[an error occurred while processing this directive]
Gene set: MYELIN_DOWN_LE (C2:PERT:0044)
Standard nameMYELIN_DOWN_LE
Systematic nameC2:PERT:0044
Brief descriptionGenes downregulated in Egr2Lo/Lo mice (who bear mutations in the transcription factor Egr2 and in which peripheral nerve myelination is disrupted) whose expression is significantly altered after sciatic nerve injury.
CategoryC2: Curated
Sub-categoryPERT: Experimental pertuberation
Full description or Abstract

Toggle abstract view

Egr2 is a transcription factor required for peripheral nerve myelination
in rodents, and mutations in Egr2 are associated with congenital
hypomyelinating neuropathy (CHN) in humans. To further study its
role in myelination, we generated mice harboring a hypomorphic
Egr2 allele (Egr2Lo) that survive for up to 3 weeks postnatally,
a period of active myelination in rodents. These Egr2Lo/Lo mice
provided the opportunity to study the molecular effects of Egr2
deficiency on Schwann cell biology, an analysis that was not possible
previously, because of the perinatal lethality of Egr2-null mice.
Egr2Lo/Lo mice phenocopy CHN, as evidenced by the severe hypomyelination
and increased numbers of proliferating Schwann cells of the peripheral
nerves. Comparison of sciatic nerve gene expression profiles during
development and after crush injury with those of Egr2Lo/Lo Schwann
cells revealed that they are developmentally arrested, with down-regulation
of myelination-related genes and up-regulation of genes associated
with immature and promyelinating Schwann cells. One of the abnormally
elevated genes in Egr2Lo/Lo Schwann cells, Sox2, encodes a transcription
factor that is crucial for maintenance of neural stem cell pluripotency.
Wild-type Schwann cells infected with Sox2 adenovirus or lentivirus
inhibited expression of myelination-associated genes (e.g., myelin
protein zero; Mpz), and failed to myelinate axons in vitro, but
had an enhanced proliferative response to beta-neuregulin. The
characterization of a mouse model of CHN has provided insight
into Schwann cell differentiation and allowed the identification
of Sox2 as a negative regulator of myelination. 
Publication URL15695336
External linksna
Keywords & MeSH headingsPeripheral Nerves/metabolism/pathology,Gene Expression Profiling,Pluripotent Stem Cells/metabolism/pathology,P.H.S.,Neurologic Mutants,DNA-Binding Proteins,Myelin Sheath/metabolism,Schwann Cells,Nuclear Proteins,pathology,Voltage-Gated,genetics,Mice,Cell Differentiation,Demyelinating Diseases,deficiency,Potassium Channels,metabolism
OrganismMouse
Contributed byKate Stafford
Source platformMG_U74Av2
Downloadgrp|xml|map
Genes

101 genes, 112 accessions (Toggle view)

AccessionGeneTitleLinks
92582_atSLC1A5solute carrier family 1 (neutral amino acid transporter), member 5Source|GeneCards
161859_f_atSNCGsynuclein, gammaSource|GeneCards
160396_atLASS2longevity assurance homolog 2 (S. cerevisiae)Source|GeneCards
97949_atFGL2fibrinogen-like protein 2Source|GeneCards
102639_atCHST2carbohydrate sulfotransferase 2Source|GeneCards
99435_atFGF7fibroblast growth factor 7Source|GeneCards
95453_f_atS100A1S100 calcium binding protein A1Source|GeneCards
92369_atTGFAtransforming growth factor alphaSource|GeneCards
98143_atFUT8fucosyltransferase 8Source|GeneCards
160312_atCKLFSF6chemokine-like factor super family 6Source|GeneCards
160095_atLOXlysyl oxidaseSource|GeneCards
160817_atTMEM40transmembrane protein 40Source|GeneCards
97990_atMYH11myosin, heavy polypeptide 11, smooth muscleSource|GeneCards
92202_g_atZBTB16zinc finger and BTB domain containing 16Source|GeneCards
104285_atHMGCR3-hydroxy-3-methylglutaryl-Coenzyme A reductaseSource|GeneCards
100751_atADAM10a disintegrin and metalloprotease domain 10Source|GeneCards
102335_atKCNK1potassium channel, subfamily K, member 1Source|GeneCards
103087_atSULT1A1sulfotransferase family 1A, phenol-preferring, member 1Source|GeneCards
102910_atABCB1AATP-binding cassette, sub-family B (MDR/TAP), member 1ASource|GeneCards
96258_atMGST3microsomal glutathione S-transferase 3Source|GeneCards
160770_atMVDmevalonate (diphospho) decarboxylaseSource|GeneCards
101966_s_atRNF13ring finger protein 13Source|GeneCards
160481_atPCK1phosphoenolpyruvate carboxykinase 1, cytosolicSource|GeneCards
101964_atTKTtransketolaseSource|GeneCards
100494_atFGF1fibroblast growth factor 1Source|GeneCards
103257_at4930577M16RIKRIKEN cDNA 4930577M16 geneSource|GeneCards
94057_g_atSCD1stearoyl-Coenzyme A desaturase 1Source|GeneCards
92545_f_atPTGDSprostaglandin D2 synthase (brain)Source|GeneCards
94807_atSLC25A1solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1Source|GeneCards
97195_atGNAI1guanine nucleotide binding protein, alpha inhibiting 1Source|GeneCards
98613_at2700085E05RIKRIKEN cDNA 2700085E05 geneSource|GeneCards
96311_atMBPmyelin basic proteinSource|GeneCards
160306_atTHRSPthyroid hormone responsive SPOT14 homolog (Rattus)Source|GeneCards
102214_atPRXperiaxinSource|GeneCards
98560_atCLTBclathrin, light polypeptide (Lcb)Source|GeneCards
160938_atMAST2microtubule associated serine/threonine kinase 2Source|GeneCards
93715_atMPZmyelin protein zeroSource|GeneCards
102029_atIL16interleukin 16Source|GeneCards
104516_atCLDN5claudin 5Source|GeneCards
93868_atNSDHLNAD(P) dependent steroid dehydrogenase-likeSource|GeneCards
160479_atCATcatalaseSource|GeneCards
160083_atLPLlipoprotein lipaseSource|GeneCards
160391_atFADS1fatty acid desaturase 1Source|GeneCards
92248_atNR4A2nuclear receptor subfamily 4, group A, member 2Source|GeneCards
92786_atEFHD1EF hand domain containing 1Source|GeneCards
95512_atPCMT1protein-L-isoaspartate (D-aspartate) O-methyltransferase 1Source|GeneCards
103617_atDAF1decay accelerating factor 1Source|GeneCards
160737_atLSSlanosterol synthaseSource|GeneCards
99104_atADIPOQadiponectin, C1Q and collagen domain containingSource|GeneCards
99089_atMALmyelin and lymphocyte protein, T-cell differentiation proteinSource|GeneCards
94794_atFTH1ferritin heavy chain 1Source|GeneCards
98631_g_atNSDHLNAD(P) dependent steroid dehydrogenase-likeSource|GeneCards
102395_atPMP22peripheral myelin proteinSource|GeneCards
93887_atMPDZmultiple PDZ domain proteinSource|GeneCards
93872_atGFRA1glial cell line derived neurotrophic factor family receptor alpha 1Source|GeneCards
101467_atNA
160359_at1190002H23RIKRIKEN cDNA 1190002H23 geneSource|GeneCards
93738_atSLC2A1solute carrier family 2 (facilitated glucose transporter), member 1Source|GeneCards
160877_atOGNosteoglycinSource|GeneCards
92526_f_atBTBD14ABTB (POZ) domain containing 14ASource|GeneCards
92249_g_atNR4A2nuclear receptor subfamily 4, group A, member 2Source|GeneCards
101082_atMOD1malic enzyme, supernatantSource|GeneCards
160851_r_atCOX8Bcytochrome c oxidase, subunit VIIIbSource|GeneCards
94418_atELOVL6ELOVL family member 6, elongation of long chain fatty acids (yeast)Source|GeneCards
103914_atPCYT2phosphate cytidylyltransferase 2, ethanolamineSource|GeneCards
160700_i_atSEMA6Csema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6CSource|GeneCards
161006_atSLCO3A1solute carrier organic anion transporter family, member 3a1Source|GeneCards
92198_s_atDAF1 /// DAF2decay accelerating factor 1 /// decay accelerating factor 2Source|GeneCards
98872_atUGT8AUDP galactosyltransferase 8ASource|GeneCards
93273_atSNCAsynuclein, alphaSource|GeneCards
96592_atPIK3R1phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)Source|GeneCards
160369_atDHCR2424-dehydrocholesterol reductaseSource|GeneCards
98409_atMYO1Bmyosin IBSource|GeneCards
94325_atHMGCS13-hydroxy-3-methylglutaryl-Coenzyme A synthase 1Source|GeneCards
92492_atAK3adenylate kinase 3Source|GeneCards
98630_atNSDHLNAD(P) dependent steroid dehydrogenase-likeSource|GeneCards
103665_atELOVL6ELOVL family member 6, elongation of long chain fatty acids (yeast)Source|GeneCards
102871_atEPHB6Eph receptor B6Source|GeneCards
160464_s_atNDRLN-myc downstream regulated-likeSource|GeneCards
99460_atSEMA3Bsema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3BSource|GeneCards
99549_atOGNosteoglycinSource|GeneCards
93427_atMYO1Dmyosin IDSource|GeneCards
100966_atSERPIND1serine (or cysteine) proteinase inhibitor, clade D, member 1Source|GeneCards
94056_atSCD1stearoyl-Coenzyme A desaturase 1Source|GeneCards
101132_atSCN7Asodium channel, voltage-gated, type VII, alphaSource|GeneCards
104170_atMAPK8IP1mitogen activated protein kinase 8 interacting protein 1Source|GeneCards
103311_atOSBPL5oxysterol binding protein-like 5Source|GeneCards
101561_atMT2metallothionein 2Source|GeneCards
95611_atLPLlipoprotein lipaseSource|GeneCards
95340_atMT3metallothionein 3Source|GeneCards
160375_atCAR3carbonic anhydrase 3Source|GeneCards
160179_atTMEM30Atransmembrane protein 30ASource|GeneCards
96596_atNDRG1 /// NDRLN-myc downstream regulated gene 1 /// N-myc downstream regulated-likeSource|GeneCards
104280_atSNCGsynuclein, gammaSource|GeneCards
100548_atPEA15phosphoprotein enriched in astrocytes 15Source|GeneCards
101965_atRNF13ring finger protein 13Source|GeneCards
161611_f_atEMID1EMI domain containing 1Source|GeneCards
94916_atCYP51cytochrome P450, family 51Source|GeneCards
96269_atIDI1isopentenyl-diphosphate delta isomeraseSource|GeneCards
97518_atFDFT1farnesyl diphosphate farnesyl transferase 1Source|GeneCards
94881_atCDKN1Acyclin-dependent kinase inhibitor 1A (P21)Source|GeneCards
94545_atRTN1reticulon 1Source|GeneCards
160233_atAK3adenylate kinase 3Source|GeneCards
93771_atGJB1gap junction membrane channel protein beta 1Source|GeneCards
93985_atTIPARPTCDD-inducible poly(ADP-ribose) polymeraseSource|GeneCards
93975_at1300002F13RIKRIKEN cDNA 1300002F13 geneSource|GeneCards
161036_atSLC6A15solute carrier family 6 (neurotransmitter transporter), member 15Source|GeneCards
103243_atEMP2epithelial membrane protein 2Source|GeneCards
92507_atUTRNutrophinSource|GeneCards
104137_atABCA2ATP-binding cassette, sub-family A (ABC1), member 2Source|GeneCards
95502_atSIRT2sirtuin 2 (silent mating type information regulation 2, homolog) 2 (S. cerevisiae)Source|GeneCards
160388_atSC4MOLsterol-C4-methyl oxidase-likeSource|GeneCards


[an error occurred while processing this directive]