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

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)249-53
Number of pages5
JournalTrends in Genetics
Volume21
Issue number5
DOIs
Publication statusPublished - 2005

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