Journal
TRENDS IN GENETICS
Volume 21, Issue 5, Pages 249-253Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2005.02.012
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Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability. Primary gene-dosage effects have been confirmed by recent transcriptome analyses. The importance (or existence) of trans-acting effects on disomic genes remains, surprisingly, controversial. In this article, I propose a model of the main genetic mechanisms that are responsible for producing the transcriptional derangement associated with trisomy. This has implications for future study design.
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