Fig. 4

The schematic structure and the SNP features of ecto-5′-nucleotidase (NT5E). a Schematic representation of the positions of variants from the 5′-upstream region to the 3′-UTR in NT5E. The detailed positions and names of the variants are shown in Table 1. The Q and q haplotypes are defined by the genotypes of the three non-synonymous SNPs on exon 7 and exon 8 and two SNPs on 3′-UTR of exon 9. The Q haplotype has a positive effect on inosine 5′-monophosphate (IMP). Bovine reference (Ref) allele from Gene Bank accession no. NM_174129.3 is also shown. b The IMPase activity of ecto-5′-nucleotidase in COS-7 cells. Q-Q-Q, the construct with Q haplotype; q-q-q, the construct with q haplotype; Q-q-q, the construct mutated from q haplotype to Q allele in c.1318C > T; q-Q-q, the construct mutated from q haplotype to Q allele in c.1475 T > A; q-q-Q, the construct mutated from q haplotype to Q allele in c.1526A > G. The superscript letters indicate significant differences among five constructs tested by analysis of variance followed by a Tukey HSD (honestly significant difference) multiple comparison test (p-value <0.05). c The allelic imbalance test for levels of NT5E mRNA in the heterozygotes. The y-axis shows the ratio of peak height of the Q allele over the q allele in the genomic DNA (gDNA) and the complementary DNA (cDNA) from the same animal. Red bars indicate the mean expression. No significant (N.S.) difference was shown between them. d Multiple sequence alignment of the regions flanking p.His440Tyr, p.Val492Glu, and p.Gln509Arg. Q haplotype and q haplotype sequences of the cattle are shown on the top and other mammalian sequences are shown below