Overview
Background
Our work on human pigmentation genetics has allowed understanding of normal variation in this physical trait and the associated genotypic risk for skin cancer. The genes that determine an individual's skin phototype and the cellular mechanisms that result in the tanning response of melanocytes after UV-exposure of the skin are actively being investigated.
Assoc. Prof Rick Sturm is group leader in the Dermatology Research Centre within the Frazer Institue.
Availability
- Associate Professor Rick Sturm is:
- Available for supervision
- Media expert
Fields of research
Research interests
-
Skin, hair, eye colour and cancer � MC1R/OCA2, the genetic links
Pigmentary traits such as red hair and fair skin, moles, eye colour, lack of tanning ability and propensity to freckle have been identified as genetic risk factors for skin cancer when combined with the environmental risk factor of high ultraviolet exposure. The major areas of investigation are the role of the OCA2 gene in directing eye colour, and the role of human melanocortin-1 receptor (MC1R) gene variants in directing skin phototype and response to UV-induced ligand binding and receptor activation. The MC1R coding sequence is highly polymorphic in human populations and we have examined MC1R variant allele frequencies in the general community as well as a collection of adolescent dizygotic and monozygotic twins with defined pigmentation characteristics. Subscription required to access this paper Variant allele frequencies have also been determined in several case-control studies of sporadic melanoma, basal cell carcinoma and squamous cell carcinoma, and in familial melanoma kindreds collected within Australia. These studies have shown that three MC1R alleles � Arg151Cys, Arg160Trp and Asp294His � were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in CDKN2A mutation carriers. There is a significant MC1R variant allele heterozygote carrier effect on skin phototype and skin cancer risk, which indicates that these alleles do not behave in a strictly recessive manner.
-
Characterisation of melanoblast stem cell differentiation
The process of development and differentiation of the melanocytic cell lineage is being investigated using primary melanoblast and melanocyte cells cultured in vitro from human skin. This will provide information to allow the genes and processes involved in melanoma tumour formation and metastasis to be examined. These studies focus on the identification and molecular characterisation of the genes involved in melanocyte function.
-
Mechanisms of melanoma metastasis
Expression of the �3 integrin gene in melanoma in situ has been found to be the single most important marker of metastasis yet discovered. Experiments to investigate the effects of this expression has involved the use of Adenoviral gene transduction of the �3 integrin subunit into radial growth phase (RGP) melanoma cell lines and differential gene screening. A skin reconstruction model was used to assay the invasivness of RGP melanoma cells after ectopic �3 integrin expression and these studies have discovered induction of the anti-adhesive protein osteonectin is required for melanoma metastasis.
Works
Search Professor Rick Sturm’s works on UQ eSpace
2007
Journal Article
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles (vol 16, pg 2249, 2007)
Beaumont, Kimberley A., Shekar, Sri N., Newton, Richard A., James, Michael R., Stow, Jennifer L., Duffy, David L. and Sturm, Richard A. (2007). Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles (vol 16, pg 2249, 2007). Human Molecular Genetics, 16 (23), 2988-2988. doi: 10.1093/hmg/ddm268
2007
Journal Article
Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation
Eliason, M. J., Hansen, C. B., Hart, M., Porter-Gill, P., Wei Chen, Sturm, R. A., Bowen, G., Florell, S. R., Harris, R. M., Cannon-Albright, L. A., Swinyer, L. and Leachman, S. A. (2007). Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. Archives of Dermatology, 143 (11), 1409-1412. doi: 10.1001/archderm.143.11.1409
2007
Journal Article
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
Beaumont, Kimberley A., Shekar, Sri L., Newton, Richard A., James, Michael R., Stow, Jennifer L., Duffy, David L. and Sturm, Richard A. (2007). Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Human Molecular Genetics, 16 (18), 2249-2260. doi: 10.1093/hmg/ddm177
2007
Journal Article
MC1R expression in skin: is it confined to melanocytes? [Letter to the Editor]
Roberts, Don, Newton, Richard A. and Sturm, Richard A. (2007). MC1R expression in skin: is it confined to melanocytes? [Letter to the Editor]. Journal of Investigative Dermatology, 127 (10), 2472-2473. doi: 10.1038/sj.jid.5700881
2007
Journal Article
Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes
Newton, R. A., Cook, A., Roberts, D. W., Leonard, J. H. and Sturm, R. A. (2007). Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes. Journal of Investigative Dermatology, 127 (9), 2216-2227. doi: 10.1038/sj.jid.5700840
2007
Journal Article
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G. and Sturm, R. A. (2007). A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics, 80 (2), 241-252. doi: 10.1086/510885
2007
Journal Article
Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways
Newton, Richard A., Don Roberts, Leonard, J H and Sturm, Richard A. (2007). Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways. Peptides, 28 (12), 2387-2396. doi: 10.1016/j.peptides.2007.10.003
2006
Journal Article
Quantitative analysis of MC1R gene expression in human skin cell cultures
Roberts, D. W., Newton, R. A., Beaumont, K. A., Leonard, J. H. and Sturm, R. A. (2006). Quantitative analysis of MC1R gene expression in human skin cell cultures. Pigment Cell Research, 19 (1), 76-89. doi: 10.1111/j.1600-0749.2005.00286.x
2006
Journal Article
A golden age of human pigmentation genetics
Sturm, Richard A. (2006). A golden age of human pigmentation genetics. Trends In Genetics, 22 (9), 464-468. doi: 10.1016/j.tig.2006.06.010
2006
Book Chapter
Transcription Factors: POU
Sturm, R A (2006). Transcription Factors: POU. Encyclopedia of Respiratory Medicine. (pp. 269-274) edited by Geoffrey J. Laurent and Steven D Shapiro. London: Elsevier Ltd. doi: 10.1016/B0-12-370879-6/00389-6
2006
Conference Publication
Expression of BRN2, osteopontin and nestin in melanoma and nevi. New markers of tumor progression?
Maier, T., Mestel, D., Besch, R., Nagele, U., Sturm, R. A. and Berking, C. (2006). Expression of BRN2, osteopontin and nestin in melanoma and nevi. New markers of tumor progression?. 33rd Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF), Aachen, Germany, 23-25 March, 2007. Oxford: Blackwell Publishing. doi: 10.1111/j.1600-0625.2006.00403.x
2006
Journal Article
Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin
Wakamatsu, Kazumasa, Kavanagh, Renny, Kadekaro, Ana L., Terzieva, Silva, Sturm, Richard A., Leachman, Sancy, Abdel-Malek, Zalfa and Ito, Shosuke (2006). Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin. Pigment Cell Research, 19 (2), 154-162. doi: 10.1111/j.1600-0749.2006.00293.x
2006
Journal Article
A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA
Voisey, J., Gomez-Cabrera, M. D. C., Smit, D. J., Leonard, J. H., Sturm, R. A. and van Daal, A. (2006). A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA. Pigment Cell Research, 19 (3), 226-231. doi: 10.1111/j.1600-0749.2006.00301.x
2006
Book Chapter
BRN2 in melanocytic cell development, differentiation and transformation
Cook, Anthony L., Boyle, Glen M., Leonard, J. Helen, Parsons, Peter G. and Sturm, Richard A. (2006). BRN2 in melanocytic cell development, differentiation and transformation. From Melanocytes to Melanoma: The Progression to Malignancy. (pp. 149-168) edited by V. J. Hearing and A. P. L. Leong. New Jersey: Humana Press. doi: 10.1007/978-1-59259-994-3_8
2006
Book Chapter
Transcription factors | POU
Sturm, R. A. (2006). Transcription factors | POU. Encyclopedia of Respiratory Medicine: Volume 1-4. (pp. 269-274) edited by Geoffrey J. Laurent and Steven D. Shapiro. Cambridge, MA United States: Academic Press. doi: 10.1016/B0-12-370879-6/00389-6
2005
Journal Article
Osteopontin in melanocytic lesions - A first step towards invasion?
Sturm, RA (2005). Osteopontin in melanocytic lesions - A first step towards invasion?. Journal of Investigative Dermatology, 124 (5), xiv-XV. doi: 10.1111/j.0022-202X.2005.23741.x
2005
Journal Article
Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
Beaumont, K. A., Newton, R. A., Smit, D. J., Leonard, J. H., Stow, J. L. and Sturm, R. A. (2005). Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Human Molecular Genetics, 14 (15), 2145-2154. doi: 10.1093/hmg/ddi219
2005
Journal Article
Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells
Newton, R. A., Smit, S. E., Barnes, C. C., Pedley, J., Parsons, P. G. and Sturm, R. A. (2005). Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells. Peptides, 26 (10), 1818-1824. doi: 10.1016/j.peptides.2004.11.031
2005
Journal Article
Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro
Cook, A. L., Smith, A. G., Smit, D. J., Leonard, J. H. and Sturm, R. A. (2005). Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Experimental Cell Research, 308 (1), 222-235. doi: 10.1016/j.yexcr.2005.04.019
2004
Journal Article
Eye colour: portals into pigmentation genes and ancestry
Sturm, Richard A. and Frudakis, Tony N. (2004). Eye colour: portals into pigmentation genes and ancestry. Trends In Genetics, 20 (8), 327-332. doi: 10.1016/j.tig.2004.06.010
Funding
Past funding
Supervision
Availability
- Associate Professor Rick Sturm is:
- Available for supervision
Before you email them, read our advice on how to contact a supervisor.
Supervision history
Completed supervision
-
-
2009
Doctor Philosophy
The molecular mechanism of MC1R association with skin cancer risk phenotypes
Principal Advisor
Other advisors: Professor Jennifer Stow
-
2008
Doctor Philosophy
A Melanocyte-Keratinocyte Coculture Model to Study MC1R Dependent Pigmentation Responses
Principal Advisor
-
2006
Doctor Philosophy
MOLECULAR CHANGES DEFINING THE TRANSITION FROM RADIAL TO VERTICAL GROWTH PHASE IN MELANOMA
Principal Advisor
Other advisors: Professor Jennifer Stow
-
2004
Doctor Philosophy
MODELS OF HUMAN NEURAL CREST CELL DIFFERENTIATION IN VITRO
Principal Advisor
-
2020
Master Philosophy
Gene Polymorphisms Associated with Amelanotic/Hypopigmented and Nodular Melanoma
Associate Advisor
Other advisors: Professor Peter Soyer
-
2020
Master Philosophy
The role of SETDB1/2-mediated H3K9me3 in drug-tolerant cancer
Associate Advisor
Other advisors: Associate Professor Helmut Schaider
-
2020
Doctor Philosophy
Genotypic and phenotypic correlations in a cohort of patients with multiple primary melanoma
Associate Advisor
Other advisors: Professor Peter Soyer
-
2018
Master Philosophy
The correlation of skin colour, skin reflectance, freckling, MC1R, TYR, IRF-4 and TPCN2 genotypes with naevus pattern within a case-control study of melanoma
Associate Advisor
Other advisors: Associate Professor Helmut Schaider
-
2018
Master Philosophy
Dermoscopic and molecular correlation of melanocytic naevi
Associate Advisor
Other advisors: Dr Mitchell Stark, Professor Peter Soyer
-
2018
Doctor Philosophy
Phenotypes and Genotypes of Melanoma Patients
Associate Advisor
Other advisors: Professor Peter Soyer
-
2017
Doctor Philosophy
Investigating the role of the MITF-BRN2 expression axis in metastatic melanoma
Associate Advisor
-
2016
Doctor Philosophy
Investigating the role of NR4A genes in response to cellular stress
Associate Advisor
-
-
2014
Doctor Philosophy
Role of IRF6 in epithelial cell-mediated host defence and inflammation
Associate Advisor
Other advisors: Professor Matt Sweet
-
2004
Doctor Philosophy
STRUCTURE-FUNCTION ANALYSIS OF NUCLEAR HORMONE RECEPTORS NUR77 AND NOR I: EVIDENCE FOR A ROLE IN MUSCLE
Associate Advisor
Media
Enquiries
Contact Associate Professor Rick Sturm directly for media enquiries about:
- Basal cell carcinoma
- Carcinoma
- Eye colour
- Genetics
- Hair colour
- Human pigmentation
- Melanoma
- Pigmentation - human skin
- Skin cancer
- Skin colour
- Skin tanning
- Squamous cell carcinoma
- Sun cancer
- Sun damage
- Sun exposure
- Tanning - of skin
Need help?
For help with finding experts, story ideas and media enquiries, contact our Media team: