Article
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.
Science (New York, N.Y.) - 26 May 2006
De Gobbi Marco, Viprakasit Vip, Hughes Jim R, Fisher Chris, Buckle Veronica J, Ayyub Helena, Gibbons Richard J, Vernimmen Douglas, Yoshinaga Yuko, de Jong Pieter, Cheng Jan-Fang, Rubin Edward M, Wood William G, Bowden Don, Higgs Douglas R
Abstract excerpt
We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder alpha thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of...
Topics
- Binding Sites
- Cells, Cultured
- Chromatin Immunoprecipitation
- Chromosomes, Human, Pair 16
- Erythroblasts
- GATA1 Transcription Factor
- Gene Expression
- Gene Expression Profiling
- Globins