Multiple QTL underlie milk phenotypes at the CSF2RB locus

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dc.contributor.author Lopdell, Thomas en
dc.contributor.author Tiplady, K en
dc.contributor.author Couldrey, C en
dc.contributor.author Johnson, TJJ en
dc.contributor.author Keehan, M en
dc.contributor.author Davis, S en
dc.contributor.author Harris, B en
dc.contributor.author Spelman, R en
dc.contributor.author Snell, Russell en
dc.contributor.author Littlejohn, M en
dc.date.accessioned 2019-02-28T00:09:05Z en
dc.date.issued 2018-09-12 en
dc.identifier.citation bioRxiv (414821v1). 12 Sep 2018. 19 pages en
dc.identifier.uri http://hdl.handle.net/2292/45616 en
dc.description.abstract Abstract Background Bovine milk provides an important source of nutrition in much of the Western world, forming components of many food products. Over many years, artificial selection has substantially improved milk production by cows. However, the genes underlying milk production quantitative trait loci (QTL) remain relatively poorly characterised. Here, we investigate a previously-reported QTL located at the CSF2RB locus, for several milk production phenotypes, to better understand its underlying genetic and molecular causes. Results Using a population of 29,350 taurine dairy cattle, we conducted association analyses for milk yield and composition traits, and identified highly significant QTL for milk yield, milk fat concentration, and milk protein concentration. Strikingly, protein concentration and milk yield appear to show co-located yet genetically distinct QTL. To attempt to understand the molecular mechanisms that might be mediating these effects, gene expression data were used to investigate eQTL for eleven genes in the broader interval. This analysis highlighted genetic impacts on CSF2RB and NCF4 expression that share similar association signatures to those observed for lactation QTL, strongly implicating one or both of these genes as the cause of these effects. Using the same gene expression dataset representing 357 lactating cows, we also identified 38 novel RNA editing sites in the 3 ′ UTR of CSF2RB transcripts. The extent to which two of these sites were edited also appears to be genetically co-regulated with lactation QTL, highlighting a further layer of regulatory complexity implicating the CSF2RB gene. Conclusions This chromosome 5 locus presents a diversity of molecular and lactation QTL, likely representing multiple overlapping effects that, at a minimum, highlight the CSF2RB gene as having a causal role in these processes. en
dc.relation.ispartof bioRxiv en
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. en
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm en
dc.rights.uri https://www.biorxiv.org/about-biorxiv en
dc.rights.uri https://creativecommons.org/licenses/by/4.0/ en
dc.title Multiple QTL underlie milk phenotypes at the CSF2RB locus en
dc.type Report en
dc.identifier.doi 10.1101/414821 en
dc.rights.holder Copyright: The authors en
pubs.author-url https://www.biorxiv.org/content/10.1101/414821v1 en
pubs.publication-status Published en
dc.rights.accessrights http://purl.org/eprint/accessRights/OpenAccess en
pubs.subtype Working Paper en
pubs.elements-id 753679 en
dc.relation.isnodouble 1296026 *
pubs.org-id Science en
pubs.org-id Biological Sciences en
pubs.number 414821v1 en
pubs.record-created-at-source-date 2019-08-05 en


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