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  Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part I)

Cheon, M. S., Kim, S. H., Yaspo, M.-L., Blasi, F., Aoki, Y., Melen, K., et al. (2003). Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part I). Amino Acids, 24(1-2), 111-117. doi:10.1007/s00726-002-0336-2.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B0F-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B10-4
Genre: Journal Article
Alternative Title : Amino Acids

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 Creators:
Cheon, M. S., Author
Kim, S. H., Author
Yaspo, Marie-Laure1, Author              
Blasi, F., Author
Aoki, Y., Author
Melen, K., Author
Lubec, G., Author
Affiliations:
1Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479652              

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Free keywords: AIRE, chromosome 21, Down syndrome, HCS, MxA, pericentrin, Prep1, protein expression, Tiam1
 Abstract: 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.

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Language(s): eng - English
 Dates: 2003
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 173666
ISI: 000182047800012
DOI: 10.1007/s00726-002-0336-2
 Degree: -

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Title: Amino Acids
  Alternative Title : Amino Acids
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 24 (1-2) Sequence Number: - Start / End Page: 111 - 117 Identifier: ISSN: 0939-4451
ISSN: 1438-2199