title: Restriction fragment length and single strand conformational polymorphisms in chicken mitochondrial phosphoenol-pyruate carboxykinase gene and its association with egg production.
abstract: This study analysed mitochondrial phosphoenol-pyruate carboxykinase (PEPCK-M) gene as a candidate QTL for egg production traits in chickens. Single Strand Conformational Polymorphism (SSCP) of a 300 bp DNA fragment, from exon 9 of samples from an egg laying North American commercial White Leghorn stock, revealed a total of 6 different single strand conformers, indicative of 3 alleles. Subsequent DNA sequencing found a total of 4 base changes in this fragment between these alleles (called A1, A2 and A3) when compared to the reference sequence published online. The A1 allele had one transition mutation of T to C at position 1700. The A2 allele had accumulated three transition mutations: T to C at position 1578, A to G at position 1647 and T to C at position 1650. Transition mutation of T to C at position 1578 of the A2 allele results in the loss of an AccI site, hence, producing a de novo RFLP. Analysis of 358 female individuals from this strain showed that the population is highly polymorphic at this site. The effect of PEPCK-M genotypes at this site, namely AccI -/-, AccI +/- and AccI +/+, was tested on three traits, age at first egg, egg production rate and egg number. Least square analysis showed that exon 9 RFLP significantly affects age at first egg (p < 0.05). Egg production rate and egg number traits were not affected by different genotypes at this position. The data also indicates an over-dominance effect for the associated trait.
authors.affiliation: University of Sistan and Baluchistan, Zahedan, Iran.
authors.forename: Adam
authors.initials: A
authors.lastname: Torkamanzehi
authors.forename: Urs
authors.initials: U
authors.lastname: Kuhnlein
mesh_terms: D000483:Alleles; D000818:Animals; D002645:Chickens; D003001:Cloning, Molecular; D004531:Eggs; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D008928:Mitochondria / Q000378:metabolism*; D009154:Mutation; D019764:Phosphoenolpyruvate Carboxykinase (ATP) / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D040641:Quantitative Trait Loci; D017422:Sequence Analysis, DNA
chemical_list: D019764:Phosphoenolpyruvate Carboxykinase (ATP)