Gene Regulatory Sequences and Human Disease

  title={Gene Regulatory Sequences and Human Disease},
  author={Nadav Ahituv},
  booktitle={Springer New York},
  • N. Ahituv
  • Published in Springer New York 2012
  • Biology
Species-specific sensitivity to TGFβ signaling and changes to the Mmp13 promoter underlie avian jaw development and evolution
Differences in differential regulation of TGFβ signaling and Mmp13 promoter structure underlie avian jaw development and evolution are uncovered. Expand
Decoding enhancers using massively parallel reporter assays.
Massively parallel reporter assays (MPRAs) are described and how they are being used to obtain an increased understanding of enhancer regulatory code and grammar are focused on. Expand
Recent advances in functional assays of transcriptional enhancers.
In this special edition of Genomics, we present reviews of the current state of the field in identifying and functionally understanding transcriptional enhancers in cells and developing tissues.Expand
Uncovering drug-responsive regulatory elements.
How sequencing technologies are improving the ability to identify drug response-associated regulatory elements genome-wide and to annotate nucleotide variants within them and specific examples of how nucleotide changes in these elements can affect drug response are highlighted. Expand
Integrating Diverse Datasets Improves Developmental Enhancer Prediction
The integrative method improves the identification of enhancers over approaches that consider a single type of data, such as sequence motifs, evolutionary conservation, or the binding of enhancer-associated proteins, and is comprehensively evaluated. Expand
Classification of topological domains based on gene expression and regulation.
Combined, the results provide a catalog of shared and tissue-specific topological domains and suggest that gene expression and regulation could have a role in shaping them. Expand
Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
These findings suggest that chromosomal abnormalities that disrupt the function of these tissue-specific enhancers could be the cause of SHFM1 and its associated phenotypes, and highlight specific enhancers in which mutations could lead to non-syndromic hearing loss, craniofacial defects or limb malformations. Expand