In the present case control study, a total of five SNPs three in the promoter region given (rs3020449, rs3020450, rs1271572) and two in the
exonic region (rs1256049, rs4986938) of the ER-[beta] gene were selected (http://www.ncbi.nlm.
Kadeva et al., "A genome-wide analysis of putative functional and
exonic variation associated with extremely high intelligence," Molecular Psychiatry, vol.
Sequence analysis revealed fifteen polymorphic sites in amplified
exonic and associated intronic region of Pit1 gene of Pakistani Sahiwal cattle breed.
The mean sequence coverage depth of targeted
exonic regions reached 80.7-fold (ranging from 68.3-fold to 92.2-fold), and the median depth was 63.4-fold (ranging from 54-fold to 73-fold).
Pgc-1[alpha]-a, Pgc-1[alpha]-b, Pgc-1[alpha]-c, and Pgc-1[alpha]4 differ in their N-termini due to transcription starting within either the distal, alternative (exon 1b), or proximal (exon 1a) promoters and also due to alternative splicing of exon 1b to produce exon 1b', whereas NT-Pgc-1[alpha] and FL-Pgc-1[alpha] both contain the full
exonic regions from 1b, 1b/, 1a, and 2 (Figure 2(a)).
Exonic single nucleotide polymorphism (SNP) was examined at whole genome level [26].
Screening of the DNA sequence flankings of rs7003908 (G>T) for enhancer motif,
Exonic Splicing Enhancers (ESEs) and Intronic Splicing Enhancers (ISEs), and silencer motif,
Exonic Splicing Silencers (ESSs) and Intronic Splicing Silencers (ISSs), by HSF 3 and SpliceAid 2 tools have shown almost same results.
By sequencing all the four products in all 221 patients (FET, FPD, and ET-PD) and 100 controls, no
exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected.
No
exonic variant was detected in the MSA patients; four were detected in 6 ALS patients, including P2L and S85R present in PD patients; however, P2L was present at about an equal frequency in controls without neurological disease and S85R was present in 1 patient and 0 controls.
Krainer, "Listening to silence and understanding nonsense:
exonic mutations that affect splicing," Nature Reviews Genetics, vol.
None of the identified SNPs were
exonic or in linkage disequilibrium with
exonic SNPs.
Note that this analysis does not include other categories of mutation, e.g., intronic splice variants, frameshifts, stop codons, etc., and that no other missense
exonic splice variants have been found.
