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
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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.
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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.
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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
Featured
2012
Journal Article
Human pigmentation genes under environmental selection
Sturm, Richard A. and Duffy, David L. (2012). Human pigmentation genes under environmental selection. Genome Biology, 13 (9) 248, 248.1-248.15. doi: 10.1186/gb-2012-13-9-248
Featured
2011
Journal Article
Inverse expression states of the BRN2 and MITF transcription factors in melanoma spheres and tumour xenografts regulate the NOTCH pathway
Thurber, A. E., Douglas, G., Sturm, E. C., Zabierowski, S. E., Smit, D. J., Ramakrishnan, S. N., Hacker, E., Leonard, J. H., Herlyn, M. and Sturm, R. A. (2011). Inverse expression states of the BRN2 and MITF transcription factors in melanoma spheres and tumour xenografts regulate the NOTCH pathway. Oncogene, 30 (27), 3036-3048. doi: 10.1038/onc.2011.33
Featured
2009
Journal Article
Genetics of human iris colour and patterns
Sturm, Richard A. and Larsson, Mats (2009). Genetics of human iris colour and patterns. Pigment Cell and Melanoma Research, 22 (5), 544-562. doi: 10.1111/j.1755-148X.2009.00606.x
Featured
2009
Journal Article
Molecular genetics of human pigmentation diversity
Sturm, Richard A. (2009). Molecular genetics of human pigmentation diversity. Human Molecular Genetics, 18 (R1), R-9-R-17. doi: 10.1093/hmg/ddp003
Featured
2009
Journal Article
Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci
Cook, Anthony L., Chen, Wei, Thurber, Amy E., Smit, Darren J., Smith, Aaron G., Bladen, Timothy G., Brown, Darren L., Duffy, David L., Pastorino, Lorenza, Bianchi-Scarra, Giovanna, Leonard, J. Helen, Stow, Jennifer L. and Sturm, Richard A. (2009). Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci. Journal of Investigative Dermatology, 129 (2), 392-405. doi: 10.1038/jid.2008.211
Featured
2008
Journal Article
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colour
Sturm, Richard A., Duffy, David L., Zhao, Zhen Zhen, Leite, Fabio P.N., Stark, Mitchell S., Hayward, Nicholas K., Martin, Nicholas G. and Montgomery, Grant W. (2008). A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colour. The American Journal of Human Genetics, 82 (2), 424-431. doi: 10.1016/j.ajhg.2007.11.005
2024
Journal Article
Uncovering molecular mechanisms for amelanotic/hypopigmented primary cutaneous melanoma
Sturm, Richard A., Smit, Darren J., Duffy, David L., McLean, Catriona, Scolyer, Richard A., McArthur, Grant A., Papenfuss, Anthony T., Stark, Mitchell S., Soyer, H. Peter and Mar, Victoria J. (2024). Uncovering molecular mechanisms for amelanotic/hypopigmented primary cutaneous melanoma. British Journal of Dermatology ljae336. doi: 10.1093/bjd/ljae336
2024
Journal Article
POT1 and multiple primary melanomas: the dermatological phenotype
Maas, Ellie J., DeBortoli, Emily, Nathan, Vaishnavi, Freeman, Ned P., Mothershaw, Adam, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2024). POT1 and multiple primary melanomas: the dermatological phenotype. Journal of Medical Genetics, 61 (9) jmg-2023-109637, 1-4. doi: 10.1136/jmg-2023-109637
2024
Journal Article
Automated Detection of Pigmented Iris Freckles using a Deep Neural Network for Cutaneous Melanoma Risk
Naranpanawa, Nathasha, Jayasinghe, Dilki, Sturm, Richard A., Betz-Stablein, Brigid, Janda, Monika, Eriksson, Anders, Soyer, H. Peter and Chandra, Shekhar S. (2024). Automated Detection of Pigmented Iris Freckles using a Deep Neural Network for Cutaneous Melanoma Risk. Journal of Investigative Dermatology, 144 (11), 2602-2605.e4. doi: 10.1016/j.jid.2024.04.029
2024
Journal Article
Assessing the genetic risk of nodular melanoma using a candidate gene approach
Stark, Mitchell S., Sturm, Richard A., Pan, Yan, Smit, Darren J., Kommajosyula, Varsha, Lee, Katie J., Jagirdar, Kasturee, McLean, Catriona, Duffy, David L., Soyer, H. Peter and Mar, Victoria J. (2024). Assessing the genetic risk of nodular melanoma using a candidate gene approach. British Journal of Dermatology, 190 (2), 199-206. doi: 10.1093/bjd/ljad365
2024
Journal Article
The ATM Ser49Cys variant effects ATM function as a regulator of oncogene-induced senescence
Atkinson, Caroline, McInerney-Leo, Aideen, Proctor, Martina, Lanagan, Catherine, Stevenson, Alexander, Dehkhoda, Farhad, Caole, Mary, Maas, Ellie, Ainger, Stephen, Pritchard, Antonia, Johansson, Peter, Leo, Paul, Hayward, Nicholas, Sturm, Richard, Duncan, Emma and Gabrielli, Brian (2024). The ATM Ser49Cys variant effects ATM function as a regulator of oncogene-induced senescence. International Journal of Molecular Sciences, 25 (3) 1664, 1-12. doi: 10.3390/ijms25031664
2024
Other Outputs
Pigmented Iris Freckle Data
Naranpanawa, Nathasha, Chandra, Shekhar S. and Sturm, Richard A. (2024). Pigmented Iris Freckle Data . The University of Queensland. (Dataset) doi: 10.48610/355ad45
2023
Journal Article
H3K4me3 remodeling induced acquired resistance through O-GlcNAc transferase
Menon, Dinoop Ravindran, Hammerlindl, Heinz, Gimenez, Gregory, Hammerlindl, Sabrina, Zuegner, Elmar, Torrano, Joachim, Bordag, Natalie, Emran, Abdullah Al, Giam, Maybelline, Denil, Simon, Pavelka, Norman, Tan, Aik-Choon, Sturm, Richard A., Haass, Nikolas K., Rancati, Giulia, Herlyn, Meenhard, Magnes, Christoph, Eccles, Michael R., Fujita, Mayumi and Schaider, Helmut (2023). H3K4me3 remodeling induced acquired resistance through O-GlcNAc transferase. Drug Resistance Updates, 71 100993, 100993. doi: 10.1016/j.drup.2023.100993
2023
Journal Article
MITF E318K: A rare homozygous case with multiple primary melanoma
Wallingford, Courtney K., Maas, Ellie J., Howard, Antonia, DeBortoli, Emily, Bhanja, Deboshmita, Lee, Katie, Mothershaw, Adam, Jagirdar, Kasturee, Willett, Rod, Betz‐Stablein, Brigid, Sturm, Richard A., Soyer, H. Peter and McInerney‐Leo, Aideen M. (2023). MITF E318K: A rare homozygous case with multiple primary melanoma. Pigment Cell & Melanoma Research, 37 (1), 68-73. doi: 10.1111/pcmr.13122
2023
Journal Article
GOLM1: expanding our understanding of melanoma susceptibility
Maas, Ellie J., Wallingford, Courtney K., DeBortoli, Emily, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2023). GOLM1: expanding our understanding of melanoma susceptibility. Journal of Medical Genetics, 60 (9) jmg-2023-109348, 1-3. doi: 10.1136/jmg-2023-109348
2023
Journal Article
The MC1R r allele does not increase melanoma risk in MITF E318K carriers
Wallingford, Courtney K., Demeshko, Anastassia, Krishnakripa, Asha Krishnankutty, Smit, Darren J., Duffy, David L., Betz-Stablein, Brigid, Pflugfelder, Annette, Jagirdar, Kasturee, Holland, Elizabeth, Mann, Graham J., Primiero, Clare A., Yanes, Tatiane, Malvehy, Josep, Badenas, Cèlia, Carrera, Cristina, Aguilera, Paula, Olsen, Catherine M., Ward, Sarah V., Haass, Nikolas K., Sturm, Richard A., Puig, Susanna, Whiteman, David C., Law, Matthew H., Cust, Anne E., Potrony, Miriam, Soyer, H. Peter and McInerney-Leo, Aideen M. (2023). The MC1R r allele does not increase melanoma risk in MITF E318K carriers. British Journal of Dermatology, 188 (6), 770-776. doi: 10.1093/bjd/ljad041
2023
Journal Article
Skin cancer excisions and histopathology outcomes when following a contemporary population‐based cohort longitudinally with 3D total‐body photography
Soyer, H. Peter, O’Hara, Montana, V. Silva, Carina, Horsham, Caitlin, Jayasinghe, Dilki, Sanjida, Saira, Schaider, Helmut, Aitken, Joanne, Sturm, Richard A., Prow, Tarl, Menzies, Scott W. and Janda, Monika (2023). Skin cancer excisions and histopathology outcomes when following a contemporary population‐based cohort longitudinally with 3D total‐body photography. Skin Health and Disease, 3 (2) e216, e216. doi: 10.1002/ski2.216
2022
Journal Article
Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism
Maas, Ellie J, Wallingford, Courtney K, McGuire, Jessica J, Rutjes, Chantal, Smit, Darren J, Betz-Stablein, Brigid, Sturm, Richard A, Soyer, H Peter and McInerney-Leo, Aideen M (2022). Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism. The Journal of Dermatology, 49 (11), 1183-1187. doi: 10.1111/1346-8138.16528
2022
Journal Article
Reciprocal regulation of BRN2 and NOTCH1/2 signaling synergistically drives melanoma cell migration and invasion
Fane, Mitchell E., Chhabra, Yash, Spoerri, Loredana, Simmons, Jacinta L., Ludwig, Raquelle, Bonvin, Elise, Goding, Colin R., Sturm, Richard A., Boyle, Glen M., Haass, Nikolas K., Piper, Michael and Smith, Aaron G. (2022). Reciprocal regulation of BRN2 and NOTCH1/2 signaling synergistically drives melanoma cell migration and invasion. Journal of Investigative Dermatology, 142 (7), 1845-1857. doi: 10.1016/j.jid.2020.12.039
2022
Journal Article
Genome-scale DNA methylation analysis identifies repeat element alterations that modulate the genomic stability of melanocytic nevi
Muse, Meghan E., Bergman, Drew T., Salas, Lucas A., Tom, Lisa N., Tan, Jean-Marie, Laino, Antonia, Lambie, Duncan, Sturm, Richard A., Schaider, Helmut, Soyer, H. Peter, Christensen, Brock C. and Stark, Mitchell S. (2022). Genome-scale DNA methylation analysis identifies repeat element alterations that modulate the genomic stability of melanocytic nevi. The Journal of Investigative Dermatology, 142 (7), 1893-1902.e7. doi: 10.1016/j.jid.2021.11.025
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
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2009
Doctor Philosophy
The molecular mechanism of MC1R association with skin cancer risk phenotypes
Principal Advisor
Other advisors: Professor Jennifer Stow
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2008
Doctor Philosophy
A Melanocyte-Keratinocyte Coculture Model to Study MC1R Dependent Pigmentation Responses
Principal Advisor
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2006
Doctor Philosophy
MOLECULAR CHANGES DEFINING THE TRANSITION FROM RADIAL TO VERTICAL GROWTH PHASE IN MELANOMA
Principal Advisor
Other advisors: Professor Jennifer Stow
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2004
Doctor Philosophy
MODELS OF HUMAN NEURAL CREST CELL DIFFERENTIATION IN VITRO
Principal Advisor
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2020
Master Philosophy
Gene Polymorphisms Associated with Amelanotic/Hypopigmented and Nodular Melanoma
Associate Advisor
Other advisors: Professor Peter Soyer
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2020
Master Philosophy
The role of SETDB1/2-mediated H3K9me3 in drug-tolerant cancer
Associate Advisor
Other advisors: Associate Professor Helmut Schaider
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2020
Doctor Philosophy
Genotypic and phenotypic correlations in a cohort of patients with multiple primary melanoma
Associate Advisor
Other advisors: Professor Peter Soyer
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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
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2018
Master Philosophy
Dermoscopic and molecular correlation of melanocytic naevi
Associate Advisor
Other advisors: Dr Mitchell Stark, Professor Peter Soyer
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2018
Doctor Philosophy
Phenotypes and Genotypes of Melanoma Patients
Associate Advisor
Other advisors: Professor Peter Soyer
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2017
Doctor Philosophy
Investigating the role of the MITF-BRN2 expression axis in metastatic melanoma
Associate Advisor
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2016
Doctor Philosophy
Investigating the role of NR4A genes in response to cellular stress
Associate Advisor
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2014
Doctor Philosophy
Role of IRF6 in epithelial cell-mediated host defence and inflammation
Associate Advisor
Other advisors: Professor Matt Sweet
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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
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