Dr Andrew Jackson: Medical and Developmental Genetics

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Laboratory Publications


 

 

Laboratory Publications

  1. de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van BY, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM: Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
    Eur J Hum Genet 20:598-606, 2012.
    PubMed Abstract

  2. Reijns MA, Rabe B, Rigby RE, Mill P, Astell KR, Lettice LA, Boyle S, Leitch A, Keighren M, Kilanowski F, Devenney PS, Sexton D, Grimes G, Holt IJ, Hill RE, Taylor MS, Lawson KA, Dorin JR, Jackson AP: Enzymatic removal of ribonucleotides from DNA is essential for Mammalian genome integrity and development
    Cell 149:1008-1022, 2012.
    PubMed Abstract

  3. Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, Bicknell LS, Jackson AP, Chen J: Set protein associates with microcephalin/MCPH1 and regulates chromosome condensation. J Biol Chem 286(24): 21393-400 2011. PubMed Abstract

  4. Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK: Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 60:925-935, 2011.
    PubMed Abstract

  5. Jackson, A.P. Diversifying microtubules in brain development. Nat.Genet. 41(6):638-640, 2009 PubMed Abstract

  6. Miller, T.D.; Jackson, A.P.; Barresi, R.; Smart, C.M.; Eugenicos, M.; Summers, D.; Clegg, S.; Straub, V. and Stone, J. Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree.
    J Neurol Neurosurg Psychiatry 80(5):583-584, 2009 PubMed Abstract

  7. Peng, G.; Yim, E.K.; Dai, H.; Jackson, A.P.; Burgt, I.; Pan, M.R.; Hu, R.; Li, K. and Lin, S.Y. BRIT1/MCPH1 links chromatin remodelling to DNA damage response. Nat.Cell Biol 11(7):865-872, 2009
    PubMed Abstract

  8. Griffith, E.; Walker, S.; Martin, C.A.; Vagnarelli, P.; Stiff, T.; Vernay, B.; Al Sanna, N.; Saggar, A.; Hamel, B.; Earnshaw, W.C.; Jeggo, P.A.; Jackson, A.P. and O'Driscoll, M. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40(2):232-236, 2008 PubMed Abstract

  9. Rigby, R.E.; Leitch, A., and Jackson, A.P. Nucleic acid-mediated inflammatory diseases. BioEssays 30(9):833-842, 2008 PubMed Abstract

  10. Brunk, K.; Vernay, B.; Griffith, E.; Reynolds, N.L.; Strutt, D.; Ingham, P.W. and Jackson, A.P. Microcephalin coordinates mitosis in the syncytial Drosophila embryo. Journal of Cell Science 120:3578-3588, 2007 PubMed Abstract

  11. Rice, G.; Patrick, T.; Parmar, R.; Taylor, C.F.; Aeby, A.; Aicardi, J.; Artuch, R.; Montalto, S.A.; Bacino, C.A.; Barroso, B.; Baxter, P.; Benko, W.S.; Bergmann, C.; Bertini, E.; Biancheri, R.; Blair, E.M.; Blau, N.; Bonthron, D.T.; Briggs, T.; Brueton, L.A.; Brunner, H.G.; Burke, C.J.; Carr, I.M.; Carvalho, D.R.; Chandler, K.E.; Christen, H.J.; Corry, P.C.; Cowan, F.M.; Cox, H.; D'Arrigo, S.; Dean, J.; De Laet, C.; De Praeter, C.; Dery, C.; Ferrie, C.D.; Flintoff, K.; Frints, S.G.M.; Garcia-Cazorla, A.; Gener, B.; Goizet, C.; Goutieres, F.; Green, A.J.; Guet, A.; Hamel, B.C.J.; Hayward, B.E.; Heiberg, A.; Hennekam, R.C.; Husson, M.; Jackson, A.P.; et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics 81(4):713-725, 2007
    PubMed Abstract

  12. Alderton, G.K.; Galbiati, L.; Griffith, E.; Surinya, K.H.; Neitzel, H.; Jackson, A.P.; Jeggo, P.A. and O'Driscoll, M. Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nat Cell Biol 8(7):725-733, 2006 PubMed Abstract

  13. Ali, M.; Highet, L.J.; Lacombe, D.; Goizet, C.; King, M.D.; Tacke, U.; van der Knaap, M.S.; Lagae, L.; Rittey, C.; Brunner, H.G.; von Bokhoven, H.; Hamel, B.; Oade, Y.A.; Sanchis, A.; Desguerre, I.; Cau, D.; Mathieu, N.; Moutard, M.L.; Lebon, P.; Kumar, D.; Jackson, A.P., and Crow, Y.J. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. J Med Genet 43:444-450, 2006 PubMed Abstract

  14. Cox, J.; Jackson, A.P.  Bond, J. and Woods, C.G. What primary microcephaly can tell us about brain growth. Trends Mol Med 12(8):358-366, 2006 PubMed Abstract

  15. Crow, Y.J.; Hayward, B.E.; Parmar, R.; Robins, P.; Leitch, A.; Ali, M.; Black, D.N.; van Bokhoven, H.; Brunner, H.G.; Hamel, B.C.; Corry, P.C.; Cowan, F.M.; Frints, S.G.; Klepper, J.; Livingston, J.H.; Lynch, S.A.; Massey, R.F.; Meritet, J.F.; Michaud, J.L.; Ponsot, G.; Voit, T.; Lebon, P.; Bonthron, D.T.; Jackson, A.P.; Barnes, D.E. and Lindahl, T. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 38(8):917-920, 2006 PubMed Abstract

  16. Crow, Y.J.; Leitch, A.; Hayward, B.E.; Garner, A.; Parmar, R.; Griffith, E.; Ali, M.; Semple, C.; Aicardi, J.; Babul-Hirji, R.; Baumann, C.; Baxter, P.; Bertini, E.; Chandler, K.E.; Chitayat, D.; Cau, D.; Dery, C.; Fazzi, E.; Goizet, C.; King, M.D.; Klepper, J.; Lacombe, D.; Lanzi, G.; Lyall, H.; Martinez-Frias, M.L.; Mathieu, M.; McKeown, C.; Monier, A.; Oade, Y.; Quarrell, O.W.; Rittey, C.D.; Rogers, R.C.; Sanchis, A.; Stephenson, J.B.; Tacke, U.; Till, M.; Tolmie, J.L.; Tomlin, P.; Voit, T.; Weschke, B.; Woods, C.G.; Lebon, P.; Bonthron, D.T.; Ponting, C.P. and Jackson, A.P. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 38(8):910-916, 2006 PubMed Abstract

  17. O'Driscoll, M.; Jackson, A.P. and Jeggo, P.A. Microcephalin: a causal link between impaired damage response signalling and microcephaly. Cell Cycle. 5(20):2339-44, 2006 PubMed Abstract

  18. Kirby, D.; Jackson, A.P.; Karbani, G. and Crow, Y.J. Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.
    Clin Genet 67(5):448-449, 2005
    PubMed Abstract

  19. Ponting, C. and Jackson, A.P. Evolution of primary microcephaly genes and the enlargement of primate brains.
    Curr Opin Genet Dev     15(3):241-248, 2005
    PubMed Abstract

  20. Trimborn, M.; Richter, R.; Sternberg, N.; Gavvovidis, I.; Schindler, D.; Jackson, A.P.; Prott, E.C.; Sperling, K.; Gillessen-Kaesbach, G. and Neitzel, H. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat 26(5):496, 2005 PubMed Abstract

  21. Trimborn, M.; Bell, S.M.; Felix, C.; Rashid, Y.; Jafri, H.; Griffiths, P.D.; Neumann, L.M.; Krebs, A.; Reis, A.; Sperling, K.; Neitzel, H. and Jackson, A.P. Mutations in microcephalin cause aberrant regulation of chromosome condensation.
    Am J Hum Genet 75(2):261-266, 2004
    PubMed Abstract

  22. Crow, Y.J.; Black, D.N.; Ali, M.; Bond, J.; Jackson, A.P.; Lefson, M.; Michaud, J.; Roberts, E.; Stephenson, J.B.; Woods, C.G. and Lebon, P. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.
    J Med Genet 40(3):183-187, 2003
    PubMed Abstract

  23. Hatsell, S.J.; Stevens, H.; Jackson, A.P.; Kelsell, D.P. and Zvulunov, A. An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
    Br J Dermatol     149(1):174-180, 2003 PubMed Abstract

  24. Toomes, C.; Jackson, A.; Maguire, K.; Wood, J.; Gollin, S.; Ishwad, C.; Paterson, I.; Prime, S.; Parkinson, K.; Bell, S.; Woods, G.; Markham, A.; Oliver, R.; Woodward, R.; Sloan, P.; Dixon, M.; Read, A. and Thakker, N. The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.
    Genes Chromosomes Cancer 37(2):132-140, 2003
    PubMed Abstract

  25. Jackson, A.P.; Eastwood, H.; Bell, S.M.; Adu, J.; Toomes, C.; Carr, I.M.; Roberts, E.; Hampshire, D.J.; Crow, Y.J.; Mighell, A.J.; Karbani, G.; Jafri, H.; Rashid, Y.; Mueller, R.F.; Markham, A.F. and Woods, C.G. Identification of microcephalin, a protein implicated in determining the size of the human brain.
    Am J Hum Genet     71(1):136-142, 2002
    PubMed Abstract

  26. Curtis, A.R.; Fey, C.; Morris, C.M.; Bindoff, L.A.; Ince, P.G.; Chinnery, P.F.; Coulthard, A.; Jackson, M.J.; Jackson, A.P.; McHale, D.P.; Hay, D.; Barker, W.A.; Markham, A.F.; Bates, D.; Curtis, A. and Burn, J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
    Nat Genet     28(4):350-354, 2001
    PubMed Abstract

 

 

 

 

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Laboratory Publications

 

 

Most Significant Publications

*communicating author
  1. Bicknell, L.S.; Walker, S.; Klingseisen, A.; Stiff, T.; Leitch, A.; Kerzendorfer, C.; Martin, C.A.; Yeyati, P.; Al Sanna, N.; Bober, M.; Johnson, D.; Wise, C.; Jackson, A.P.; O'Driscoll, M. and Jeggo, P.A. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat.Genet 43(4):350-5, 2011
    PubMed Abstract
  2. Bicknell, L.S.; Bongers, E.M.; Leitch, A.; Brown, S.; Schoots, J.; Harley, M.E.; Aftimos, S.; Al Aama, J.Y.; Bober, M.; Brown, P.A.; van Bokhoven, H.; Dean, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; Hoefsloot, L.H.; Kau, N.; Knoers, N.V.; Mackenzie, J.; Opitz, J.M.; Sarda, P.; Ross, A.; Temple, I.K.; Toutain, A.; Wise, C.A.; Wright, M. and Jackson, A.P. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat.Genet 43(4):356-9, 2011 PubMed Abstract
  3. Reijns MA, Bubeck D, Gibson LC, Graham SC, Baillie GS, Jones EY, Jackson AP: The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease. J Biol Chem 286:10530-10539, 2011 PubMed abstract
  4. Bubeck, D.; Reijns, M.A.; Graham, S.C.; Astell, K.R.; Jones, E.Y. and Jackson, A.P. PCNA directs type 2 RNase H activity on DNA replication and repair substrates. Nucleic Acids Res 39(9):3652-66, 2011
  5. Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, N., Saggar, A., Hamel, B., Earnshaw, W.C., Jeggo, P.A., Jackson, A.P.* & O'Driscoll, M. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
    Nat Genet 40, 232-6 (2008).
    Here we identified Pericentrin as a human disease gene required for normal growth and brain size. For the first time this linked a key structural centrosomal protein to DNA damage response signaling. The finding that homozygous truncating mutations in this protein were viable and compatibile with essentially normal development was also biologically surprising as this protein had previously been said to be essential for cell division and ciliogenesis.
    Commentary in Science ‘Perspective’: Delaval, B. & Doxsey, S. Dwarfism, where pericentrin gains stature. Science 319, 732-3 (2008).

  6. Crow, Y.J., Leitch, A., Hayward, B.E., Garner, A., Parmar, R., Griffith, E., Ali, M., Semple, C., Aicardi, J., Babul-Hirji, R., Baumann, C., Baxter, P., Bertini, E., Chandler, K.E., Chitayat, D., Cau, D., Dery, C., Fazzi, E., Goizet, C., King, M.D., Klepper, J., Lacombe, D., Lanzi, G., Lyall, H., Martinez-Frias, M.L., Mathieu, M., McKeown, C., Monier, A., Oade, Y., Quarrell, O.W., Rittey, C.D., Rogers, R.C., Sanchis, A., Stephenson, J.B., Tacke, U., Till, M., Tolmie, J.L., Tomlin, P., Voit, T., Weschke, B., Woods, C.G., Lebon, P., Bonthron, D.T., Ponting, C.P. & Jackson, A.P.*
    Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.
    Nat.Genet. 38, 910-916 (2006).
    In this paper we defined a novel mammalian protein complex that degrades RNA-DNA hybrids and identify mutations in three components of this complex for the paediatric neurological disorder, Aicardi Goutières syndrome (AGS). AGS phenotypically resembles congenital viral infections of the brain (such as HIV/ CMV/ Rubella). This work therefore provided an unanticipated link between a viral infection phenotype and a basic cellular enzyme raising important questions as to the role of Ribonuclease H and RNA-DNA hybrids in innate immune response. Through this work, we were also able to go on and identify a fourth gene for AGS, TREX1. Commentary in Nature Genetics News and Views: Alarcon-Riquelme ME. Nucleic acid by-products and chronic inflammation. Nat Genet 2006;38:866–7.

  7. Crow, Y.J., Hayward, B.E., Parmar, R., Robins, P., Leitch, A., Ali, M., Black, D.N., van Bokhoven, H., Brunner, H.G., Hamel, B.C., Corry, P.C., Cowan, F.M., Frints, S.G., Klepper, J., Livingston, J.H., Lynch, S.A., Massey, R.F., Meritet, J.F., Michaud, J.L., Ponsot, G., Voit, T., Lebon, P., Bonthron, D.T., Jackson, A.P., Barnes, D.E. & Lindahl, T.
    Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat.Genet. 38, 917-920 (2006).
    This paper, published back to back with the above, confirmed the role for endogenous nucleases in initiation and maintenance of autoimmune response. The findings of these two papers led to further rapid advances in the field in the last 18 months, with direct links to the aetiology of common autoimmune disease, with the detection of heterozygous TREX1 mutations in SLE patients (Nat Genet 39,1065 ), as well as experimental evidence suggesting roles in degrading single stranded nucleic acids byproducts generated during replication (Cell 131, 873) and in suppression of endogenous retroviruses (Cell 134,587).