Dirk A Kleinjan

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. doi request reprint Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease
    Dirk Jan Kleinjan
    Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, EH4 2XU, UK
    Brief Funct Genomic Proteomic 8:317-32. 2009
  2. ncbi request reprint Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Dev Biol 265:462-77. 2004
  3. pmc Long-range downstream enhancers are essential for Pax6 expression
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Dev Biol 299:563-81. 2006
  4. pmc Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia
    Shipra Bhatia
    MRC Human Genetics Unit at the MRC IGMM at the University of Edinburgh, Edinburgh EH4 2XU, UK
    Am J Hum Genet 93:1126-34. 2013
  5. pmc Discovery and assessment of conserved Pax6 target genes and enhancers
    Pedro Coutinho
    Medical Research Council MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Genome Res 21:1349-59. 2011
  6. pmc DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region
    David J McBride
    Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
    PLoS ONE 6:e28616. 2011
  7. pmc Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization
    Martine Manuel
    Genes and Development Group, Centres for Integrative Physiology and Neuroscience Research, Hugh Robson Building, George Square, University of Edinburgh, Edinburgh, UK
    Development 134:545-55. 2007
  8. pmc Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence
    Dirk A Kleinjan
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    PLoS Genet 4:e29. 2008
  9. ncbi request reprint Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Mamm Genome 13:102-7. 2002
  10. ncbi request reprint New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
    Caroline Griffin
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Mech Dev 112:89-100. 2002

Collaborators

Detail Information

Publications16

  1. doi request reprint Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease
    Dirk Jan Kleinjan
    Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, EH4 2XU, UK
    Brief Funct Genomic Proteomic 8:317-32. 2009
    ..Here, we review these various cis-ruption mechanisms and discuss how their studies have contributed to our understanding of long- range gene regulation...
  2. ncbi request reprint Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Dev Biol 265:462-77. 2004
    ..Functional analysis of evolutionary conserved sequences pinpoints novel cis-acting elements that govern the regulation of the complex spatio-temporal and quantitative expression of Pax6...
  3. pmc Long-range downstream enhancers are essential for Pax6 expression
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Dev Biol 299:563-81. 2006
    ..Finally, direct comparison of a single-copy line with the floxed DRR before and after Cre-mediated deletion demonstrates unequivocally the essential role of these long-range control elements for PAX6 expression...
  4. pmc Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia
    Shipra Bhatia
    MRC Human Genetics Unit at the MRC IGMM at the University of Edinburgh, Edinburgh EH4 2XU, UK
    Am J Hum Genet 93:1126-34. 2013
    ..These findings reveal a distinct regulatory mechanism for genetic disease by disruption of an autoregulatory feedback loop critical for maintenance of gene expression through development. ..
  5. pmc Discovery and assessment of conserved Pax6 target genes and enhancers
    Pedro Coutinho
    Medical Research Council MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Genome Res 21:1349-59. 2011
    ..We have identified several novel direct targets, including some putative disease genes, among them Foxp2; these will allow further dissection of Pax6 function in development and disease...
  6. pmc DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region
    David J McBride
    Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
    PLoS ONE 6:e28616. 2011
    ....
  7. pmc Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization
    Martine Manuel
    Genes and Development Group, Centres for Integrative Physiology and Neuroscience Research, Hugh Robson Building, George Square, University of Edinburgh, Edinburgh, UK
    Development 134:545-55. 2007
    ..These findings indicate that Pax6 levels are stabilized by autoregulation, that the proliferation of cortical progenitors is sensitive to altered Pax6 levels and that cortical arealization is not...
  8. pmc Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence
    Dirk A Kleinjan
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    PLoS Genet 4:e29. 2008
    ....
  9. ncbi request reprint Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Mamm Genome 13:102-7. 2002
    ..The possible role of PAXNEB in aniridia was assessed. Using a transgenic mouse model, we show that the aniridia phenotype of the chromosomal rearrangement cases is not due to the heterozygous loss of PAXNEB function...
  10. ncbi request reprint New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
    Caroline Griffin
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Mech Dev 112:89-100. 2002
    ....
  11. doi request reprint Long-range gene control and genetic disease
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Adv Genet 61:339-88. 2008
    ....
  12. pmc Long-range control of gene expression: emerging mechanisms and disruption in disease
    Dirk A Kleinjan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, United Kingdom
    Am J Hum Genet 76:8-32. 2005
    ..Disruption of these finely tuned mechanisms can cause disease. Some regulatory element mutations will be associated with phenotypes distinct from any identified for coding-region mutations...
  13. ncbi request reprint Rounding up active cis-elements in the triple C corral: combining conservation, cleavage and conformation capture for the analysis of regulatory gene domains
    David J McBride
    Cell and Molecular Genetics Section, MRC Human Genetics Unit, Edinburgh, EH4 2XU, UK
    Brief Funct Genomic Proteomic 3:267-79. 2004
    ..Combined with comparative genomics and traditional DNase I hypersensitive site mapping, these methods form a powerful approach for the study of the mechanisms of long-range transcriptional regulation...
  14. ncbi request reprint Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
    Jacqueline K Rainger
    MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
    Hum Mol Genet 23:2569-79. 2014
    ..This expression could be eliminated by mutating the SOX9-binding site of CRE2. These observations suggest that SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw. ..
  15. ncbi request reprint Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences
    Shipra Bhatia
    MRC Human Genetics Unit at the MRC IGMM at the University of Edinburgh, Edinburgh, EH4 2XU, UK
    Hum Genet 133:815-45. 2014
    ..Integration of these principles with the emerging wealth of genome-wide data will provide enhanced insight into the workings of our regulatory genome. ..
  16. pmc Mosaic analysis of stem cell function and wound healing in the mouse corneal epithelium
    Richard L Mort
    Division of Reproductive and Developmental Sciences, University of Edinburgh, Edinburgh, UK
    BMC Dev Biol 9:4. 2009
    ..The present study investigates cell streaming during corneal maintenance and repair and changes in LSC function with age...