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Article

Transcription dosage compensation does not occur in Down syndrome

9 Nov 2023

Abstract excerpt

BACKGROUND: The increase in DNA copy number in Down syndrome (DS; caused by trisomy 21) has led to the DNA dosage hypothesis, which posits that the level of gene expression is proportional to the gene's DNA copy number. Yet many reports have suggested that a proportion of chromosome 21 genes are dosage compensated back towards typical expression levels (1.0×). In contrast, other reports suggest that dosage...

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PMID: 37946204
DOI: 10.1186/s12915-023-01700-4

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