Review Article

Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research

Table 1

Known targets of MeCP2.

Gene targetFunctionCell/tissue type studiedDirect association with MeCP2 (cell line used for ChIP)Reference

PCDHB1Cell adhesionOral cancer cell lines (ZA, KOSC2, HSC5, NA)Yes (SH-SY5Y)
PCDH7Cell adhesionYes (SH-SY5Y) [68]
APBP3Intracellular signal transductionYes (SH-SY5Y)

CLUExtracellular molecular chaperoneNo (SH-SY5Y)
CRMP1Component of semaphoring signal transduction pathwayYes (SH-SY5Y)
DNMIVesicular trafficking, production of microtubule bundles, hydrolyzes GTPYes (SH-SY5Y) [69]
GNBIIntegrates signals between receptor and effector proteinsRTT patient brain (frontal cortex)Yes (SH-SY5Y)
APLP1Enhancer of neuronal apoptosisNo (SH-SY5Y)
CO1Mitochondrial respiratory chainNo (SH-SY5Y)
GDI1Regulates GDP/GTP exchangeNo (SH-SY5Y)

BdnfNeuronal plasticity and survivalMouse E14 cortical culture Rat E18 cortical neuronsYes (mouse E14 cortical culture Rat E18 cortical Neurons) [70, 71]

Fxyd1Ion transport regulator for Na, K-ATPaseRTT mice cerebellum RTT patient’s brain—superior frontal gyrusYes (adult mice brain, Mecp2 wt and Mecp2 null mouse; HEK293T cells) [72, 73]

Reln
Gtl2
Neuronal layer formation, cell-cell interactions
Growth suppressor
RTT mice cerebellumYes (adult mice brain) [72]

ID1
ID2
ID3
ID4
Regulation of neuronal differentiationSH-SY5YYes (SH-SY5Y)[74]

IGFBP3Modulation of IGF functionsRTT mice modelYes (HeLa cells; mice cortices) [75]

UBE3A
GABRB3
Ubiquitin ligase
GABA-A receptor
Brain cerebral samples of RTT, AS, and autism patientsNo (adult mouse cerebellum samples) [76]

Sst
Oprk1
Gamt
Gprin1
Mef2c
A2bp1
Regulation of cell migration
Signal transduction
Organ morphogenesis
Neurite development
Neuron development and differentiation
RNA splicing and mRNA processing
RTT mice models (Mecp2 null and Mecp2 Tg) and control mice; HypothalamusYes (RTT mice models (Mecp2 null and Mecp2 Tg) and control mice; Hypothalamus) [23]

xHairy2aNeuronal differentiationXenopus embryosYes (xenopus neurula stage embryos) [77]

Sgk1
Fkbp5
Cellular stress response
Hormone signalling
RTT mice model; brain samplesYes (mice brain tissue) [78]

Uqcrc1Mitochondrial respiratory chainRTT mice model; brain samplesYes (adult mice; whole brain) [79]

CrhStress responseRTT mice model; brain samplesYes (RTT mice brain samples) [80]

Dlx5Transcription factorNot doneYes (mouse brain) [81]