Reference : Variants modulating the expression of a chromosome domain encompassing PLAG1 influence b...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/94469
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.
English
Karim, Latifa* mailto [Université de Liège - ULg > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire]
Takeda, Haruko* mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale]
Lin, Li* [> > > >]
Druet, Tom* mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale]
Arias, Juan A C [> > > >]
Baurain, Denis mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale]
Cambisano, Nadine mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale]
Davis, Stephen R [> > > >]
Farnir, Frédéric mailto [Université de Liège - ULg > Département de productions animales > Biostatistiques et bioinformatique appliquées aux sc. vétér. >]
Grisart, Bernard [> > > >]
Harris, Bevin L [> > > >]
Keehan, Mike D [> > > >]
Littlejohn, Mathew D [> > > >]
Spelman, Richard J [> > > >]
Georges, Michel mailto [Université de Liège - ULg > Département de productions animales > Département de productions animales]
Coppieters, Wouter mailto [Université de Liège - ULg > Département de productions animales > GIGA-R : Génomique animale >]
* These authors have contributed equally to this work.
2011
Nature Genetics
Nature Publishing Group
43
5
405-13
Yes (verified by ORBi)
International
1061-4036
1546-1718
New York
NY
[en] Alleles ; Animals ; Base Sequence ; Cattle/anatomy & histology/genetics ; Chromosome Mapping ; Crosses, Genetic ; DNA Primers/genetics ; Female ; Genetic Variation ; Genome-Wide Association Study ; Haplotypes ; Linkage Disequilibrium ; Open Reading Frames ; Male ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Quantitative Trait Loci ; RNA Splice Sites ; Regulon ; Sequence Homology, Nucleic Acid
[en] We report mapping of a quantitative trait locus (QTL) with a major effect on bovine stature to a approximately 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 approximately 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.
Researchers ; Professionals
http://hdl.handle.net/2268/94469
also: http://hdl.handle.net/2268/101969
10.1038/ng.814

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