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- Title
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.
- Authors
Karim, Latifa; Takeda, Haruko; Lin, Li; Druet, Tom; Arias, Juan A C; Baurain, Denis; Cambisano, Nadine; Davis, Stephen R; Farnir, Frédéric; Grisart, Bernard; Harris, Bevin L; Keehan, Mike D; Littlejohn, Mathew D; Spelman, Richard J; Georges, Michel; Coppieters, Wouter
- Abstract
We report mapping of a quantitative trait locus (QTL) with a major effect on bovine stature to a ∼780-kb interval using a Hidden Markov Model-based approach that simultaneously exploits linkage and linkage disequilibrium. We re-sequenced the interval in six sires with known QTL genotype and identified 13 clustered candidate quantitative trait nucleotides (QTNs) out of >9,572 discovered variants. We eliminated five candidate QTNs by studying the phenotypic effect of a recombinant haplotype identified in a breed diversity panel. We show that the QTL influences fetal expression of seven of the nine genes mapping to the ∼780-kb interval. We further show that two of the eight candidate QTNs, mapping to the PLAG1-CHCHD7 intergenic region, influence bidirectional promoter strength and affect binding of nuclear factors. By performing expression QTL analyses, we identified a splice site variant in CHCHD7 and exploited this naturally occurring null allele to exclude CHCHD7 as single causative gene.
- Publication
Nature genetics, 2011, Vol 43, Issue 5, p405
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.814