Mutation in Bovine β-Carotene Oxygenase 2 Affects Milk Color

• Published in: Genetics (Austin) Vol. 182; no. 3; pp. 923 - 926
• Main Authors: Berry, S.D, Davis, S.R, Beattie, E.M, Thomas, N.L, Burrett, A.K, Ward, H.E, Stanfield, A.M, Biswas, M, Andersmit-Udy, A.E, Oxley, P.E, Barnett, J.L, Pearson, J.F, Does, Y. van der, MacGibbon, A.H.K, Spelman, R.J
• Format: Journal Article
• Language: English
• Published: United States Genetics Society of America 01.07.2009
• Subjects: Amino Acid Sequence; Animals; Base Sequence; beta Carotene - blood; beta Carotene - metabolism; beta-carotene; beta-carotene oxygenase; biosynthesis; Cattle; Chromosomes, Mammalian - genetics; Color; Crosses, Genetic; dairy cows; DNA Mutational Analysis; Female; genes; Genotype; Male; milk; Milk - chemistry; Milk - metabolism; Mutation; oxygenases; Oxygenases - genetics; Oxygenases - metabolism; Polymorphism, Single Nucleotide; quantitative trait loci; Quantitative Trait Loci - genetics
• ISSN: 0016-6731; 1943-2631; 1943-2631
• DOI: 10.1534/genetics.109.101741

beta-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 beta-carotene and subsequently identified a premature stop codon in bovine beta-carotene oxygenase 2 (BCO2), which also affects serum beta-carotene content. The BCO2 enzyme is thereby identified as a key regulator of beta-carotene metabolism.