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Presence of this alternative promoter suggests that SNP4 and other genetic variations located in its vicinity might influence its activity, thereby affecting the relative expression of specific PI3K isoforms.
We have analyzed 26 samples containing 13 DNA sequence variations located in 6 exons, using both HRMA and SSCP.
However, we can not exclude the possibility that there are sequence variations located in other regions that might affect their functions.
How those genetic variations located in the upstream of C3orf23 affect the expression of ZADH2 gene in a trans- manner remains unknown.
How does Veridical decide which sequence variant is causative if there are multiple variations located in the vicinity of a given mis-spliced exon?
Correspondingly, recent literatures have identified the content that variations located in microRNA binding sites could affect miRNA-target recognition efficiency and gene expression and thus potentially to be associated with cancers [ 43].
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By using the MutMap method, we found that a single nucleotide polymorphism (SNP) variation located in the second exon of OsLAP6/OsPKS1 was responsible for the mutant phenotype.
Further, we found one nucleotide variation located in the third exon which results in the substitution of a histidine (CAT) in the trypsin-like serine and cysteine protease domain of the large LVA and LVPA by an arginine (CGT) in the small LVA and LVPA (Additional file 6: Fig. S4).
These include variation located in genes involved in innate immunity, which may account for individual differences in the response to pathogens.
One variation located in the PPT site changed from guanine (GGGAGGGGG) in line 63 to adenine (GAGAGGGGG) in line 72, and another variation mutated from thymidine (T) in line 63 to cytosine (C) in line 72.
The rs4245739 is an A/C variation located in the 3′UTR of MDM4 in an miR-191 binding site.
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