Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

@article{Kondo2000WholegenomeMS,
  title={Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.},
  author={T. Kondo and M. Bobek and R. Kuick and B. Lamb and X. Zhu and A. Narayan and D. Bourc’his and E. Vi{\'e}gas-P{\'e}quignot and M. Ehrlich and S. Hanash},
  journal={Human molecular genetics},
  year={2000},
  volume={9 4},
  pages={
          597-604
        }
}
The ICF (immunodeficiency, centromeric instability and facial abnormalities) syndrome is a rare recessive disease characterized by immunodeficiency, extraordinary instability of certain heterochromatin regions and mutations in the gene encoding DNA methyltransferase 3B. In this syndrome, chromosomes 1 and 16 are demethylated in their centromere-adjacent (juxtacentromeric) heterochromatin, the same regions that are highly unstable in mitogen-treated ICF lymphocytes and B cell lines. We… Expand
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