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Croat Med J. 2005 Aug;46(4):647-56.

Gene expression profile of human Down syndrome leukocytes.

Author information

1
Department of Genetics and Evolution, Federal University of Sao Carlos, Rodovia Washington Luis, Km 235, CEP 13565-905, Sao Carlos, SP, Brazil.

Abstract

AIM:

Identification of differences in the gene expression patterns of Down syndrome and normal leukocytes.

METHODS:

We constructed the first Down syndrome leukocyte serial analysis of gene expression (SAGE) library from a 28 year-old patient. This library was analyzed and compared with a normal leukocyte SAGE library using the eSAGE software. Reverse transcriptase polymerase chain reaction (RT-PCR) was used to validate the results.

RESULTS:

We found that a large number of unidentified transcripts were overexpressed in Down syndrome leukocytes and some transcripts coding for growth factors (e.g. interleukin 8, IL-8), ribosomaproteins (e.g. L13a, L29, and L37), and transcription factors (e.g., Jun B, Jun D, and C/EBP beta) were underexpressed. The SAGE data were successfully validated for the genes IL-8, CXCR4, BCL2A1, L13a, L29, L37, and GTF3A using RT-PCR.

CONCLUSION:

Our analysis identified significant changes in the expression pattern of Down syndrome leukocytes compared with normal ones, including key regulators of growth and proliferation, ribosomal proteins, and a large number of overexpressed transcripts that were not matched in UniGene clusters and that may represent novel genes related to Down syndrome. This study offers a new insight into transcriptional changes in Down syndrome leukocytes and indicates candidate genes for further investigations into the molecular mechanism of Down syndrome pathology.

PMID:
16100769
[Indexed for MEDLINE]
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