期刊
NATURE GENETICS
卷 43, 期 5, 页码 405-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.814
关键词
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资金
- Livestock Improvement Corporation (LIC
- Hamilton, New Zealand)
- Unit of Animal Genomics
- University of Liege
- Communaute Francaise de Belgique (ARC Biomod)
- Belgian Science Policy Organisation (SSTC Genefunc PAI)
We report mapping of a quantitative trait locus (QTL) with a major effect on bovine stature to a similar to 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 similar to 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.
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