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46/100

✓ Peer-reviewed alzhub usefulness score 46 out of 100. Down syndrome and Alzheimer's

Topic: Brain proteins, microglia and lab models

Mouse trisomy 16 has been proposed as an animal model of Down syndrome (DS), since this chromosome contains homologues of several loci from the q22 band of human chromosome 21. The recent mapping of the defect causing familial Alzheimer disease (FAD) and the locus encoding the Alzheimer amyloid beta precursor protein (APP) to human chromosome 21 has prompted a more detailed examination of the extent of conservation of this linkage group between the two species. Using anonymous DNA probes and cloned genes from human chromosome 21 in a combination of recombinant inbred and interspecific mouse backcross analyses, we have established that the linkage group shared by mouse chromosome 16 includes not only the critical DS region of human chromosome 21 but also the APP gene and FAD-linked markers. Extending from the anonymous DNA locus D21S52 to ETS2, the linkage map of six loci spans 39% recombination in man but only 6.4% recombination in the mouse. A break in synteny occurs distal to ETS2, with the homologue of the human marker D21S56 mapping to mouse chromosome 17. Conservation of the linkage relationships of markers in the FAD region suggests that the murine homologue of the FAD locus probably maps to chromosome 16 and that detailed comparison of the corresponding region in both species could facilitate identification of the primary defect in this disorder. The break in synteny between the terminal portion of human chromosome 21 and mouse chromosome 16 indicates, however, that mouse trisomy 16 may not represent a complete model of DS.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Cheng, S. V., Nadeau, J. H., Tanzi, R. E., Watkins, P. C., Jagadesh, J., Taylor, B. A., et al. (1988). Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. Proceedings of the National Academy of Sciences of the United States of America. https://doi.org/10.1073/pnas.85.16.6032

Vancouver

Cheng SV, Nadeau JH, Tanzi RE, Watkins PC, Jagadesh J, Taylor BA, et al. Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. Proceedings of the National Academy of Sciences of the United States of America. 1988. doi:10.1073/pnas.85.16.6032. PMID: 2901095.

BibTeX

@article{cheng1988-2901095,
  author  = {Cheng, S. V. and Nadeau, J. H. and Tanzi, R. E. and Watkins, P. C. and Jagadesh, J. and Taylor, B. A. and Haines, J. L. and Sacchi, N. and others},
  title   = {{Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17}},
  journal = {Proceedings of the National Academy of Sciences of the United States of America},
  year    = {1988},
  doi     = {10.1073/pnas.85.16.6032},
  pmid    = {2901095},
  url     = {https://doi.org/10.1073/pnas.85.16.6032}
}

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Key findings

Conservation of the linkage relationships of markers in the FAD region suggests that the murine homologue of the FAD locus probably maps to chromosome 16 and that detailed comparison of the corresponding region in both species could facilitate identification of the primary defect in this disorder.

Why it matters

This mapping study found that the mouse chromosome 16 region includes the amyloid precursor protein gene and markers linked to familial Alzheimer disease. It is basic genetic mapping and does not test treatment, cure, or prevention.

Study details

Effect size6.4%
Evidence strengthLow

How this study scored 46/100

Published in a peer-reviewed journal. Scored zero for study design, sample size and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Proceedings of the National Academy of Sciences of the United States of America)
Journal's citation record	4 / 4	Proceedings of the National Academy of Sciences: journal h-index 1,167 (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	1988 — 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	2 / 3	Effect reported as a number, without an interval or test
Studied in people	0 / 3	Laboratory or animal study (title names “mouse”) — scores zero
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	4 / 7	Cited 76 times (OpenAlex, 2026-10-10)
Citations per year	1 / 5	1.9 citations a year over 40 year(s) since 1988
Impact for its field and year	4 / 6	Cited 16.9× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 6 other studies in this library
Still being cited	0 / 4	Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author James F. Gusella: h-index 134 (OpenAlex, whole career)
Institution's track record	3 / 3	Harvard University: institution h-index 3,235 (OpenAlex)
Multicenter collaboration	1 / 3	OpenAlex lists 2 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 2901095)
Free to read	0 / 2	Behind a paywall — scores zero
Total	46 / 100	—

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