title: Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat.
abstract: Selective breeding has strongly reduced the genetic diversity in livestock species, and contemporary breeding practices exclude potentially beneficial rare genetic variation from the future gene pool. Here we test whether important traits arising by new mutations can be identified and rescued in highly selected populations. We screened milks from 2.5 million cows to identify an exceptional individual which produced milk with reduced saturated fat content, and improved unsaturated and omega-3 fatty acid concentrations. The milk traits were transmitted dominantly to her offspring, and genetic mapping and genome sequencing revealed a new mutation in a previously unknown splice enhancer of the DGAT1 gene. Homozygous carriers show features of human diarrheal disorders, and may be useful for the development of therapeutic strategies. Our study demonstrates that high-throughput phenotypic screening can uncover rich genetic diversity even in inbred populations, and introduces a novel strategy to develop novel milks with improved nutritional properties.
authors.affiliation: 1] ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand [2] School of Biological Sciences, University of Auckland, Auckland, New Zealand.
authors.forename: Klaus
authors.initials: K
authors.lastname: Lehnert
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Hamish
authors.initials: H
authors.lastname: Ward
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Sarah D
authors.initials: SD
authors.lastname: Berry
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Alex
authors.initials: A
authors.lastname: Ankersmit-Udy
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Alayna
authors.initials: A
authors.lastname: Burrett
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Beattie
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Natalie L
authors.initials: NL
authors.lastname: Thomas
authors.affiliation: LIC, Hamilton, New Zealand.
authors.forename: Bevin
authors.initials: B
authors.lastname: Harris
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Christine A
authors.initials: CA
authors.lastname: Ford
authors.affiliation: Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
authors.forename: Sharon R
authors.initials: SR
authors.lastname: Browning
authors.affiliation: Centre for Biodiscovery, Victoria University of Wellington, Wellington, New Zealand.
authors.forename: Pisana
authors.initials: P
authors.lastname: Rawson
authors.affiliation: DairyNZ Ltd, Hamilton, New Zealand.
authors.forename: Gwyneth A
authors.initials: GA
authors.lastname: Verkerk
authors.affiliation: Fonterra Research Centre, Palmerston North, New Zealand.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: van der Does
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Linda F
authors.initials: LF
authors.lastname: Adams
authors.affiliation: ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand.
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Davis
authors.affiliation: Centre for Biodiscovery, Victoria University of Wellington, Wellington, New Zealand.
authors.forename: T William
authors.initials: TW
authors.lastname: Jordan
authors.affiliation: Fonterra Research Centre, Palmerston North, New Zealand.
authors.forename: Alastair K H
authors.initials: AK
authors.lastname: MacGibbon
authors.affiliation: LIC, Hamilton, New Zealand.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Spelman
authors.affiliation: 1] ViaLactia Biosciences (NZ) Ltd., Auckland, New Zealand [2] School of Biological Sciences, University of Auckland, Auckland, New Zealand.
authors.forename: Russell G
authors.initials: RG
authors.lastname: Snell
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle / Q000235:genetics; D051048:Diacylglycerol O-Acyltransferase / Q000235:genetics*; D005227:Fatty Acids / Q000096:biosynthesis; D005260:Female; D056726:Genetic Association Studies; D050356:Lipid Metabolism / Q000235:genetics; D008297:Male; D008892:Milk / Q000378:metabolism*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D005227:Fatty Acids; D051048:Diacylglycerol O-Acyltransferase