Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome

D. M. Holtzman, R. M. Bayney, Y. Li, H. Khosrovi, C. N. Berger, C. J. Epstein, W. C. Mobley

Research output: Contribution to journalArticle

58 Scopus citations

Abstract

In humans, trisomy 21 results in a specific phenotype known as Down syndrome (DS). The mechanism by which an extra copy of normal genes leads to the DS phenotype is unknown. Most studies in DS and other aneuploid organisms have shown that gene dose is proportional to gene expression. To date, most genes examined have encoded either metabolic enzymes or constitutively expressed products. In the trisomy 16 mouse, an animal model of DS, we found marked dysregulation of two developmentally regulated genes, App and Prn-p. Dysregulation varied from tissue to tissue and during development in the same tissue. We conclude that abnormal phenotypes seen in aneuploid conditions may result in part from disordered expression of developmentally regulated genes.

Original languageEnglish (US)
Pages (from-to)619-627
Number of pages9
JournalEMBO Journal
Volume11
Issue number2
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

Keywords

  • Alzheimer's disease
  • Amyloid
  • Down syndrome
  • Trisomy 16
  • Trisomy 21

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

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    Holtzman, D. M., Bayney, R. M., Li, Y., Khosrovi, H., Berger, C. N., Epstein, C. J., & Mobley, W. C. (1992). Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome. EMBO Journal, 11(2), 619-627. https://doi.org/10.1002/j.1460-2075.1992.tb05094.x