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Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature
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Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature
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Journal Article
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature
2011
Overview
Michel Georges and colleagues report fine mapping and functional characterization of a quantitative trait locus with a large effect on bovine stature. They show that the likely causal variants at this locus modulate expression of a chromosomal domain encompassing
PLAG1
and several other genes.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Alleles
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Cattle
/ Cattle - anatomy & histology
/ Cattle/anatomy & histology/genetics
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics & genetic processes
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genome-Wide Association Study
/ Genomes
/ Genomics
/ Génétique & processus génétiques
/ Male
/ Polymorphism, Single Nucleotide
/ Regulon
