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PROFESSOR ROBERT HILL

Medical and Developmental Genetics

Programme Leader / Director of Studies


Professor Robert Hill

Contact Details

E-mail address: bob.hill@hgu.mrc.ac.uk
Telephone: +44 (0)131 332 2471 (extension 3302)
Fax: +44 (0)131 467 8456
Address: Medical Research Council
Human Genetics Unit
Western General Hospital
Crewe Road
Edinburgh EH4 2XU
Research Programme: The Genetic Basis of Limb and Gut Congenital Malformations

 

 

Research Areas

The Genetic Basis of Limb and Gut Congenital Malformations

Birth defects occur as errors in human development and appear as alterations in body form in the foetus. Of the genetic factors involved, it is estimated that there are well over 1700 different inherited human disorders that alter embryogenesis; the majority of these cause multiple defects in the foetus. An understanding of the basis of these birth defects requires an investigation into the nature of the genes responsible.

Recent Publications

  • Anderson E, Peluso S, Lettice LA, Hill RE: Human limb abnormalities caused by disruption of hedgehog signaling Trends Genet 2012.
    PubMed Abstract
  • Douvaras P, Webb S, Whitaker DA, Dora N, Hill RE, Dorin JR, West JD: Rare corneal clones in mice suggest an age-related decrease of stem cell activity and support the limbal epithelial stem cell hypothesis
    Stem Cell Res 8:109-119, 2012.
    PubMed Abstract
  • Williamson I, Hill RE, Bickmore WA: Enhancers: from developmental genetics to the genetics of common human disease. Dev Cell 21(1):17-19, 2011. PubMed Abstract
  • Hornblad A, Eriksson AU, Sock E, Hill RE, Ahlgren U: Impaired spleen formation perturbs morphogenesis of the gastric lobe of the pancreas
    2. PLoS One 6(6):e21753, 2011. PubMed Abstract
  • Martinez-Estrada, O.M.; Lettice, L.A.; Essafi, A.; Guadix, J.A.; Slight, J.; Velecela, V.; Hall, E.; Reichmann, J.; Devenney, P.S.; Hohenstein, P.; Hosen, N.; Hill, R.E.; Munoz-Chapuli, R. and Hastie, N.D. Wt1 is required for cardiovascular progenitor cell formation through transcriptional control of Snail and E-cadherin Nat.Genet. 42(1):89-93, 2010 PubMed Abstract
  • Burn, S.F. and Hill, R.E. Left-right asymmetry in gut development: what happens next?
    BioEssays     31(10):1026-1037, 2009 PubMed Abstract
  • Chanas, S.A.; Collinson, J.M.; Ramaesh, T.; Dora, N.; Kleinjan, D.A.; Hill, R.E. and West, J.D. Effects of elevated Pax6 expression and genetic background on mouse eye development. Invest Ophthalmol Vis.Sci. 50(9):4045-4059, 2009 PubMed Abstract
  • Burn, S.F.; Boot, M.J.; De Angelis, C.; Doohan, R.; Arques, C.G.; Torres, M. and Hill, R.E. The dynamics of spleen morphogenesis. Dev Biol 318(2):303-311, 2008 PubMed Abstract
  • Furniss, D.; Lettice, L. A.; Taylor, I. B.; Critchley, P. S.; Giele, H.; Hill, R. E. and Wilkie, A. O. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet 17(16):2417-2423, 2008 PubMed Abstract
  • Lettice, L.A.; Hill, A.E.; Devenney, P.S. and Hill, R.E. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet 17(7):978-985, 2008 PubMed Abstract
  • Hill, R.E. How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly. Dev Growth Differ 49(6):439-448, 2007 PubMed Abstract
  • Miller, K.A.; Barrow, J.; Collinson, J.M.; Davidson, S.; Lear, M.; Hill, R.E. and MacKenzie, A. A highly conserved Wnt-dependent TCF4 binding site within the proximal enhancer of the anti-myogenic Msx1 gene supports expression within Pax3-expressing limb bud muscle precursor cells. Dev Biol 311(2):665-678, 2007 PubMed Abstract

 

Book

  • van Heyningen, V. and Hill, R. E. (Eds.) Long-Range Control of Gene Expression, Advances in Genetics Vol. 61, 2008,