Authors
Latifa Karim, Haruko Takeda, LI Lin, Tom Druet, Juan AC Arias, Denis Baurain, Nadine Cambisano, Stephen R Davis, Frédéric Farnir, Bernard Grisart, Bevin L Harris, Mike D Keehan, Mathew D Littlejohn, Richard J Spelman, Michel Georges, Wouter Coppieters
Publication date
2011/5
Journal
Nature genetics
Volume
43
Issue
5
Pages
405-413
Publisher
Nature Publishing Group US
Description
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 …
Total citations
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