Article
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
American journal of human genetics - 1 Aug 2007
Prandini Paola, Deutsch Samuel, Lyle Robert, Gagnebin Maryline, Delucinge Vivier Celine, Delorenzi Mauro, Gehrig Corinne, Descombes Patrick, Sherman Stephanie, Dagna Bricarelli Franca, Baldo Chiara, Novelli Antonio, Dallapiccola Bruno, Antonarakis Stylianos E
Abstract excerpt
Down syndrome (DS) is characterized by extensive phenotypic variability, with most traits occurring in only a fraction of affected individuals. Substantial gene-expression variation is present among unaffected individuals, and this variation has a strong genetic component. Since DS is caused by genomic-dosage imbalance, we hypothesize that gene-expression variation of human chromosome 21 (HSA21) genes in...
Topics
- Aneuploidy
- Cell Line
- Cell Transformation, Viral
- Chromosomes, Human, Pair 21
- Down Syndrome
- Fibroblasts
- Gene Dosage
- Gene Expression
- Gene Expression Profiling