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Document Version Version Comment Date Status
173666.0 Automatic journal name synchronization 10.07.2004 20:00 Released

ID: 173666.0, MPI für molekulare Genetik / Department of Vertebrate Genomics
Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part I)
Authors:Cheon, M. S.; Kim, S. H.; Yaspo, Marie-Laure; Blasi, F.; Aoki, Y.; Melen, K.; Lubec, G.
Date of Publication (YYYY-MM-DD):2003
Title of Journal:Amino Acids
Journal Abbrev.:Amino Acids
Issue / Number:1-2
Start Page:111
End Page:117
Copyright:© Springer-Verlag 2002
Review Status:not specified
Audience:Experts Only
Abstract / Description:Summary. Down syndrome (DS) is the most significant genetic disorder with mental retardation and is caused by trisomy 21. The phenotype of DS is thought to result from overexpression of a gene(s) located on the triplicated chromosome (region). An increasing body of evidence that challenge this "gene dosage effect" hypothesis, however, has been reported indicating that this hypothesis still remains to be elucidated. The availability of the complete sequence of genes on chromosome 21 could have an immediate impact on DS research, but no conclusions can be drawn from nucleic acid levels. This made us evaluate protein levels of six proteins, gene products, encoded on chromosome 21 (T-cell lymphoma invasion and metastasis inducing Tiam1 protein, holocarboxylase synthetase, human interferon-regulated resistance GTP-binding protein MxA, Pbx regulating protein 1, autoimmune regulator, and pericentrin) in fetal cortex from DS and controls at 18-19 weeks of gestational age using Western blot technique. None of the investigated proteins showed overexpression in DS compared to controls. Our present data showing unaltered expression of six proteins on chromosome 21 in fetal DS brain suggest that the existence of the trisomic state is not involved in abnormal development of fetal DS brain and that the gene dosage effect hypothesis is not sufficient to fully explain the DS phenotype. We are in the process of quantifying all gene products of chromosome 21 and our first results do not support the gene dosage hypothesis.
Free Keywords:AIRE, chromosome 21, Down syndrome, HCS, MxA, pericentrin, Prep1, protein expression, Tiam1
Comment of the Author/Creator:Published online November 14, 2002;
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans Lehrach
Affiliations:MPI für molekulare Genetik
External Affiliations:Univ Vienna, Dept Pediat, A-1090 Vienna, Austria.; Max Planck Inst Mol Genet, Berlin, Germany.; Univ Vita Salute S Raffaele, Mol Genet Unit, DIBIT, Milan, Italy.; Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi, Japan.; Natl Publ Hlth Inst, Dept Microbiol, Helsinki, Finland.
Identifiers:ISI:000182047800012 [ID No:1]
ISSN:0939-4451 [ID No:2]
ISSN:1438-2199 [ID No:3]
DOI:10.1007/s00726-002-0336-2 [ID No:4]