Sequencing and gene expression of the porcine ITIH SSC13 cluster and its effect on litter size in an Iberian × Meishan F2 population

The aim of the present study was to identify polymorphisms and to analyze endometrial gene expression of the porcine SSC13 ITIH cluster that could explain differences in prolificacy of 255 F2 sows derived from an Iberian (Ib) × Meishan (Me) intercross in which QTL for the number of piglets born alive (NBA) and total number of piglets born (TNB) were previously detected on this chromosome. Sequencing of ITIH-1, -3, and -4 mRNAs was done and several polymorphisms segregating within the Ib × Me population were found in all three genes. Significant associations with NBA were found for two SNPs from ITIH-1, four from ITIH-3, and four SNPs from ITIH-4 (p < 0.05). Haplotypes for the significant SNPs were calculated by segregation analysis and a marker assisted association test indicated that the alleles coming from the Meishan breed had a favorable effect on NBA for all three genes. Interestingly, some of the significant SNPs were located within the von Willebrand domain of the ITIH proteins, the binding site of molecules essential for the synthesis of the extracellular matrix during cumulus expansion. Gene expression analyses also revealed differences in the expression level of the ITIH-3 gene regarding the prolificacy performance (high or low) and the uterus sample (apical or basal).