Association of the single nucleotide polymorphisms in RUNX1, DYRK1A, and KCNJ15with Blood Related Traits in Pigs

Abstract

The aim of this study was to detect positional candidate genes located within the support interval (SI) regions based on the results of red blood cell, mean corpuscular volume(MCV), and mean corpuscularhemoglobinquantitative trait locus(QTL)in Sus scrofachromosome 13, and to verify the correlation between specific single-nucleotide polymorphisms (SNPs)located in the exonic region of the positional candidate gene and the three genetic traits. Theflanking markers of thethree QTLSI regionsare SW38and S0215. Within the QTL SI regions, 44 genes were located, and runt-related transcription factor 1, dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), and potassium inwardly-rectifying channel, subfamily J, member 15 KCNJ15-which are reported to be related to the hematologicaltraits and clinical features of Down syndrome-were selected as positional candidate genes. The ten SNPs located in the exonic region of the three genes were detected by nextgeneration sequencing. A total of 1,232 pigs of an F2resource population between Landrace and Korean native pigswere genotyped. To investigate the effects of the three genes on each genotype, a mixed-effect model which is the considering family structure model was used to evaluate the associations between the SNPs and three genetic traits in the F2intercross population. Among them, the MCV level washighly significant (nominal p= 9.8×10-9) in association with theDYRK1A-SNP1 (c.2989 G