Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome
Braz. j. med. biol. res
;
47(10): 834-841, 10/2014. tab, graf
Artigo
em Inglês
| LILACS
| ID: lil-722173
ABSTRACT
In this study, biomarkers and transcriptional factor motifs were identified in order to investigate the etiology and phenotypic severity of Down syndrome. GSE 1281, GSE 1611, and GSE 5390 were downloaded from the gene expression ominibus (GEO). A robust multiarray analysis (RMA) algorithm was applied to detect differentially expressed genes (DEGs). In order to screen for biological pathways and to interrogate the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway database, the database for annotation, visualization, and integrated discovery (DAVID) was used to carry out a gene ontology (GO) function enrichment for DEGs. Finally, a transcriptional regulatory network was constructed, and a hypergeometric distribution test was applied to select for significantly enriched transcriptional factor motifs. CBR1, DYRK1A, HMGN1, ITSN1, RCAN1, SON, TMEM50B, and TTC3 were each up-regulated two-fold in Down syndrome samples compared to normal samples; of these, SON and TTC3 were newly reported. CBR1, DYRK1A, HMGN1, ITSN1, RCAN1, SON, TMEM50B, and TTC3 were located on human chromosome 21 (mouse chromosome 16). The DEGs were significantly enriched in macromolecular complex subunit organization and focal adhesion pathways. Eleven significantly enriched transcription factor motifs (PAX5, EGR1, XBP1, SREBP1, OLF1, MZF1, NFY, NFKAPPAB, MYCMAX, NFE2, and RP58) were identified. The DEGs and transcription factor motifs identified in our study provide biomarkers for the understanding of Down syndrome pathogenesis and progression.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Fatores de Transcrição
/
Síndrome de Down
/
Biologia Computacional
/
Motivos de Aminoácidos
/
Redes Reguladoras de Genes
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
Limite:
Animais
/
Humanos
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2014
Tipo de documento:
Artigo
País de afiliação:
China
Instituição/País de afiliação:
Zhengzhou University/CN
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