Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2004;5(10):244.
doi: 10.1186/gb-2004-5-10-244. Epub 2004 Sep 30.

Gene-dosage effects in Down syndrome and trisomic mouse models

Katheleen Gardiner  1
Affiliations
Review

Gene-dosage effects in Down syndrome and trisomic mouse models

Katheleen Gardiner. Genome Biol. 2004.

Abstract

The abnormalities found in human Down syndrome (trisomy 21) have been thought to result from increased expression of genes on chromosome 21 because of their higher gene dosage. Now, several groups have shown this to be generally the case, but some inter-individual variability and other exceptions were found.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Human chromosome 21 and homologous regions in mouse models. Regions that are syntenic with mouse chromosomes are indicated on the left; those that are trisomic in the major mouse models are indicated on the right. See text for further details.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Epstein CJ. Down syndrome (trisomy 21). In: Scriver CA, Beaudet AL, Sly WS, Valle D, editor. In Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill; 1995. pp. 749–794.
    1. Pennington BF, Moon J, Edgin J, Stedron J, Nadel L. The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. Child Dev. 2003;74:75–93. doi: 10.1111/1467-8624.00522. - DOI - PubMed
    1. Nadel L. Down's syndrome: a genetic disorder in biobehavioral perspective. Genes Brain Behav. 2003;2:156–166. doi: 10.1034/j.1601-183X.2003.00026.x. - DOI - PubMed
    1. Gardiner K, Fortna A, Bechtel L, Davisson MT. Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions. Gene. 2003;318:137–147. doi: 10.1016/S0378-1119(03)00769-8. - DOI - PubMed
    1. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA. 1994;91:4997–5001. - PMC - PubMed

Publication types