title: Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.
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.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. david.fitzpatrick@hgu.mrc.ac.uk
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
mesh_terms: D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000235:genetics* / Q000378:metabolism; D018628:Gene Dosage; D005786:Gene Expression Regulation; D006801:Humans; D014158:Transcription, Genetic; D014314:Trisomy