An atlas of active enhancers across human cell types and tissues
- R. Andersson, C. Gebhard, A. Sandelin
- 26 March 2014
It is shown that enhancers share properties with CpG-poor messenger RNA promoters but produce bidirectional, exosome-sensitive, relatively short unspliced RNAs, the generation of which is strongly related to enhancer activity.
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk–associated variants
- L. Pasquali, Kyle J. Gaulton, J. Ferrer
- Biology, MedicineNature Genetics
- 26 December 2013
This work mapped and examined the function of human islet cis-regulatory networks and identifies genomic sequences that are targeted by islet transcription factors to drive islet-specific gene activity and shows that most such sequences reside in clusters of enhancers that form physical three-dimensional chromatin domains.
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
Observations suggest that DIS3L2 has a critical role in RNA metabolism and is essential for the regulation of cell growth and division.
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
- A. Cullinane, A. Straatman-Iwanowska, P. Gissen
- Medicine, BiologyNature Genetics
- 1 April 2010
It is shown that VIPAR forms a functional complex with VPS33B that interacts with RAB11A that has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney.
Prepatterning of developmental gene expression by modified histones before zygotic genome activation.
- L. Lindeman, I. S. Andersen, P. Collas
- BiologyDevelopmental Cell
- 13 December 2011
Sonic hedgehog, secreted by amacrine cells, acts as a short-range signal to direct differentiation and lamination in the zebrafish retina
- Alena Shkumatava, Sabine Fischer, F. Müller, U. Strahle, C. Neumann
- 15 August 2004
It is demonstrated that differentiation of cell types found in the inner and outer nuclear layers, as well as lamination of the retina, depends on shh, and it is shown that Shh directs these events as a short-range signal within the neural retina.
Two independent transcription initiation codes overlap on vertebrate core promoters
- Vanja Haberle, Nan Li, B. Lenhard
- 6 January 2014
It is shown that the transition from the maternal to zygotic transcriptome is characterized by a switch between two fundamentally different modes of defining transcription initiation, which drive the dynamic change of TSS usage and promoter shape.
Direct action of the nodal-related signal cyclops in induction of sonic hedgehog in the ventral midline of the CNS.
- F. Müller, S. Albert, P. Blader, N. Fischer, M. Hallonet, U. Strähle
- 15 September 2000
It is shown that Cyc signalling can act directly on shh expression in neural tissue, implying that the Nodal related signal Cyc induces shhexpression in the ventral neural tube.
Intronic enhancers control expression of zebrafish sonic hedgehog in floor plate and notochord.
- F. Müller, B. Chang, S. Albert, N. Fischer, L. Tora, U. Strähle
- 15 May 1999
Functional analysis in the zebrafish embryo revealed that the intronic enhancers have a complex organisation, and a T-box transcription factor-binding site was found in a functionally important region that forms specific complexes with protein extracts from wild-type but not from notochord-deficient mutant embryos.