The Arkell Group - Maternal-Foetal Precision Health Laboratory

The Maternal-Foetal Precision Health Laboratory studies how genome and environmental variation impacts embryonic development. By studying the immediate post-implantation stage of embryonic development (called gastrulation) we seek to understand the genetic and embryological mechanisms by which abnormal gastrulation leads to congenital defects and the way maternal environment interacts with an embryo’s genetic make up to influence birth and life-long health outcomes. Ultimately our work aims to improve strategies for diagnosis, prognosis, treatment, and prevention for children born with a variety of diseases and disorders.

Professor Ruth Arkell began her career at the University of Sydney (BSc and Honours), before moving to the UK to undertake PhD and post-doctoral research and to establish a laboratory at the Mammalian Genetics Unit in Harwell, Oxfordshire, obtaining competitive Fellowships for all stages of her career. She was recruited to ANU’s Research School of Biological Sciences in 2006 and was awarded a Senior Viertel Medical Fellowship. In 2016 she moved within ANU to JCSMR. Throughout her career, she has pioneered the use of the mouse and stem cells as models for precision health; she has been involved in the sequencing of the mouse genome, mutagenesis screens to identify models of human disease and the development of whole-genome phenotyping tools, including transcription profiling and automated image analysis.

We collaborate with clinicians across Australia, America, Europe, and the United Kingdom to determine if patient-specific DNA variants are pathogenic, to determine the molecular and embryological mechanisms of disease, to identify new genes, RNAs and genetic elements that contribute to disease and to determine how maternal exposure to teratogens damages embryos and how maternal and foetal genomes alter the teratogenic response of the embryo. To achieve our aims, we use genetic models (mouse and human induced pluripotent stem cells in 2D and 3D culture), advanced phenotyping tools (single cell omics, 3D imaging, live imaging, and spatial omics) and computational biology.

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Selected publications

  • Barratt, K.S, Glanville-Jones, H.C. and Arkell, R.M. The Zic2 gene directs the formation and function of node cilia to control cardiac situs. Genesis 2014 Mar 2. doi: 10.1002/dvg.22767.
  • Arkell, R. M., Fossat, N., Tam, P. P. L. Wnt signalling in mouse gastrulation and anterior development: new players in the pathway and signal output.  2013  Curr Opin Genet Dev. 23(4):454-60.
  • Glanville-Jones, H.C., Woo, N., Arkell, R.M. Successful whole embryo culture with commercially available reagents. (2013)  Int J Dev Biol, 57(1):61-7.
  • Ahmed, J.N., Ali, R.G., Warr, N., Wilson, H.M., Bellchambers, H.M., Barratt, K.S., Thompson, A.J., and Arkell, R.M.  A Zic3 Transcript with a Premature Termination Codon Evades Nonsense Mediated Decay during Axis Formation.  (2013)  Dis Mod Mech. 6(3):755-67.
  • Houtmeyers, R., Souopgui, J., Tejpar, S., Arkell, R. The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis.  (2013)  Cell Mol Life Sci. 70(20):3791-811.
  • Caruana, G., Farlie, P.G., Hart, A.H., Bagheri-Fam, S., Wallace, M.J., Dobbie, M.S., Gordon, C.T., Miller, K.A., Whittle, B., Abud, H.E., Arkell, R.M., Cole, T.J., Harley, V.R., Smyth, I.M., Bertram, J.F. Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease.  (2013)  PLoS One 2013;8(3):e55429..
  • Watkins-Chow, D. E., Cooke, J. Pidsley, R. Edwards, A. Slotkin, R. Leeds, K. E. Mullen, R., Baxter, L. L., Campbell, T. G., Salzer, M. C., Biondini, L., Gibney, G., Phan Dinh Tuy, F., Chelly, J., Morris, H. D., Riegler, J., Lythgoe, M. F., Arkell, R. M., Loreni, F., Flint, J., Pavan, W. J., Keays, D. A. Mutation of the Diamond-Blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.  (2013)  PLoS Genet. 9(1):e1003094.
  • Thomsen, N., Ali, R. G., Ahmed, J. N., Arkell, R. M. High Resolution Melt Analysis (HRMA); a Viable Alternative to Agarose Gel Electrophoresis for Mouse Genotyping.  (2012)  PLoS ONE 7(9): e45252.
  • Ali, R. G., Bellchambers, H., Arkell, R. M. Zinc fingers of the cerebellum (Zic): transcription factors and co-factors.  (2012) Int J Biochem Cell Biol. 44(11):2065-2068.
  • Arkell, R. M., Tam, P.P.L. Initiating head development in mouse embryos: integrating signalling and transcriptional activity.  (2012)  Open Biol. 2(3):120030.
  • Fossat, N., Jones, V., Khoo, P.L., Bogani, D., Hardy, A., Steiner, K., Mukhopadhyay, M., Westphal, H., Nolan, P.M., Arkell, R., Tam, P.P. Stringent requirement of a proper level of canonical WNT signalling activity for head formation in mouse embryo.  (2011)  Development 138(4):667-76
  • Mackenzie, F.E., Romero, R., Williams, D., Gillingwater, T., Hilton, H., Dick, J., Riddoch-Contreras, J., Wong, F., Ireson, L., Powles-Glover, N., Riley, G., Underhill, P., Hough, T., Arkell, R., Greensmith, L., Ribchester, R.R., Blanco, G. Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.  (2009)  Hum Mol Genet. 18(19):3553-3566.
  • Warr, N., Powles-Glover, N., Chappell, A., Robson, J., Norris, D.,  Arkell, R.M. Zic2-associated holoprosencephaly is caused by a transient defect in the organiser region during gastrulation.  (2008)  Hum Mol Genet. 17(19):2986-96.
  • Ybot-Gonzalez, P., Gaston-Massuet, C., Girdler, G., Klingensmith, J., Arkell, R., Greene, N.D.E. and Copp, A.J. Neural plate morphogenesis during mouse neurulation is regulated by antagonism of Bmp signaling.  (2007)  Development 134(17):3203-11.
  • Bogani, D., Willoughby, C., Davies, J., Kaur, K., Mirza, G., Paudyal, A., Haines, H., McKeone, R., Cadman, M., Pieles, G., Schneider, J.E., Bhattacharya, S., Hardy, A., Nolan, P.M., Tripodis, N., Depew, M.J., Chandrasekara, R., Duncan, G., Sharpe, P.T., Greenfield, A., Denny, P., Brown, S.D.M., Ragoussis, J., Arkell, R. Dissecting the genetic complexity of human 6p deletion syndromes using a region-specific, phenotype-driven mouse screen.  (2005)  Proc Natl Acad Sci U S A 102(35):12477-12482.
  • Blewitt, M.E., Vickaryous, N.K., Hemley, S.J., Ashe, A., Bruxner, T.J., Preis, J.I., Arkell, R., Whitelaw, E.  An ENU screen for genes involved in variegation in the mouse.  (2005)  Proc Natl Acad Sci U S A 102(21):7629-34.
  • Brown, L., Paraso, M., Arkell, R., Brown, S.  In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.  (2005)  Hum. Mol. Genet. 14(3):411-20.
  • Bogani, D., Warr, N., Elms, P., Davies, J., Tymowska-Lalanne, Z., Goldsworthy, M., Cox, R.D., Keays, D.A., Flint, J., Wilson, V., Nolan, P., Arkell, R. New semidominant mutations that affect mouse development.  (2004)  Genesis 40(2):109-117.
  • Mallon, A-M., Wilming, L., Weekes, J., Gilbert, J.G.R., Ashurst, J., Peyrefitte, L., Matthews, L., Cadman, M., McKeone, R., Sellick, C., Arkell, R., Botcherby, M.R.M., Strivens, M.A., Campbell, R.D., Gregory, S., Denny, P., Hancock, J.M., Rogers, J., Brown, S.D.M.  Organization and evolution of a gene-rich region of the mouse genome: a 12.7 Mb region deleted in the Del(13)Svea36H mouse.  (2004)  Genome Research 14(10):1888-1901.
  • Elms, P., Scurry, A., Davies, J., Willoughby, C., Hacker, T., Bogani, D., Arkell, R.  Overlapping and distinct expression domains of Zic2 and Zic3 during mouse gastrulation.  (2004)  Gene Expr. Patterns 4(5):505-511.
  • Elms, P., Siggers, P., Napper, D., Greenfield, A., Arkell, R.  Zic2 is required for neural crest formation and hindbrain patterning during mouse development.  (2003)  Dev. Biol. 264:391-406.
  • Curtin, J.A., Quint, E., Tsipouri, V., Arkell, R.M., Cattanach, B., Copp, A.J., Henderson, D.J., Spurr, N., Stanier, P., Fisher, E.M., Nolan, P.M., Steel, K.P., Brown, S.D., Gray, I.C., Murdoch, J.N.  Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse.  (2003)  Curr. Biol. 13(13):1129-1133.
  • Murdoch, J.N., Henderson, D.J., Doudney, K., Gaston-Massuet, C., Phillips, H.M., Paternotte, C., Arkell, R., Stanier, P., Copp, A.J.  Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse.  (2003)  Hum. Mol. Genet. 12(2):87-98.
  • Arkell, R.M., Cadman, M., Marsland, T., Southwell, A., Thaung, C., Davies, J.R., Clay, T., Beechey, C., Evans, E.P., Strivens, M.A., Brown, S.D.M., Denny, P.  Genetic, physical and phenotypic characterisation of the Del(13)Svea36H mouse mutant.  (2001)  Mammalian Genome 12:687-694.
  • Episkopou, V., Swan, D., Timmons, P., Walsh, J., Andrew, R., Arkell, R.  Induction of the mammalian node requires Arkadia function in the extraembryonic lineages.  (2001)  Nature 410:825-30.
  • Nolan, P.M., Peters, J., Strivens, M., Rogers, D., Hagan, J., Spurr, N., Gray, I.C., Vizor, L., Brooker, D., Whitehill, E., Washbourne, R., Hough, T., Greenaway, S., Hewitt, M., Liu, X., McCormack, S., Pickford, K., Selley, R., Wells, C., Tymowska-Lalanne, Z., Roby, P., Glenister, P., Thornton, C., Thaung, C., Stevenson, J-A., Arkell, R., Mburu, P., Hardisty, R., Kiernan, A., Erven, A., Steel, K.P., Voegeling, S., Guenet, J-L., Nickols, C., Sadri, R., Naase, M., Isaacs, A., Davies, K., Browne, M., Fisher, E.M.C., Martin, J., Rastan, S., Brown, S.D.M., Hunter, J.  A systematic genome-wide phenotype-driven mutagenesis programme for gene function studies in the mouse.  (2000)  Nature Genetics 25(4):440-443.
  • Sheardown, S.A., Duthie, S.M., Johnston, C.M., Newall A.E., Formstone, E.J., Arkell, R.M., Nesterova, T.B., Alghisi, G.C., Rastan, S., Brockdorff, N.  Stabilization of Xist RNA mediates initiation of X chromosome inactivation.  (1997)  Cell 91(1):99-107.
  • Arkell, R., Beddington, R.S.P.  BMP-7 influences pattern and growth of the developing hindbrain of mouse embryos.  (1997)  Development 124:1-12.
  • Harrison, S.M., Dunwoodie, S.L., Arkell, R.M., Lehrach, H.,  Beddington, R.S.P.  Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo.  (1995)  Development 121:2479-2489.

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