Gene-dosage effects in Down syndrome and trisomic mouse models.

Eleanor Roosevelt Institute at the University of Denver, Department of Biochemistry and Molecular Genetics, University of Colorado Health Sciences Center, 1899 Gaylord Street, Denver, CO 80206, USA. kgardine@du.edu

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.

PMID: 15461808 [PubMed - indexed for MEDLINE]

PMCID: PMC545589