Genes and Molecular Mechanisms in Development
Kathryn S.E. Cheah, PhD
Kathryn S.E. Cheah, PhD, is Chair of Biochemistry since 1997 and Head of Department from 1997 to 2009. She was the Director for the LKS Faculty of Medicine Centre for Reproduction, Development and Growth from 2004 to 2009. Her university education was obtained in the UK, at University of London, and the University of Cambridge, where she was also a Brooks Scholar. She was a postdoctoral fellow in the University of Manchester and a Research Fellow at the Imperial Cancer Research Fund in London before joining the University of Hong Kong in 1983. Kathy Cheah has been an Honorary Professor, Peking Union Medical College, Beijing, China since 1997. In 2000 she was awarded the University of Hong Kong's Outstanding Researcher Award and also the Croucher Foundation Senior Fellowship.
- Contact
- Email: biochem@hku.hk
- Tel: (852) 2819 9240; (852) 2819 9233 (Lab)
- Office: L3-73, Laboratory Block, 21 Sassoon Road, Hong Kong
Research Description:
My major research foci are in the following areas:
- Understanding genes, their regulation and function with emphasis on development and in particular:
- pattern formation in the mouse embryo, chondrogenesis and development of the inner ear and heart
- genes encoding extracellular matrix molecules (e.g. collagens), transcription factors (e.g. SOX proteins) and signaling molecules (BMPs, hedgehogs)
- Bioinformatic approaches for the identification of regulatory sequences in the genome.
- The genetic and molecular basis of inherited and degenerative skeletal disorders.
- The identification of genetic modifiers of congenital heart malformations
- Genotype – phenotype relationships.
The research programme involves extensive use of functional genomics tools such as microarrays and bioinformatics and transgenic and knockout mice to study gene function and create phenocopies of human disease.
Funding for the programme is by external research grants from the Hong Kong Research Grants Council and the UGC Area of Excellence programme. Kathy collaborates extensively with many scientists and clinicians nationally, and internationally in UK, USA, Europe, Australia and Japan.
Current RGC-Funded Projects:
- Genetic manipulation and analyses of the regulation of chondrocyte hypertrophy
- Functional analysis of SM22beta by tissue-specific targeted deletion in mice
- Functional and genetic analyses of the role of type IIA procollagen in morphogenesis and as a regulator of BMP and TGFβ signaling
Director of Multidisciplinary Group Research
RGC Central Allocation Vote Group Project:
- Genomic approaches to uncover functionally relevant signalling pathways in craniofacial development
UGC-Funded Programme:
- Area of Excellence programme Developmental Genomics & Skeletal Research

Lab Group
Publications, Achievements, and Grants:
Selected Publications:
- Leung V.Y.L., Gao B., Leung K.K.H., Melhado I.,. Wynn S.L, Au T.Y.K., Dung N.W.F., Lau J.Y.B., Mak A.C.Y., Chan D., ¥Cheah K.S.E. (2011) Sox9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression. PLoS Genetics 7(11): e1002356.
- K.Y. Tsang, Chan D, ¥K.S.E. Cheah (2010) The developmental roles of the extracellular matrix: beyond structure to regulation. Cell Tissue Res. 339(1):93-110.
- K.Y. Tsang, D Chan, J.F. Bateman, ¥K.S.E. Cheah (2010) In vivo cellular adaptation to ER stress: survival strategies with double edged consequences. J Cell Science 123(Pt 13):2145-54.
- A.W.L. Leung, S.Y.Y. Wong, D. Chan, ¥P.P.L. Tam and ¥K.S.E. Cheah (2010) Loss of procollagen IIA from the anterior mesendoderm disrupts the development of mouse embryonic forebrain. Developmental Dynamics 239:2319-2329.
- C.E. Scott, S.L. Wynn, A. Sesay, C. Cruz, M. Cheung, M.G. Gaviro , S. Booth , B. Gao, K.S.E. Cheah, R. Lovell-Badge , J. Briscoe. (2010) SOX9, acting downstream of Sonic hedgehog signalling, induces and maintains neural stem cells. Nature Neuroscience 13(10):1181-9.
- A.C. Mak,. I.Y.Y Szeto, B. Fritzsch, ¥K.S.E. Cheah (2009) Differential and overlapping expression pattern of Sox2 and Sox9 in inner ear development. Gene Expression Patterns 9(6):444-53.
- I.Y.Y. Szeto, K.K.H. Leung, M.H. Sham, ¥K.S.E. Cheah (2009) Utility of Hoxb2 enhancer - mediated Cre activity for functional studies in the developing inner ear. Genesis 47(6):361-365.
- K. Y. Tsang*, D. Chan*, D. Cheslett, W. C. W. Chan, C. L. So, I. G. Melhado, T. W. Y. Chan, K.M. Kwan, E.B. Hunziker, Y. Yamada, J. F. Bateman, K. M. C. Cheung, ¥K.S. E. Cheah (2007). Surviving ER Stress Is Coupled to Altered Chondrocyte Differentiation and Function. PLoS Biology 5(3):e44. (* equal contribution)
- A.E. Kiernan*, A.L. Pelling*, K.K.H. Leung, A.S.P. Tang, D.M. Bell, C. Tease, R. Lovell-Badge, K.P. Steel and ¥K.S.E. Cheah (2005) Sox2 is required for sensory organ development in the mammalian inner ear. Nature 434 ,1031-5. (* equal contribution)
- R. Wilson, S. Freddi, D. Chan, K. Cheah, J.F. Bateman. (2005) Misfolding of collagen X chains harboring schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response. J. Biol. Chem. 280, 15544-52.
- S. Dong, K.K.H. Leung, A.L. Pelling, P.Y.T. Lee, A.S.P. Tang, H.H.Q. Heng, L.C. Tsui, C. Tease, G. Fisher, K.P. Steel & ¥K.S.E. Cheah (2002) Circling, deafness and yellow coat color displayed by chromosome 3 mouse mutants yellow submarine (Ysb) and light coat and circling (Lcc). Genomics 79, 777-784.
- L.M. Jakt, L. Cao, K.S.E. Cheah, and D.K. Smith (2001) Assessing Clusters and Motifs from Gene Expression Data, Genome Research 11, 112-123.
- K.K.H. Leung, L.J. Ng, K.K.Y. Ho, P.P.L. Tam, & ¥K.S.E. Cheah (1998) Different cis-regulatory DNA elements mediate developmental stage- and tissue-specific expression of the human COL2A1 gene in transgenic mice. J. Cell Biol. 141, 1291-1300.
- K.M. Kwan, M.K.M. Pang, S. Zhou, S.K. Cowan, R.Y.C. Kong, T. Pfordte, B.R. Olsen, D. Sillence, P.P.L. Tam, & ¥K.S.E. Cheah (1997) Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function. J. Cell Biol. 136, 459-471.
- D.M. Bell, K.K.H. Leung, S.C. Wheatley, L.J. Ng, S. Zhou, K.W. Ling, M.H. Sham, P. Koopman, P.P.L. Tam & ¥K.S.E. Cheah (1997). S0X9 directly regulates the type II collagen gene. Nature Genetics 16,174-178.
- L.J. Ng, S. Wheatley, A. McCormack, J. Conway-Campbell, J. Bowles, E. Wright, D.M. Bell, P.P.L. Tam, K.S.E. Cheah and P. Koopman (1997) SOX9 binds DNA, activates transcription and co-expresses with type II collagen during chondrogenesis in the mouse Developmental Biology 183, 108-121.
¥:Corresponding author; underlined KC lab members