Dirk A Kleinjan

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

Detail Information

Publications13

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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. ncbi 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...
  5. ncbi 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
    ....
  6. ncbi 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
    ....
  7. ncbi 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. ncbi 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...
  9. ncbi 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
    ....
  10. ncbi 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
    ....
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...