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Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.

FitzPatrick DR

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. david.fitzpatrick@hgu.mrc.ac.uk

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.

Published 26 April 2005 in Trends Genet, 21(5): 249-53.
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