Originally published as Genetics Published Articles Ahead of Print on April 27, 2009.

Genetics, Vol. 182, 923-926, July 2009, Copyright © 2009
doi:10.1534/genetics.109.101741

Mutation in Bovine β-Carotene Oxygenase 2 Affects Milk Color

* ViaLactia Biosciences, P.O. Box 109-185, Newmarket, Auckland 1149, New Zealand, {dagger} Fonterra Research Center, Private Bag 11029, Palmerston North 4442, New Zealand and {ddagger} Livestock Improvement Corporation, Private Bag 3016, Hamilton 3240, New Zealand

1 Corresponding author: ViaLactia Biosciences, P.O. Box 109-185, Newmarket, Auckland 1149, New Zealand.
E-mail: russell.snell{at}vialactia.com

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