## Abstract Early‐onset torsion dystonia, an autosomal dominant disease associated with the DYT1 locus on 9q34, is the most frequent genetic form of dystonia. Recent work has revealed that the causative mutation in most cases is deletion of a glutamate residue from the carboxy terminal of torsinA,
Conserved regulatory element involved in the early onset of Hoxb6 gene expression
✍ Scribed by Diko Becker; Zhiling Jiang; Patrick Knödler; Amos S. Deinard; Roland Eid; Kenneth K. Kidd; Cooduvalli S. Shashikant; Frank H. Ruddle; Klaus Schughart
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 971 KB
- Volume
- 205
- Category
- Article
- ISSN
- 1058-8388
No coin nor oath required. For personal study only.
✦ Synopsis
We have identified a 338 bp DNA fragment, the lateral plate mesoderm (LPM) enhancer, that is highly conserved between mouse and human. The LPM enhancer directs gene expression into the posterior lateral plate mesoderm and hindgut endoderm at early stages of development. By reporter gene analysis in transgenic mice, we demonstrate that both mouse and human DNA sequences possess similar enhancer activity. The expression patterns of the transgene and Hoxb6 during early stages of mouse development are identical, suggesting that the LPM enhancer is involved in the initial activation of Hoxb6 gene expression in posterior regions of mammalian embryos. o 19% Wiley-Liss, Inc.
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