Newcastle University

Introduction

I studied at the University of Freiburg, Germany and received a Diploma in Biology (equivalent to a BSc) in 1997. With a background in human genetics research, I became interested in developing mouse models for human diseases. During my PhD studies at the Helmholtz Centre for Environmental Health in Munich, I generated and characterised a mouse model for the skeletal malformation syndrome campomelic dysplasia. From 2001 to 2007, I worked as a research associate in the laboratory of Dr. Heiko Peters at the Institute of Human Genetics in Newcastle where I focused on craniofacial and tooth development in mice. In 2007, I was awarded a University Research Fellowship to develop a research theme into genetic mechanisms of oral epithelial differentiation and disease. In 2010, I was appointed Lecturer in Oral Biology at the School of Dental Sciences.

Qualifications

1997  Diploma in Biology (University of Freiburg, Germany)
2004  PhD in Genetics (University of Freiburg, Germany)

Previous positions

2001-2007  Research Associate, Institute of Human Genetics, Newcastle University
2007-2009  University Research Fellow, Institute of Human Genetics, Newcastle University

Memberships

Centre for Oral Health Research
Institute of Genetic Medicine

Honours and Awards

2005  Mammalian Genome Prize, Mammalian Genetics and Development Workshop, London
2008  Poster Prize, Gordon Research Conference “Craniofacial Morphogenesis and Tissue Regeneration”, Lucca, Italy 

Research Interests

Craniofacial and tooth development
Taste and filiform papilla development
Cell differentiation of the oral and tongue epithelium
Genetic mechanisms of oral disease and cancer 

Current Research

The epidermis of the skin and the epithelia lining the tongue and oral cavity are classified as stratified squamous epithelia and develop from a common embryological origin, the ectoderm. However, their individual characteristics and functions are substantially different suggesting that different genetic pathways regulate this regional specification. For example, the epidermis contains hair whereas filiform and taste papillae develop on the dorsal surface of the tongue. These ‘mini organs’ are comprehensively termed ectodermal appendages and their formation is regulated by reciprocal molecular interactions between epithelial and mesenchymal cells. In contrast to the intensive research efforts to understand skin development and disease, very little is known about the molecular mechanisms that control epithelial cell differentiation of the tongue and oral mucosa. As a consequence, the genetic causes or risk factors for many oral diseases have not yet been identified.
My research focuses on the identification of genes and the analysis of their interactions and functions during development and differentiation of the tongue and oral epithelium. We compare normal and abnormal formation of oral tissues in mice and humans using histology, molecular biology and imaging techniques. This work will lead to a better understanding of the causes of oral diseases and could eventually be used to develop novel or refined diagnostic and therapeutic procedures. 

Collaborations

Dr. Heiko Peters, Institute of Genetic Medicine
Dr. Julia Reichelt, Institute of Cellular Medicine
Dr. Max Robinson, School of Dental Sciences

Other Expertise

I have more than 10 years of experience in mouse genetics and the generation and analysis of disease models. In my laboratory, we use a wide range of techniques such as standard molecular biology techniques, quantitative real-time PCR, DNA microarrays, histology, RNA in situ hybridisation, immunohistochemical staining; microscopy and image analysis, (embryonic stem) cell culture, tissue micro-dissection and organ culture.

Postgraduate Supervision

Co-Supervisor (with Dr. Heiko Peters) for one MRes student
Co-Supervisor (with Dr. Max Robinson) for one PhD student

Esteem Indicators

Editorial Board: Frontiers in Craniofacial Biology

Funding

University Research Fellowship
Newcastle Healthcare Charity 

Undergraduate Teaching

Stage 1 BDS  Introduction to Dentistry
Stage 2 BDS  Histology, Embryology and Differentiation
BSc undergraduate project supervisor 

Postgraduate Teaching

• Kist R, Watson M, Wang X, Cairns P, Miles C, Reid DJ, Peters H. Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. Human Molecular Genetics 2005, 14(23), 3605-3617.
• Kist R, Greally E, Peters H. Derivation of a mouse model for conditional inactivation of Pax9. Genesis 2007, 45(7), 460-464.
• Jonker L, Kist R, Aw A, Wappler I, Peters H. Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium. Mechanisms of Development 2004, 121(11), 1313-1322.
• Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, Aw A, Chen YP, Maas RL, Peters H. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Developmental Biology 2010, 340(2), 438-449.
• Airik R, Trowe MO, Foik A, Farin HF, Petry M, Schuster-Gossler K, Schweizer M, Scherer G, Kist R, Kispert A. Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme. Human Molecular Genetics 2010,19 24 4918-4929.
• Trowe MO, Shah S, Petry M, Airik R, Schuster-Gossler K, Kist R, Kispert A. Loss of Sox9 in the periotic mesenchyme affects mesenchymal expansion and differentiation, and epithelial morphogenesis during cochlea development in the mouse. Developmental Biology 2010, 342(1), 51-62.
• Aust JG, Gays F, Hussain F, Butcher GW, Kist R, Peters H, Brooks CG. Mice Lacking Ly49E Show Normal NK Cell Development and Provide Evidence for Probabilistic Expression of Ly49E in NK Cells and T Cells. Journal of Immunology 2011, 186(4), 2013-2023.
• Ehrmann I, Dalgliesh C, Tsaousi A, Paronetto MP, Heinrich B, Kist R, Cairns P, Li W, Mueller C, Jackson M, Peters H, Nayernia K, Saunders P, Mitchell M, Stamm S, Sette C, Elliott DJ. Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse. Human Molecular Genetics 2008, 17(18), 2803-2818.
• Hargus G, Kist R, Kramer J, Gerstel D, Neitz A, Scherer G, Rohwedel J. Loss of Sox9 function results in defective chondrocyte differentiation of mouse embryonic stem cells in vitro. International Journal of Developmental Biology 2008, 52(4), 323-332.
• Seymour PA, Freude KK, Tran MN, Mayes EE, Jensen J, Kist R, Scherer G, Sander M. SOX9 is required for maintenance of the pancreatic progenitor cell pool. Proceedings of the National Academy of Sciences of the United States of America 2007, 104(6), 1865-1870.
• Lincoln J, Kist R, Scherer G, Yutzey KE. Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development. Developmental Biology 2007, 305(1), 120-132.
• Bastide P, Darido C, Pannequin J, Kist R, Robine S, Marty-Double C, Bibeau F, Scherer G, Joubert D, Hollande F, Blache P, Jay P. Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium. Journal of Cell Biology 2007, 178(4), 635-648.
• Kist R, Watson M, Wang XM, Cairns P, Miles C, Reid D, Peters H. Generation of hypomorphic Pax9 mouse mutants as a model for oligodontia in humans. In: Genetics Research: 16th Mammalian Genetics and Development Workshop of the Genetics Society.2006,London, UK:Cambridge University Press
• Barrionuevo F, Bagheri-Fam S, Klattig J, Kist R, Taketo MM, Englert C, Scherer G. Homozygous inactivation of Sox9 causes complete XY sex reversal in mice. Biology of Reproduction 2006, 74(1), 195-201.
• Perl A-KT, Kist R, Shan Z, Scherer G, Whitsett JA. Normal lung development and function after Sox9 inactivation in the respiratory epithelium. Genesis: The Journal of Genetics and Development 2005, 41(1), 23-32.
• Kist R, Schrewe H, Balling R, Scherer G. Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. Genesis: The Journal of Genetics and Development 2002, 32(2), 121-123.
• Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. American Journal of Human Genetics 1999, 65(1), 111-124.
• Pusch C, Hustert E, Pfeifer D, Sudbeck P, Kist R, Roe B, Wang Z, Balling R, Blin N, Scherer G. The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Human Genetics 1998, 103(2), 115-123.