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 corpuscular hemoglobin quantitative trait locus (QTL) in Sus scrofa chromosome 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. The flanking markers of the three QTL SI regions are SW38 and 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 hematological traits 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 next generation sequencing. A total of 1,232 pigs of an F2 resource population between Landrace and Korean native pigs were 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 F2 intercross population. Among them, the MCV level was highly significant (nominal p = 9.8×10−9) in association with the DYRK1A-SNP1 (c.2989 G<A), and explained 4.9% of the phenotypic variance. However, since linkage disequilibrium is quite extensive in an F2 intercross, our approach has limited power to distinguish one particular positional candidate gene from a QTL region.

Highlights

  • Candidate genes generally refer to the genes that are known to have biochemical and physiological functions that can influence the variation of specific genetic traits

  • Dual-specificity tyrosine-(Y)-phosphorylation regulated were compared with the orthologous regions on human kinase 1A (DYRK1A, XM_003132770.4) is known as chromosomes to detect the positional candidate genes participates in various cellular processes and encodes a associated with the traits

  • 3, 18, 21, and Y were orthologous with Sus scrofa chromosome 13 (SSC13); among them, regulated kinases

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Summary

Introduction

Candidate genes generally refer to the genes that are known to have biochemical and physiological functions that can influence the variation of specific genetic traits. The effects of genetic variations within genes on phenotypic variations are generally verified through an association analysis. While a number of candidate genes have repeatedly been identified regarding economic traits, in. Sci. 29:1675-1681 disadvantages of being time consuming and expensive.

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