Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development

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• 作者：Amir A Abbasi (1) (2)
  Zissis Paparidis (1)
  Sajid Malik (1) (3)
  Fiona Bangs (4)
  Ansgar Schmidt (5)
  Sabine Koch (5)
  Javier Lopez-Rios (6)
  Karl-Heinz Grzeschik (1)
  
• 刊名：BMC Developmental Biology
• 出版年：2010
• 出版时间：December 2010
• 年：2010
• 卷：10
• 期：1
• 全文大小：3095KB
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• 作者单位：Amir A Abbasi (1) (2)
  Zissis Paparidis (1)
  Sajid Malik (1) (3)
  Fiona Bangs (4)
  Ansgar Schmidt (5)
  Sabine Koch (5)
  Javier Lopez-Rios (6)
  Karl-Heinz Grzeschik (1)
  
  1. Department of Human Genetics, Philipps-Universit盲t Marburg, 35037, Marburg, Germany
  2. National Center for Bioinformatics, Faculty of Biological Sciences, Quaid-i-Azam University, 45320, Islamabad, Pakistan
  3. Department of Animal Sciences, Quaid-i-Azam University, 45320, Islamabad, Pakistan
  4. Biology and Biochemistry Department, University of Bath, BA2 7AY, Bath, UK
  5. Department of Pathology, Philipps-Universit盲t Marburg, 35033, Marburg, Germany
  6. DBM Center for Biomedicine, University of Basel Medical School, Basel, Switzerland
  

文摘

Background The zinc-finger transcription factor GLI3 is an important mediator of Sonic hedgehog signaling and crucial for patterning of many aspects of the vertebrate body plan. In vertebrates, the mechanism of SHH signal transduction and its action on target genes by means of activating or repressing forms of GLI3 have been studied most extensively during limb development and the specification of the central nervous system. From these studies it has emerged, that Gli3 expression must be subject to a tight spatiotemporal regulation. However, the genetic mechanisms and the cis-acting elements controlling the expression of Gli3 remained largely unknown. Results Here, we demonstrate in chicken and mouse transgenic embryos that human GLI3-intronic conserved non-coding sequence elements (CNEs) autonomously control individual aspects of Gli3 expression. Their combined action shows many aspects of a Gli3-specific pattern of transcriptional activity. In the mouse limb bud, different CNEs enhance Gli3-specific expression in evolutionary ancient stylopod and zeugopod versus modern skeletal structures of the autopod. Limb bud specificity is also found in chicken but had not been detected in zebrafish embryos. Three of these elements govern central nervous system specific gene expression during mouse embryogenesis, each targeting a subset of endogenous Gli3 transcription sites. Even though fish, birds, and mammals share an ancient repertoire of gene regulatory elements within Gli3, the functions of individual enhancers from this catalog have diverged significantly. During evolution, ancient broad-range regulatory elements within Gli3 attained higher specificity, critical for patterning of more specialized structures, by abolishing the potential for redundant expression control. Conclusion These results not only demonstrate the high level of complexity in the genetic mechanisms controlling Gli3 expression, but also reveal the evolutionary significance of cis-acting regulatory networks of early developmental regulators in vertebrates.