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)

<p>Abstract</p> <p>Background</p> <p>Sheep carcasses with yellow fat are sporadically observed at Norwegian slaughter houses. This phenomenon is known to be inherited as a recessive trait, and is caused by accumulation of carotenoids in adipose tissue. Two enzymes are known to be important in carotenoid degradation in mammals, and are therefore potential candidate genes for this trait. These are <it>beta-carotene 15,15'-monooxygenase 1 (BCMO1) </it>and the <it>beta-carotene oxygenase 2 (BCO2)</it>.</p> <p>Results</p> <p>In the present study the coding region of the <it>BCMO1 </it>and the <it>BCO2 </it>gene were sequenced in yellow fat individuals and compared to the corresponding sequences from control animals with white fat. In the yellow fat individuals a nonsense mutation was found in <it>BCO2 </it>nucleotide position 196 (<it>c.196C>T</it>), introducing a stop codon in amino acid position 66. The full length protein consists of 575 amino acids. In spite of a very low frequency of this mutation in the Norwegian AI-ram population, 16 out of 18 yellow fat lambs were found to be homozygous for this mutation.</p> <p>Conclusion</p> <p>In the present study a nonsense mutation (<it>c.196C>T</it>) in the <it>beta-carotene oxygenase 2 (BCO2) </it>gene is found to strongly associate with the yellow fat phenotype in sheep. The existence of individuals lacking this mutation, but still demonstrating yellow fat, suggests that additional mutations may cause a similar phenotype in this population. The results demonstrate a quantitatively important role for BCO2 in carotenoid degradation, which might indicate a broad enzyme specificity for carotenoids. Animals homozygous for the mutation are not reported to suffer from any negative health or development traits, pointing towards a minor role of BCO2 in vitamin A formation. Genotyping AI rams for <it>c.196C>T </it>can now be actively used in selection against the yellow fat trait.</p

Variation in fatty acid contents of milk and milk fat within and across breeds

The aim of this research was to study the potential for selection of cows with a higher nutritional quality of milk fat by studying the differences in fatty acid profiles within and across the following breeds: Dual Purpose Belgian Blue, Holstein-Friesian, Jersey, Montbeliarde, and non-Holstein Meuse-Rhine-Yssel type Red and White. Six hundred milk samples from 275 animals were taken from 7 herds. Several types of fatty acids in milk and milk fat were quantified using midinfrared spectrometry and previously obtained calibration equations. Statistical analyses were made using a mixed linear model with a random animal effect. The variance components were estimated by using REML. Results showed breed differences for the fatty acid profile. The repeatability estimate obtained in the present study may suggest the existence of moderate additive genetic variance for the fatty acid profile within each breed. Results also indicated variation for each analyzed milk component in the whole cow population studied. Genetic improvement of the nutritional quality of milk fat based on fatty acid profiles might be possible, and further research and development are warranted

Estimation of heritability and genetic correlations for the major fatty acids in bovine milk

The current cattle selection program for dairy cattle in the Walloon region of Belgium does not consider the relative content of the different fatty acids (FA) in milk. However, interest by the local dairy industry in differentiated milk products is increasing. Therefore, farmers may be interested in selecting their animals based on the fat composition. The aim of this study was to evaluate the feasibility of genetic selection to improve the nutritional quality of bovine milk fat. The heritabilities and correlations among milk yield, fat, protein, and major FA contents in milk were estimated. Heritabilities for FA in milk and fat ranged from 5 to 38%. The genetic correlations estimated among FA reflected the common origin of several groups of FA. Given these results, an index including FA contents with the similar metabolic process of production in the mammary gland could be used, for example, to increase the monounsaturated and conjugated fatty acids in milk. Moreover, the genetic correlations between the percentage of fat and the content of C14:0, C12:0, C16:0, and C18:0 in fat were −0.06, 0.55, 0.60, and 0.84, respectively. This result demonstrates that an increase in fat content is not directly correlated with undesirable changes in FA profile in milk for human health. Based on the obtained genetic parameters, a future selection program to improve the FA composition of milk fat could be initiated

Genetic variability of milk fatty acids.

The milk fatty acid (FA) profile is far from the optimal fat composition in regards to human health. The natural sources of variation, such as feeding or genetics, could be used to increase the concentrations of unsaturated fatty acids. The impact of feeding is well described. However, genetic effects on the milk FA composition begin to be extensively studied. This paper summarizes the available information about the genetic variability of FAs. The greatest breed differences in FA composition are observed between Holstein and Jersey milk. Milk fat of the latter breed contains higher concentrations of saturated FAs, especially short-chain FAs. The variation of the delta-9 desaturase activity estimated from specific FA ratios could explain partly these breed differences. The choice of a specific breed seems to be a possibility to improve the nutritional quality of milk fat. Generally, the proportions of FAs in milk are more heritable than the proportions of these same FAs in fat. Heritability estimates range from 0.00 to 0.54. The presence of some single nucleotide polymorphisms could explain partly the observed individual genetic variability. The polymorphisms detected on SCD1 and DGAT1 genes influence the milk FA composition. The SCD1 V allele increases the unsaturation of C16 and C18. The DGAT1 A allele is related to the unsaturation of C18. So, a combination of the molecular and quantitative approaches should be used to develop tools helping farmers in the selection of their animals to improve the nutritional quality of the produced milk fat