotene was correlated with total fruit/vegetable intake (r = 0.29; p < 0.10), lettuce (r = 0.34; p < 0.05), tomato (r = 0.26; p < 0.10), and lycopene with total fruit/vegetable intake (r = 0.27; p < 0.10). Age-, BMI- and waist circumference-adjusted regression coefficients for the regression of logn-transformed adipose and plasma concentrations on consumption of specific fruits and vegetables (per 100g/day) were calculated. In adipose tissue, coefficients were: 1.50 (p < 0.05) for alpha-carotene/carrot; 1.90 (p < 0.10) and 0.51 (p < 0.10) for beta-carotene/green pepper and lettuce; 2.02 (p < 0.05), 1.25 (p < 0.05) and 0.18 (p < 0.05) for lycopene/green pepper, carrot and total fruit/vegetable intake. In plasma, coefficients were 1.14 (p < 0.05) and 0.21 (p < 0.05) for beta-carotene/lettuce and total fruit/vegetable intake. Conclusions: Consumption of fruit and vegetables could be linked directly to carotenoid concentrations in adipose tissue and plasma. Although associations with individual food items are related to their carotenoid contents, the absorption and distribution of carotenoids needs more attention to improve their usefulness as biomarkers of exposure.


Author(s):  
Incoronata Murano ◽  
Manrico Morroni ◽  
Maria Cristina Zingaretti ◽  
Paula Oliver ◽  
Juana Sánchez ◽  
...  

1995 ◽  
Vol 62 (3) ◽  
pp. 598-603 ◽  
Author(s):  
E J Johnson ◽  
P M Suter ◽  
N Sahyoun ◽  
J D Ribaya-Mercado ◽  
R M Russell

2020 ◽  
Vol 13 (2) ◽  
pp. 152-161
Author(s):  
Dhyaa Abood ◽  
Asrar Talab

Twelve samples of mammary glands (6 immature and 6 lactating ewes) were used for this study. Specimens of glands were immediately dissected and fixed in 10% formalin sol. The specimens were processed according to paraffin technique, sectioned at 5-6µm and stained by hematoxylin and eosin, Masson's Trichrom stains. In both immature and lactating ewes the mammary glands were covered by skin. In immature ewes the mammary quarter was composed of few mammary lobes that separated by very thick inter lobar adipose tissue. The lactating quarter was composed of huge mammary lobes and lobules without adipose tissue. In immature the lobe was consisted of few small lobules that composed of few of mammary alveoli while the lactating lobes had large sizes lobules and each had large alveoli which lined by tall cuboidal cells and supported by fibrous tissue and myo epithelial cells. In both immature and lactating ewes, the gland and teat cisternae were showed many of mucosal folds which lined by pseudo stratified columnar epithelium and supported by fibrous connective tissue. The teat cisterna of both immature and lactating was composed three layers; mucosal cisterna, fibro muscular layer and skin. The teat canal was lined by pseudo stratified squamous epithelium and the sub epithelial connective tissue showed well developed venous sinus and fibro muscular. Statistical analysis was revealed significant differences between the values of all parameters of immature and lactating ewes. Apparent surface areas of the lobe in immature and lactating were 122143.063±23.21 µm2 & 992541.188±33.81 µm2 respectively. Surface areas of lobule in immature and lactating were 1042.938±21.02 µm2 & 91565.977±25.60 µm2 respectively. Surface areas of alveoli in immature and lactating were 994.238±11.39 µm2 & 4584.270±19.26 µm2 respectively. Epithelial heights of alveoli in immature and lactating were 10.290±1.01 µm & 23.012±2.81 µm respectively. Thickness of inter lobar tissue in immature and lactating ewes 677.393±23.67 µm and 361.401±10.86 µm respectively. Thickness of inter lobular connective tissue in immature and lactating were 112.969±±11.48 µm and 90.281±9.81 µm respectively.


2000 ◽  
Vol 70 (5) ◽  
pp. 199-205 ◽  
Author(s):  
Mora ◽  
Romano ◽  
Gonzalez ◽  
Ruiz ◽  
Shimada

Two experiments (one with twelve heifers and the other with 14 goats) were designed to evaluate the effect of increasing dietary beta-carotene concentration on the activity of the cleaving enzyme 15,15’beta-carotene dioxygenase and the concentration of beta-carotene and retinol in selected tissues. The experiments lasted 120 days. During the first 90 days animals were offered a beta-carotene unsupplemented diet. In the following 30 days, they were distributed to one of three treatments: 0, 5.5 or 352 mg of beta-carotene/kg of dry matter intake. All animals were slaughtered at the end. In heifers the concentration of beta-carotene in plasma, reflected the level of beta-carotene fed. Goats had detectable levels of beta-carotene only on day 10 of supplementation. In the liver, beta-carotene concentrations were highest with the 352 dose in both species. Heifers had the highest concentration of beta-carotene in the adipose tissue. In bovines, no interaction between beta-carotene treatment and intestinal sampling site was found (P > 0.2) for the activity of 15,15 dioxygenase. Across beta-carotene levels, results of the enzyme assay were: 0.19, 0.32 and 0.45 nmol retinal/(mg S-9 protein/h) (P < 0.01) for 0, 5.5 and 352 mg beta-carotene·kg dry matter intake –1·d–1, respectively; across intestinal sampling sites results of the enzyme assay were 0.45, 0.43 and 0.08 nmol retinal/(mg S-9 protein/h) (P < 0.01) for duodenum, jejunum and ileum, respectively. Caprine data showed an interaction between beta-carotene treatment and intestinal sampling site (P < 0.05) for the activity of 15,15 dioxygenase. The results for treatment 0 were: 1.4, 1.4 and 0; for treatment 5.5: 1.41, 1.42 and 0.13; and for treatment 352: 1.46, 1.99 and 0.48 nmol retinal/mg S-9 protein/h for duodenum, jejunum and ileum, respectively. The lower levels of duodenal and jejunal 15,15’dioxygenase activity in cattle compared with goats, may explain the greater pigmentation of adipose tissue in the former ruminant specie.


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