The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis

Abstract

Weikard, Rosemarie, Christa Kü hn, Tom Goldammer, Gertraude Freyer, and Manfred Schwerin. The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis. Physiol Genomics 21: 1-13, 2005; doi:10.1152/physiolgenomics.00103.2004.-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-␥ coactivator-1␣ 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, 5Ј-and 3Ј-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.quantitative trait locus; positional and functional candidate gene; single nucleotide polymorphisms; association study; cattle; BTA6 THE DISSECTION of quantitative trait loci (QTL) with impact on complex, economically important traits in livestock and the identification of the underlying genetic variation will help to gain insight into the metabolic pathways and associated genes involved. Concurrently, this will provide the molecular means for a successful marker-assisted selection in livestock populations and may contribute to comparative investigation of basic physiological mechanisms of genetic variation related to similar metabolic pathways and functions of linked and interacting genes in humans and other species. Recently, strategies of comparative positional and functional candidate cloning have been used to identify the molecular background of QTL affecting milk yield and milk composition in dairy cattle and muscle growth in pigs, respectively (e.g., see Refs. 3,18,51,56). A number of independent studies in different populations reported QTL for milk production ...

Search for quantitative trait loci affecting growth and carcass traits in a cross population of beef and dairy cattle1

“…In particular, the SPP1 gene has been found to be associated with birth weight and early growth rate White et al, 2007). The peroxisome proliferator-activated receptor γ, coactivator 1 α gene (PPARGC1A), located at the distal end of the bone-related QTL confidence interval, has been associated with back fatness in pigs (Jacobs et al, 2006) and milk fat synthesis in dairy cattle (Weikard et al, 2005). It also serves as co-activator for vitamin D receptor (Savkur et al, 2005), which is directly involved in bone metabolism.…”

Association of bovine PPARGC1A and OPN genes with milk production and composition in Holstein cattle

“…Structure of doi: 10.17221/8074-CJAS PPARGC1A gene is made from 13 exons composed of 6261 bp. Also, it is expressed at various levels in many tissues (Weikard et al 2005).…”

“…The OPN gene is located in a region of bovine chromosome 6 that comprises QTL affecting milk production traits (Ron et al 2001;Rodriguez-Zas et al 2002;Ashwell et al 2004). Weikard et al (2005) showed that SNP T>C of PPARGC1A gene had a significant effect on milk fat yield in the German Holstein population. Khatib et al (2007) reported significant associations between SNP A>C of PPARGC1A gene and milk yield, milk protein percentage, and SCS in the North American Holstein population.…”

Single Nucleotide Polymorphism in the Promoter Region of BovineInterleukin 8 Gene and its Association with Milk Production Traits andSomatic Cell Score of Holstein Cattle in Iran

“…According to the confidence interval for QTL location on BTA6, several genes that have some physiological relevance to the milk production traits have been considered primary candidates for the QTL. ABCG2 (5,13,20), PPARGC1A (12,27) and OPN (12) are located in BTA6 that they are potential candidate genes for milk production traits and SCC.…”