Mutation in Bovine β-Carotene Oxygenase 2 Affects Milk Color

Abstract

b-Carotene biochemistry is a fundamental process in mammalian biology. Aberrations either through malnutrition or potentially through genetic variation may lead to vitamin A deficiency, which is a substantial public health burden. In addition, understanding the genetic regulation of this process may enable bovine improvement. While many bovine QTL have been reported, few of the causative genes and mutations have been identified. We discovered a QTL for milk b-carotene and subsequently identified a premature stop codon in bovine b-carotene oxygenase 2 (BCO2), which also affects serum b-carotene content. The BCO2 enzyme is thereby identified as a key regulator of b-carotene metabolism.

Genetic dissection in a mouse model reveals interactions between carotenoids and lipid metabolism

“…These enzymes play an important role in carotenoid homeostasis of blood and tissues, as seen by genetic variability in the corresponding genes in humans and animals (35)(36)(37)(38)(39). However, little is known as to whether an additional mechanism exists in cells to chemically modify these lipids.…”

Association between CSN3 and BCO2 gene polymorphisms and milk performance traits in the Czech Fleckvieh cattle breed

“…According to Tian et al (2010) and Berry et al (2009), the BCO2 gene has an effect on milk and meat fat color in cattle, but there was no mention about allele and genotype frequencies and about a relationship between gene polymorphism and performance traits of milk. According to our results, the BCO2 gene has an influence on milk yield, protein content and SCC.…”

“…It is located on BTA15 (Tian et al, 2010). The BCO2 gene is described in two allelic variants -allele A and allele G. Allele A is associated with higher concentration of β-carotene in bovine milk (Berry et al, 2009;Tian et al, 2010). No data about an association between the BCO2 gene polymorphism and milk performance traits have been published.…”

Bioavailability of Dietary Carotenoids: Intestinal Absorption and Metabolism

“…Naturally, these cleavage enzyme activities affect the carotenoid levels in tissues. Indeed, cows that had defects in the asymmetric cleavage enzyme showed high levels of β-carotene in plasma and milk (Berry et al 2009). Similarly, a missense mutation in the gene of the central cleavage enzyme was found in a human subject with hypercarotenemia (Lindqvist et al 2007).…”