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

David M. Holtzman, Richard M. Bayney, Yiwen Li, Houman Khosrovi, Christopher N. Berger, Charles J. Epstein, William C. Mobley

Research output: Contribution to journalArticle

57 Citations (Scopus)

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
Pages (from-to)619-627
Number of pages9
JournalEMBO Journal
Volume11
Issue number2
StatePublished - Dec 1 1992
Externally publishedYes

Fingerprint

Down Syndrome
Gene expression
Animals
Animal Models
Genes
Gene Expression
Aneuploidy
Tissue
Phenotype
Application programs
Trisomy Chromosome 16
Enzymes

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

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.

Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome. / Holtzman, David M.; Bayney, Richard M.; Li, Yiwen; Khosrovi, Houman; Berger, Christopher N.; Epstein, Charles J.; Mobley, William C.

In: EMBO Journal, Vol. 11, No. 2, 01.12.1992, p. 619-627.

Research output: Contribution to journalArticle

Holtzman, DM, Bayney, RM, Li, Y, Khosrovi, H, Berger, CN, Epstein, CJ & Mobley, WC 1992, 'Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome', EMBO Journal, vol. 11, no. 2, pp. 619-627.
Holtzman DM, Bayney RM, Li Y, Khosrovi H, Berger CN, Epstein CJ et al. Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome. EMBO Journal. 1992 Dec 1;11(2):619-627.
Holtzman, David M. ; Bayney, Richard M. ; Li, Yiwen ; Khosrovi, Houman ; Berger, Christopher N. ; Epstein, Charles J. ; Mobley, William C. / Dysregulation of gene expression in mouse trisomy 16, an animal model of Down syndrome. In: EMBO Journal. 1992 ; Vol. 11, No. 2. pp. 619-627.
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