Previous results of fine mapping for quantitative trait loci affecting intramuscular fat content identified a 3.0-Mb chromosome interval on porcine chromosome 7, which contains at least 9 genes, based on the pig genome assembly. Therefore, we proposed these nine genes (LOC100154481, LOC100155711, LOC100155276, SPATA7, PTPN21, ZCH14, EML5, TTC8, and FOXN3) as positional candidate genes. The coding exons of the nine genes were characterized, and 45 polymorphisms were detected in F 2 Duroc × Meishan population. Within the nine genes, 10 non-synonymous substitutions and 1 insertion were genotyped among three European breeds (Landrace, Large White, and Duroc) and 1 Chinese breed (Meishan). Genotyping data was used to perform the haplotype analysis. Polymorphisms were found in all the studied genes, except ZCH14. We surveyed the frequency of 33 haplotypes that formed non-synonymous substitutions in four breeds. One of them was distributed widely in the Landrace, Large White, and Meishan breeds, but not in Duroc. Each breed had different major haplotypes.Keywords: pig; chromosome 7; intramuscular fat; positional candidate genes; polymorphism Abbreviations: EML5 = echinoderm microtubule associated protein like 5; FOXN3 = forkhead box N3; PTPN21 = protein tyrosine phosphatase, non-receptor type 21; SPATA7 = spermatogenesis associated 7; TTC8 = tetratricopeptide repeat domain 8; ZCH14 = zinc finger CCCH-type containing 14; IMF = intramuscular fat; PCR-RFLP = polymerase chain reaction-restriction fragment length polymorphism; QTL = quantitative trait locus
522Original Paper Czech J. Anim. Sci., 56, 2011 (12): 521-528 QTL, one located on each of porcine chromosomes 7, 9, and 13, by using a porcine F 2 resource population produced from a cross between a Meishan sow and a Duroc boar (Sato et al., 2003). We reported that one QTL on porcine chromosome 7 was fine-mapped to the interval between DNA markers SJ169 to MM70, which spans approximately 3.0 Mb and contains at least 9 genes, based on the pig genome assembly (Sato et al., 2005). However, the gene or single nucleotide polymorphism associated with porcine IMF has not been identified. In livestock, despite the large number of QTL that have been found for economically important traits, very few causative polymorphisms have been convincingly identified (Womack, 2005). Hundreds of QTL have been identified in pigs (Rothschild, 2003;Rothschild et al., 2007), but, in this species, only a few causative mutations have been reported so far, including those affecting muscle mass and fat deposition (Jeon et al., 1999;Nezer et al., 1999), glycogen content (Milan et al., 2000), tenderness (Ciobanu et al., 2004), and vertebral number (Mikawa et al., 2011).The aim of the present study was to search for polymorphisms in the exons of the 9 genes located in a QTL for intramuscular fat on porcine chromosome 7 as well as PCR-restriction fragment length polymorphism (PCR-RFLP) assays for non-synonymous polymorphisms, allele frequencies, and haplotypes occurring in the Landrace, La...