|Van Poucke, Mario|
|Van Zeveren, Alex|
|Peelman, Luc J.|
Submitted to: Cytogenetics and Genome Research
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 2/25/2005
Publication Date: 12/28/2005
Citation: Jacobs, K., Rohrer, G.A., Van Poucke, M., Piumi, F., Yerle, M., Barthenschlager, H., Mattheeuws, M., Van Zeveren, A., Peelman, L. 2006. Porcine PPARGC1A (peroxisome proliferative activated receptor gamma coactivator 1a): coding sequence, genomic organization, polymorphisms and mapping. Cytogenetics and Genome Research. 112:106-113. Interpretive Summary: Peroxisome proliferative activated receptor gamma coactivator 1 (PPARGC1) has a key role in weight regulation and body composition through a mechanism known as adaptive thermogenesis (regulation of body temperature). This gene is also important in preventing hyperthermia. The location of PPARGC1 in the pig's genome was determined to be on chromosome 8 in the same region as a gene affecting leaf fat was predicted. The sequence of the pig's PPARGC1 gene and the locations in the body where the gene is expressed were determined to be very similar to that of mouse, rat and human. An evaluation of the sequence of PPARGC1 in different pigs determined three changes in the DNA sequence that also affected the protein. Animals in the US Meat Animal Research Center's Meishan-White Composite pig population were studied and a significant association between form of the PPARGC1 gene possessed with leaf fat weight was detected. This study indicates that different forms of the PPARGC1 gene are associated with amount of leaf fat in the pigs studied and these different PPARGC1 forms may be responsible for deposition of leaf fat.
Technical Abstract: Peroxisome proliferative activated receptor gamma coactivator 1 (PPARGC1) is described as a coactivator of nuclear receptors with an important function in adaptive thermogenesis. Primers based on human PPARGC1 were used to isolate 2 porcine BAC clones. Porcine coding sequences of PPARGC are sequenced together with the splice site regions and the 5' and 3' regions. The nucleotide sequence and deduced amino acid sequence show a very high identity with mouse, rat and human sequences. Nine SNP's were found in the gene using direct sequencing. The 4 exonic SNPs comprise 1 silent and 3 missense mutations. Allele frequencies were determined in unrelated animals of 5 different pig breeds. In the MARC Meishan-White Composite resource population, the polymorphism in exon 9 was significantly associated with leaf fat weight. BAC clone 395C8 has been mapped by FISH to Sscr8p21. A (CA)n-microsatellite (SGU0001), isolated from this BAC clone, has been localised near marker SWR1101 on chromosome 8 by RH mapping and at the same position as marker KS195 (32.5 cM) by linkage mapping on the MARC reference family. The AseI (nt857, Asn/Asn489) polymorphism in exon 8 was used to perform linkage analysis on the Hohenheim reference family and located the gene in the same genomic region. Transcription of the gene was detected in adipose, muscle, kidney, liver, brain, heart and adrenal gland tissues, which is in agreement with the function of PPARGC1 in adaptive thermogenesis.