title: The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis.
abstract: Several studies in a variety of breeds have reported at least two QTL for milk production traits, including milk fat synthesis on bovine chromosome 6 (BTA6), comprising a region that comparatively has been mapped to equivalent syntenic chromosome intervals in human, pig, and mouse harboring loci associated with type II diabetes and obesity-related traits. We identified the bovine peroxysome proliferator-activated receptor-gamma coactivator-1alpha gene (PPARGC1A) as a plausible positional and functional candidate gene for a previously described QTL for milk fat yield on BTA6 because of its chromosomal position and its key role in energy, fat, and glucose metabolism. To analyze the role of the bovine PPARGC1A gene in regulation of milk fat synthesis in dairy cattle, we determined its cDNA sequence, genomic organization, chromosomal localization, and expression pattern. The bovine PPARGC1A gene is organized in 13 exons comprising 6,261 bp and is expressed at different levels in a large number of tissues. Bovine PPARGC1A cDNA and protein sequences showed substantial similarity (92-95%) to its respective orthologs from human, rat, and mouse. Screening for polymorphisms in the coding sequence, exon/intron boundaries, 5'- and 3'-untranslated regions, and promoter region of the PPARGC1A gene in sires with a different genotype at the QTL for milk fat yield as well as in a multibreed panel revealed a total of 11 polymorphic loci. A significant association between an SNP in intron 9 of the PPARGC1A gene and milk fat yield was observed in a major dairy cattle population, indicating that the PPARGC1A gene could be involved in genetic variation underlying the QTL for milk fat synthesis on BTA6.
authors.affiliation: Forschungsinstitut für die Biologie landwirtschaftlicher Nutztiere, Dummerstorf, Germany. weikard@fbn-dummerstorf.de
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Weikard
authors.forename: Christa
authors.initials: C
authors.lastname: Kühn
authors.forename: Tom
authors.initials: T
authors.lastname: Goldammer
authors.forename: Gertraude
authors.initials: G
authors.lastname: Freyer
authors.forename: Manfred
authors.initials: M
authors.lastname: Schwerin
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D005223:Fats / Q000378:metabolism*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D049673:History, 20th Century; D006801:Humans; D007438:Introns; D007774:Lactation; D051379:Mice; D008892:Milk / Q000378:metabolism*; D008957:Models, Genetic; D015233:Models, Statistical; D008969:Molecular Sequence Data; D020411:Oligonucleotide Array Sequence Analysis; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D018076:DNA, Complementary; D005223:Fats; D005819:Genetic Markers; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; C485290:Ppargc1a protein, mouse; D015534:Trans-Activators; D014157:Transcription Factors