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Cited by 35Down syndrome and intellectual disability researchGenetics and Neurodevelopmental DisordersAlzheimer's disease research and treatments

Protein levels of genes encoded on chromosome 21 in fetal down syndrome brain: challenging the gene dosage effect hypothesis (part II)

Cheon, M. S., Bajo, M., Kim, S. H., Claudio, J. O., Stewart, A. K., Patterson, D., Kruger, W. D., Kondoh, H. +1 more·2003·Amino Acids
DOI 10.1007/s00726-002-0337-1
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Abstract

Down syndrome (DS) is the most common genetic cause of mental retardation. To explain the impact of extra chromosome 21 in the pathology of DS, gene dosage effect hypothesis has been proposed, but several investigators including our group have challenged this hypothesis. Although analysis of the sequence of chromosome 21 has been essentially completed, the molecular and biochemical mechanisms underlying the pathology are still unknown. We therefore investigated expression levels of six proteins encoded on chromosome 21 (HACS1, DYRK1A, alphaA-crystallin, FTCD, GARS-AIRS-GART, and CBS) in fetal cerebral cortex from DS and controls at 18-19 weeks of gestational age using Western blot analysis. Protein expression of HACS1 was significantly and remarkably decreased in DS, and the expression levels of five proteins were comparable between DS and controls suggesting that the gene dosage effect hypothesis is not sufficient to fully explain the DS phenotype. We are continuing to quantify proteins whose genes are encoded on chromosome 21 in order to provide a better understanding of the pathobiochemistry of DS at the protein level.

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Crossref · 10.1007/s00726-002-0337-1

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  • A study of protein expression in human female fetuses with and without trisomy (n = 4 each) at gestational week 18-19 found no differences in protein expression.

    “Notably, a study of protein expression in human female fetuses with and without trisomy (n = 4 each) at gestational week 18–19, a stage of human brain development that is roughly equivalent to the late fetal period in mouse brain development (Workman et al., 2013), found no differences in protein expression (Cheon et al., 2003).”

    From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Cheon et al., 2003

  • DYRK1A expression in the trisomic system is not consistently upregulated 1.5-fold that of normal gene expression.

    “As we and others have previously described, DYRK1A expression in the trisomic system is not consistently upregulated 1.5-fold that of normal gene expression (Cheon et al., 2003; Goodlett et al., 2020; Stringer et al., 2017a).”

    From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Cheon et al., 2003

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Authors
Cheon, M. S., Bajo, M., Kim, S. H., Claudio, J. O., Stewart, A. K., Patterson, D., Kruger, W. D., Kondoh, H., & Lubec, G.
Affiliations
  • University of Vienna (AT)
  • Roosevelt Institute (US)
  • Fox Chase Cancer Center (US)
  • The University of Osaka (JP)
ORCID
Venue
Amino Acids
Publisher
Springer Science and Business Media LLC
Published
2003-03
Volume
24
Issue
1
Pages
119-125
ISSN
  • 0939-4451 (ISSN-L)
  • 1438-2199
DOI
10.1007/s00726-002-0337-1
OpenAlex
W4238753571
Cited by
35
References
0
Citations by year
2025: 2 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 2 · 2019: 1 · 2018: 1 · 2015: 2 · 2012: 3
FWCI
2.71
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Amino Acids (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health
  • National Institute of Child Health and Human Development
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD17449, P01HD017449)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords
Down syndrome, chromosome 21, fetal cerebral cortex, protein expression, DYRK1A, alphaA-crystallin, CBS, intellectual disability
MeSH terms
Brain, Chromosomes, Human, Pair 21, Down Syndrome, Female, Humans, Nerve Tissue Proteins, Blotting, Western, Case-Control Studies, Gene Dosage

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