Research Article

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

Table 3

Genes down-regulated in RTT patients by LIMMA and SAM analyses.

NCBI reference sequenceGene symbolGene nameMolecular function Biological processFold change

NM_170601.4SIAESialic acid acetylesteraseSialate O-acetylesterase activity−2.3

NR_002312.1RPPH1Ribonuclease P RNA component H1−2.2

NM_005322.2HIST1H1BHistone cluster 1, H1bDNA bindingNucleosome assembly−1.8

NM_000902.3MMEMembrane metalloendopeptidaseMetalloendopeptidase activityProteolysis−1.8

NM_032047.4B3GNT5UDP-GlcNAc: betaGal beta-1,3-N-acetylglucosaminyltransferase 5Galactosyltransferase activityGlycolipid biosynthetic process; posttranslational protein modification−1.7

NM_003513.2HIST1H2ABHistone cluster 1, H2abDNA bindingNucleosome assembly−1.7

NR_002562.1SNORD28Small nucleolar RNA, C/D box 28−1.5

NM_004668.2MGAMMaltase-glucoamylase (alpha-glucosidase)Alpha-glucosidase activity; amylase activityCarbohydrate metabolic process−1.5

NM_012081.5ELL2Elongation factor, RNA polymerase II, 2Regulation of transcription, DNA-dependent−1.4

NM_021066.2HIST1H2AJHistone cluster 1, H2ajDNA bindingnucleosome assembly−1.4

NM_002424.2MMP8Matrix metallopeptidase 8 (neutrophil collagenase)Metalloendopeptidase activity; zinc ion bindingProteolysis−1.4

NM_004994.2MMP9Matrix metallopeptidase 9 (gelatinase B, 92 kDa, gelatinase, 92 kDa, type IV collagenase)Collagen binding; metalloendopeptidase activity; zinc ion bindingCollagen catabolic process; extracellular matrix disassembly; positive regulation of apoptotic process; proteolysis
−1.4

NM_003533.2HIST1H3IHistone cluster 1, H3iDNA bindingNucleosome assembly; regulation of gene silencing−1.3

NG_000861.4GK3PGlycerol kinase 3 pseudogeneATP binding; glycerol kinase activityCatabolic process; glycerol metabolic process−1.3

NR_033423.1LOC1720Dihydrofolate reductase pseudogene−1.3

NM_003521.2HIST1H2BMHistone cluster 1, H2bmDNA bindingNucleosome assembly−13

NM_002417.4MKI67Antigen identified by monoclonal antibody Ki-67ATP bindingDNA metabolic process; cell proliferation; cellular response to heat; meiosis; organ regeneration−1.2

NM_020406.2CD177CD177 moleculeBlood coagulation; leukocyte migration−1.2

NM_001039841.1ARHGAP11BRho GTPase activating protein 11BGTPase activator activityPositive regulation of GTPase activity; regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction−1.2

NM_001004690.1OR2M5Olfactory receptor, family 2, subfamily M, member 5G-protein coupled receptor activity; olfactory receptor activityDetection of chemical stimulus involved in sensory perception of smell−1.2

NM_052966.3FAM129AFamily with sequence similarity 129, member ANegative regulation of protein phosphorylation; positive regulation of protein phosphorylation; positive regulation of translation; response to endoplasmic reticulum stress−1.2

NM_001067.3TOP2ATopoisomerase (DNA) II alpha 170 kDaATP binding; DNA binding, bending; chromatin binding; drug binding; magnesium ion binding; ubiquitin bindingDNA ligation; DNA repair; DNA topological change; DNA-dependent DNA replication; apoptotic chromosome condensation; mitotic cell cycle; phosphatidylinositol-mediated signaling; positive regulation of apoptotic process; positive regulation of retroviral genome replication; positive regulation of transcription from RNA polymerase II promoter; sister chromatid segregation−1.2

NM_021018.2HIST1H3FHistone cluster 1, H3fDNA bindingS phase; blood coagulation; nucleosome assembly;
regulation of gene silencing
−1.2

NM_182707.2PSG8Pregnancy specific beta-1-glycoprotein 8The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental
syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which
belongs to the immunoglobulin superfamily.
Female pregnancy−1.2

NM_003535.2HIST1H3JHistone cluster 1, H3jDNA bindingS phase; blood coagulation; nucleosome assembly;
regulation of gene silencing
−1.2

NM_004566.3PFKFB36-Phosphofructo-2-kinase/fructose-2,6-biphosphatase 36-Phosphofructo-2-kinase activity; ATP binding; fructose-2,6-bisphosphate 2-phosphatase activityFructose metabolic process; glycolysis; small molecule metabolic process−1.2

NM_016448.2DTLDenticleless E3 ubiquitin-protein ligase homolog (Drosophila)DNA replication; G2 DNA damage checkpoint; protein monoubiquitination; protein polyubiquitination; ubiquitin-dependent protein catabolic process−1.2

NG_001019.5IGHMImmunoglobulin heavy constant muAntigen bindingImmune response−1.2

NR_002907.2SNORA73ASmall nucleolar RNA, H/ACA box 73A−1.2

“—”: lacking item.