Publications

Key Publications

    Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response. Mackenzie KJ, Carroll P, Lettice L, Tarnauskaitė Ž, Reddy K, Dix F, Revuelta A, Abbondati E, Rigby RE, Rabe B, Kilanowski F, Grimes G, Fluteau A, Devenney PS, Hill RE, Reijns MA, Jackson AP* (2016) EMBO Journal 48(1):36-43 PubMed Abstract

    TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS* & Jackson AP* (2015) Nat Genet 48(1):36-43 PubMed Abstract

    Lagging strand replication shapes the mutational landscape of the genome. Reijns MA, Kemp H, Ding J, Marion de Procé S, Jackson AP* & Taylor MS* (2015) Nature 518:502-6 PubMed Abstract

    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A,…, Nürnberg P* & Jackson AP* (2014) Nat Genet 46(12):1283-92 PubMed Abstract

    RNA:DNA hybrids are a novel molecular pattern sensed by TLR9. Rigby RE, Webb LM, Mackenzie KJ, Li Y, Leitch A, Reijns MA, Lundie RJ, Revuelta A, Davidson DJ, Diebold S, Modis Y, Macdonald AS* & Jackson AP* (2014) EMBO Journal 33(6):542-58 PubMed Abstract

    Cerebral organoids model human brain development and microcephaly. Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME, Homfray T, Penninger JM, Jackson AP & Knoblich JA (2013) Nature 501:373-9   PubMed Abstract

    Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair. Ghodgaonkar MM, Lazzaro F, Olivera-Pimentel M, Artola-Borán M, Cejka P, Reijns MA, Jackson AP, Plevani P, Muzi-Falconi M & Jiricny J (2013) Mol Cell 50(3):323-32   PubMed Abstract

    Enzymatic removal of ribonucleotides from DNA is essential for Mammalian genome integrity and development. 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* (2012) Cell 149:1008-1022   PubMed Abstract

    Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP*, O’Driscoll M* & Jeggo PA (2011) Nat Genet 43(4):350-5   PubMed Abstract

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Bicknell LS, Bongers EM*, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M & Jackson AP* (2011) Nat Genet 43(4):356-9   PubMed Abstract

    Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP* & O’Driscoll M (2008) Nat Genet 40(2):232-236   PubMed Abstract

    Microcephalin coordinates mitosis in the syncytial Drosophila embryo. Brunk K, Vernay B, Griffith E, Reynolds NL, Strutt D, Ingham PW & Jackson AP* (2007) Journal of Cell Science 120:3578-3588   PubMed Abstract

    Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Alderton GK, Galbiati L, Griffith E, Surinya KH, Neitzel H, Jackson AP, Jeggo PA & O’Driscoll M (2006) Nat Cell Biol 8(7):725-733   PubMed Abstract

    Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE & Lindahl T (2006) Nat Genet 38(8):917-920   PubMed Abstract

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

 

Review articles

    Ribonuclease H2 in Health and Disease. Reijns MA & Jackson AP (2014) Biochem Soc Trans 42(4):717-25 PubMed Abstract

    Replication Proteins and Human Disease. Jackson AP, Laskey RA & Coleman N (2014) Cold Spring Harb Perspect Biol   PubMed Abstract

    Mechanisms and pathways of growth failure in primordial dwarfism. Klingseisen A & Jackson AP (2011) Genes Dev 25:2011-2024   PubMed Abstract

    Nucleic acid-mediated inflammatory diseases. Rigby RE, Leitch A & Jackson AP (2008). Bioessays 30:833-842   PubMed Abstract