흡연과me cp2유전자

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흡연과me cp2유전자

  1. 1. 흡연에 따른 MeCP2 유전자의메틸화와 후성유전학적 평가 제일병원 유전학연구실 김진우
  2. 2.  DNA methylation major modification of eukaryotic genomes plays an essential role in mammalian development CpG 결합 단백질 : MECP2, MBD1, MBD2, MBD3, and MBD4 : capable of binding specifically to methylated DNA : repress transcription from methylated gene promoters
  3. 3.  MeCP2 gene methyl CpG binding protein 2 (Rett syndrome) making its protein product, MECP2 located on Xq28 essential for the normal function of nerve cells important for mature nerve cells (high levels) turning off ("repressing" or "silencing") several other genes X-linked and subject to X inactivation dispensable in stem cells mutations - a progressive neurologic developmental disorder - mental retardation in females
  4. 4.  McCP2; Structure a family of methyl-CpG-binding domain (MBD) two functional domains: 1. a methyl-cytosine-binding domain (MBD) - composed of 85 amino acids - forms a wedge - attaches to the DNA strands 2. a transcriptional repression domain (TRD) - composed of 104 amino acids - recruit histone deacetylases (HDAC) carboxyl terminus: unusual, repetitive sequences
  5. 5.  MeCP2; Function found in all cells in the body, including the brain acting as a transcriptional repressor and activator as an activator: controversial In the brain, found in high concentrations in neurons maturation of the central nervous system (CNS) forming synaptic contacts
  6. 6.  MeCP2; Mechanism binds to forms of methylated CpG islands of promotors form a complex that turns off the gene not yet determined which genes are targeted by the MeCP2 protein probably important for the normal function of the central nervous system form a complex with histone deacetylases (HDAC) block transcription factors directly
  7. 7.  Objectives Phenotype MeCP2 gene - baby weight Hypo - methylation - baby length Hyper - methylation - head length ??? - gestation week Smoking - IUGR
  8. 8.  Study schedule Epigenetic variation DNA methylation - MeCP2 gene Phenotype - baby weight - baby length - Head length - Gestation week - IUGR Statistical analysis Smoking – baby’s phenotype Smoking – MeCP2 methylation MeCP2 methylation – baby’s phenotype
  9. 9. Thanks you!!!!

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