Research Article

Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients

Table 4

GO analysis of genes reported to be deregulated in PBMC of RTT patients.

Term Description valueFold enrichment

Cluster 1
GO:0022900Electron transport chain 9.01
GO:0006091Generation of precursor metabolites and energy 5.06
GO:0045333Cellular respiration 9.71
GO:0006120Mitochondrial electron transport, NADH to ubiquinone 16.32
GO:0022904Respiratory electron transport chain 12.04
GO:0006119Oxidative phosphorylation 9.17
GO:0042775Mitochondrial ATP synthesis coupled electron transport 12.99
GO:0042773ATP synthesis coupled electron transport 12.99
GO:0015980Energy derivation by oxidation of organic compounds 6.54
GO:0055114Oxidation reduction 3.01

Cluster 2
GO:0006626Protein targeting to mitochondrion 8.81
GO:0070585Protein localization in mitochondrion 8.81
GO:0045039Protein import into mitochondrial inner membrane 28.54
GO:0007007Inner mitochondrial membrane organization 19.03
GO:0006839Mitochondrial transport 4.96

Cluster 3
GO:0051436Negative regulation of ubiquitin-protein ligase activity during mitotic cell cycle 7.24
GO:0051444Negative regulation of ubiquitin-protein ligase activity 7.03
GO:0051352Negative regulation of ligase activity 7.03
GO:0051437Positive regulation of ubiquitin-protein ligase activity during mitotic cell cycle 6.92
GO:0051443Positive regulation of ubiquitin-protein ligase activity 6.73
GO:0051439Regulation of ubiquitin-protein ligase activity during mitotic cell cycle 6.63
GO:0051351Positive regulation of ligase activity 6.45
GO:0051438Regulation of ubiquitin-protein ligase activity 6.04
GO:0051340Regulation of ligase activity 5.81
GO:0043086Negative regulation of catalytic activity 2.78
GO:0044092Negative regulation of molecular function 2.56

Cluster 4
GO:0031145Anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process 7.24
GO:0010498Proteasomal protein catabolic process 4.62
GO:0043161Proteasomal ubiquitin-dependent protein catabolic process 4.62

Cluster 5
GO:0031397Negative regulation of protein ubiquitination 6.36
GO:0031400Negative regulation of protein modification process 4.68
GO:0031398Positive regulation of protein ubiquitination 5.61
GO:0032269Negative regulation of cellular protein metabolic process 3.58
GO:0031396Regulation of protein ubiquitination 4.71
GO:0051248Negative regulation of protein metabolic process 3.43
GO:0031401Positive regulation of protein modification process 2.98
GO:0032268Regulation of cellular protein metabolic process 2.08

Cluster 6
GO:0065003Macromolecular complex assembly 2.96
GO:0043933Macromolecular complex subunit organization 2.77
GO:0034622Cellular macromolecular complex assembly 3.63
GO:0034621 Cellular macromolecular complex subunit organization 3.24
GO:0065004Protein-DNA complex assembly 6.12
GO:0034728Nucleosome organization 5.52
GO:0006461Protein complex assembly 2.37
GO:0070271Protein complex biogenesis 2.37

Cluster 7
GO:0006334Nucleosome assembly 6.12
GO:0031497Chromatin assembly 5.90
GO:0006323DNA packaging 4.76
GO:0006333Chromatin assembly or disassembly 4.04

Cluster 8
GO:0008380RNA splicing 3.77
GO:0006396RNA processing 2.82
GO:0006397mRNA processing 3.20
GO:0000398Nuclear mRNA splicing, via spliceosome 4.48
GO:0000377RNA splicing, via transesterification reactions with bulged adenosine as nucleophile 4.48
GO:0000375RNA splicing, via transesterification reactions 4.48
GO:0016071mRNA metabolic process 2.78

Cluster 9
GO:0006412Translation 4.01
GO:0006414Translational elongation 5.93

Cluster 10
GO:0006367Transcription initiation from RNA polymerase II promoter 6.30
GO:0006352Transcription initiation 5.16

Cluster 11
GO:0006368RNA elongation from RNA polymerase II promoter 7.13
GO:0006354RNA elongation 6.71