PMC:1440874 / 16089-17737 JSONTXT

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The observation that rDNA is hypomethylated in the absence of Atrx, even in ES cells, is consistent with the finding that hypomethylation of the human rDNA repeats is detectable from an early developmental stage in ATR-X patients. Other mouse repetitive sequence elements surveyed in ES cell DNA include the heterochromatic major satellite (assayed with MaeII) and minor satellite (assayed with HpaII) repeats, as well as interspersed retroviral repeats of the intracisternal A particle (IAP) type and the Line 1 and Sine B1 families (all assayed with HpaII). These repeats were found to be moderately (Line 1 and Sine B1) or highly (IAP, major satellite, minor satellite) methylated in wild-type ES cells, and this methylation was not detectably perturbed by the absence of Atrx (Figure S3 and unpublished data). 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