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Genetic variability of the cytosolic phosphoenolpyruvate carboxykinase gene in white leghorn chickens.

Phosphoenolpyruvate carboxykinase (PEPCK) is a key regulatory enzyme of gluconeogenesis. Genetic variations in this gene may therefore affect a wide variety of traits, including tumor growth that is heavily dependent on glucose metabolism. We have previously shown the gene coding for the mitochondrial form of PEPCK (PEPCK-M) segregates for markers that are collected with resistance to Marek's disease. In this communication we analyze the genetic variability of PEPCK-C, the gene which codes for the cytosolic form of PEPCK. A 3,792-bp segment of 5'-region of the PEPCK-C gene (position -1723 to 2069) was sequenced in four individuals from eight different strains of White Leghorn chickens (a total of 64 genomes). A total of 19 single nucleotide polymorphisms (SNP) were identified. Neither deletions nor insertions were present. The most frequent SNP were transitions (79%), and in most cases the ancestral allele coincided with CpG dinucleotides (10-fold excess after correcting for dinucleotide frequencies). A gene tree was constructed assuming maximal parsimony. It led to the delineation of 6 haplotypes (combination of alleles). Two of the SNP coincided with RFLP detectable by the restriction enzymes AciI and BstEII, respectively. Based on this analysis we can now identify individuals with the evolutionary most distant PEPCK-C haplotypes, establish strains of these haplotypes, and analyze trait associations and epistasis with other genes.