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Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease
Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, Ikeda M, Holman K et al.. Genomics, 1997-03-01
Topic: Amyloid, tau and blood-test diagnosis
Mutations in the human presenilin genes (PSEN1 and PSEN2) are associated with early onset familial Alzheimer disease. The presenilin genes encode integral membrane proteins with similar structures, which suggests that they may have closely related, but as yet unknown functions. Analysis of the 5' upstream sequence and the structure of the PSEN1 gene reveals that the 5' sequence contains multiple putative transcription regulatory elements including clusters of STAT elements involved in transcriptional activation in response to signal transduction.
Key findings
- The presenilin genes encode integral membrane proteins with similar structures, which suggests that they may have closely related, but as yet unknown functions.
- Analysis of the 5' upstream sequence and the structure of the PSEN1 gene reveals that the 5' sequence contains multiple putative transcription regulatory elements including clusters of STAT elements involved in transcriptional activation in response to signal transduction.
- The first four exons contain untranslated sequences, with Exons 1 and 2 representing alternate initial transcription sites.
- The function of these alternate initial exons is unclear.
Why it matters
This study analyzed the 5' sequence, genomic structure and alternative splicing of the presenilin-1 gene associated with early-onset Alzheimer's disease. It is a gene structure analysis and does not test any treatment, cure or prevention.
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Study details
- Evidence strengthLow
How this study scored 43/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genomics) |
| Journal's citation record | 2 / 4 | Genomics: journal h-index 216 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1997 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 128 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.1 citations a year over 31 year(s) since 1997 |
| Impact for its field and year | 3 / 6 | Cited 6.9× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 0 / 4 | Cited 2 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Peter St George‐Hyslop: h-index 121 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University of Toronto: institution h-index 1,923 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 9073509) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 43 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Rogaev, E. I., Sherrington, R., Wu, C., Levesque, G., Liang, Y., Rogaeva, E. A., et al. (1997). Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. https://doi.org/10.1006/geno.1996.4523
Vancouver
Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, et al. Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 1997. doi:10.1006/geno.1996.4523. PMID: 9073509.
BibTeX
@article{rogaev1997-9073509,
author = {Rogaev, E. I. and Sherrington, R. and Wu, C. and Levesque, G. and Liang, Y. and Rogaeva, E. A. and Ikeda, M. and Holman, K. and others},
title = {{Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease}},
journal = {Genomics},
year = {1997},
doi = {10.1006/geno.1996.4523},
pmid = {9073509},
url = {https://doi.org/10.1006/geno.1996.4523}
}
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