Effect of increased gene dosage expression on the alpha-interferon receptors in Down's syndrome.
The gene coding for the alpha, beta-interferon (alpha, beta-IFN) receptor is localized to chromosome 21. Cells from patients with Down's syndrome contain an extra chromosome 21, and thereby an expected 1.5-times increase in the number of genes located to this chromosome and in consequence a 1.5-times increase in cell surface alpha-IFN receptors. Actual measurements of these by competition binding experiments with human recombinant alpha-IFN on peripheral blood mononuclear cells (PBMC) from patients with Down's syndrome resulted in a mean of 1.69, which is in accordance to the theoretical 1.50, but slightly overestimated due to the calculation method. The increased gene dosage of the alpha-IFN receptor was quantitatively verified by Southern blot-hybridizations. Further characterization of alpha-IFN receptor binding showed insignificant differences in dissociation constants among patients and healthy individuals.
Gerdes
A M
AM
Department of Clinical Chemistry, Odense University Hospital, Denmark.
Hørder
M
M
Petersen
P H
PH
Bonnevie-Nielsen
V
V
D002891:Chromosomes, Human, Pair 21; D003198:Computer Simulation; D004314:Down Syndrome / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D016898:Interferon-alpha / Q000378:metabolism*; D009000:Monocytes / Q000378:metabolism*; D017471:Receptors, Interferon / Q000235:genetics* / Q000378:metabolism
D016898:Interferon-alpha; D017471:Receptors, Interferon