Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3

Nat Genet. 2005 Jun;37(6):645-51. doi: 10.1038/ng1563. Epub 2005 May 15.

Abstract

CpG islands are present in one-half of all human and mouse genes and typically overlap with promoters or exons. We developed a method for high-resolution analysis of the methylation status of CpG islands genome-wide, using arrays of BAC clones and the methylation-sensitive restriction enzyme NotI. Here we demonstrate the accuracy and specificity of the method. By computationally mapping all NotI sites, methylation events can be defined with single-nucleotide precision throughout the genome. We also demonstrate the unique expandability of the array method using a different methylation-sensitive restriction enzyme, BssHII. We identified and validated new CpG island loci that are methylated in a tissue-specific manner in normal human tissues. The methylation status of the CpG islands is associated with gene expression for several genes, including SHANK3, which encodes a structural protein in neuronal postsynaptic densities. Defects in SHANK3 seem to underlie human 22q13 deletion syndrome. Furthermore, these patterns for SHANK3 are conserved in mice and rats.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Carrier Proteins* / metabolism*
  • Chromosomes, Artificial, Bacterial*
  • Conserved Sequence
  • CpG Islands*
  • DNA Methylation*
  • Deoxyribonucleases, Type II Site-Specific
  • Humans
  • Mice
  • Nerve Tissue Proteins
  • Oligonucleotide Array Sequence Analysis
  • Organ Specificity
  • Regulatory Sequences, Nucleic Acid
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Carrier Proteins
  • Nerve Tissue Proteins
  • SHANK3 protein, human
  • endodeoxyribonuclease BSSHII
  • Deoxyribonucleases, Type II Site-Specific
  • GCGGCCGC-specific type II deoxyribonucleases