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Uncovers maternally inherited copy-number gains in GNAS in familial pseudohypoparathyroidism type 1b, suggesting disrupted methylation via altered cis-regulators.
Our results indicate that maternally derived copy-number gains in the GNAS region mediated by nonhomologous end-joining and/or by break-induced replication can underlie autosomal dominant PHP-1b. These rearrangements likely affect methylation of exon A/B-DMR by disconnecting or disrupting its cis-acting regulator(s). This study provides a novel example of human disorders resulting from functional disturbance in the cis-regulatory machinery of DNA methylation.
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Nakamura et al. (2016) studied this question.
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