2. Bertram et al. (2005) , NEJM, 352:

3. Bertram et al. (2005) , NEJM, 352:

4. Bertram et al. (2005) , NEJM, 352:

5. Bertram et al. (2005) , NEJM, 352:

6. 1 2 3 4 5 6 7 8 9 11 10
Transcript Variant 1: All 11 exons
Transcript Variant 2: Exon 8 excluded
Ubiquilin 1 Gene (UBQLN1) Differential RNA splicing gives two different mRNA variants:

7. AD Cases have more mRNA variant 2 than Controls.
Transcript Variant 2
Transcript Variant 1
AD Cases
Controls
AD Cases have more mRNA variant 2 than Controls.

8. The C allele gives more “high risk” mRNA than the T allele
Genotype CC (High Risk)
Genotype TC (Medium Risk)
Genotype TT (Low Risk)
The C allele gives more “high risk” mRNA than the T allele
Transcript Variant 2
Transcript Variant 1

9. Conclusion:
A C/T allele in the intron after exon 8 influences RNA splicing.
The C allele results in more transcript variant 2 than the T allele.
The more transcript 2, the greater the risk for Alzheimers.