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
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
2022
Journal Article
Genome-wide association study suggests the variant rs7551288*A within the DHCR24 gene is associated with poor overall survival in melanoma patients
Pflugfelder, Annette, Yong, Xuan Ling Hilary, Jagirdar, Kasturee, Eigentler, Thomas K., Soyer, H. Peter, Sturm, Richard A., Flatz, Lukas and Duffy, David L. (2022). Genome-wide association study suggests the variant rs7551288*A within the DHCR24 gene is associated with poor overall survival in melanoma patients. Cancers, 14 (10) 2410, 2410. doi: 10.3390/cancers14102410
2022
Journal Article
Analysis of human leukocyte antigen associations in human papillomavirus–positive and –negative head and neck cancer: Comparison with cervical cancer
Ekanayake Weeramange, Chameera, Shu, Danhua, Tang, Kai Dun, Batra, Jyotsna, Ladwa, Rahul, Kenny, Lizbeth, Vasani, Sarju, Frazer, Ian H., Dolcetti, Riccardo, Ellis, Jonathan J., Sturm, Richard A., Leo, Paul and Punyadeera, Chamindie (2022). Analysis of human leukocyte antigen associations in human papillomavirus–positive and –negative head and neck cancer: Comparison with cervical cancer. Cancer, 128 (10), 1937-1947. doi: 10.1002/cncr.34148
2022
Journal Article
Experience of 3D total-body photography to monitor naevi: Results from an Australian general population-based cohort study
Horsham, Caitlin, O'Hara, Montana, Sanjida, Saira, Ma, Samantha, Jayasinghe, Dilki, Green, Adele C, Schaider, Helmut, Aitken, Joanne F, Sturm, Richard A, Prow, Tarl, Soyer, H. Peter and Janda, Monika (2022). Experience of 3D total-body photography to monitor naevi: Results from an Australian general population-based cohort study. JMIR Dermatology, 5 (2) e37034, e37034. doi: 10.2196/37034
2021
Conference Publication
Slim-YOLO: a simplified object detection model for the detection of pigmented iris freckles as a potential biomarker for cutaneous melanoma
Naranpanawa, D. Nathasha U., Gu, Yanyang, Chandra, Shekhar S., Betz-Stablein, Brigid, Sturm, Richard A., Soyer, H. Peter and Eriksson, Anders P. (2021). Slim-YOLO: a simplified object detection model for the detection of pigmented iris freckles as a potential biomarker for cutaneous melanoma. Digital Image Computing: Techniques and Applications (DICTA), Gold Coast, Australia, 29 November - 1 December 2021. Piscataway, NJ, United States: Institute of Electrical and Electronics Engineers. doi: 10.1109/dicta52665.2021.9647150
2021
Journal Article
The deacylase SIRT5 supports melanoma viability by influencing chromatin dynamics
Giblin, William, Bringman-Rodenbarger, Lauren, Guo, Angela H., Kumar, Surinder, Monovich, Alexander C., Mostafa, Ahmed M., Skinner, Mary E., Azar, Michelle, Mady, Ahmed S.A., Chung, Carolina H., Kadambi, Namrata, Melong, Keith-Allen, Lee, Ho-Joon, Zhang, Li, Sajjakulnukit, Peter, Trefely, Sophie, Varner, Erika L., Iyer, Sowmya, Wang, Min, Wilmott, James S., Soyer, H. Peter, Sturm, Richard A., Pritchard, Antonia L., Andea, Aleodor A., Scolyer, Richard A., Stark, Mitchell S., Scott, David A., Fullen, Douglas R., Bosenberg, Marcus W. ... Lombard, David B. (2021). The deacylase SIRT5 supports melanoma viability by influencing chromatin dynamics. Journal of Clinical Investigation, 131 (12) e138926, 1-19. doi: 10.1172/jci138926
2021
Journal Article
Genetic analysis of multiple primary melanomas arising within the boundaries of congenital nevi depigmentosa
Fuiten, Allison M., Fankhauser, Reilly G., Smit, Darren J., Stark, Mitchell S., Enright, Trevor F., Wood, Mary A., DePatie, Nicholas A., Pivik, Karla, Sturm, Richard A., Berry, Elizabeth G. and Kulkarni, Rajan P. (2021). Genetic analysis of multiple primary melanomas arising within the boundaries of congenital nevi depigmentosa. Pigment Cell & Melanoma Research, 34 (6) pcmr.12979, 1123-1130. doi: 10.1111/pcmr.12979
2021
Journal Article
The distinctive genomic landscape of giant congenital melanocytic nevi
Stark, Mitchell S., Tell-Martí, Gemma, Martins da Silva, Vanessa, Martinez-Barrios, Estefania, Calbet-Llopart, Neus, Vicente, Asunción, Sturm, Richard A., Soyer, H. Peter, Puig, Susana, Malvehy, Josep, Carrera, Cristina and Puig-Butillé, Joan A. (2021). The distinctive genomic landscape of giant congenital melanocytic nevi. Journal of Investigative Dermatology, 141 (3), 692-695. doi: 10.1016/j.jid.2020.07.022
2021
Journal Article
On naevi and melanomas: two sides of the same coin?
Lee, Katie J., Janda, Monika, Stark, Mitchell S, Sturm, Richard A. and Soyer, H. Peter (2021). On naevi and melanomas: two sides of the same coin?. Frontiers in Medicine, 8 635316, 635316. doi: 10.3389/fmed.2021.635316
2020
Journal Article
CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk
McMeniman, E. K., McInerney-Leo, A. M., Peach, E., Lee, K. J., Yanes, T., Jagirdar, K., Stark, M. S., Soyer, H. P., Duffy, D. L. and Sturm, R. A. (2020). CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk. Journal of the European Academy of Dermatology and Venereology, 34 (12) jdv.16627, e797-e798. doi: 10.1111/jdv.16627
2020
Journal Article
Mutation signatures in melanocytic nevi reveal characteristics of defective DNA repair
Stark, Mitchell S., Denisova, Evgeniya, Kays, Trent A., Heidenreich, Barbara, Rachakonda, Sivaramakrishna, Requena, Celia, Sturm, Richard A., Soyer, H. Peter, Nagore, Eduardo and Kumar, Rajiv (2020). Mutation signatures in melanocytic nevi reveal characteristics of defective DNA repair. Journal of Investigative Dermatology, 140 (10), 2093-2096.e2. doi: 10.1016/j.jid.2020.02.021
2020
Journal Article
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants
Rayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De’Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter and Sturm, Richard A. (2020). Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants. PLoS ONE, 15 (9) e0238529, e0238529. doi: 10.1371/journal.pone.0238529
2020
Journal Article
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
Landi, Maria Teresa, GenoMEL Consortium, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew ... MelaNostrum Consortium (2020). Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nature Genetics, 52 (5), 494-504. doi: 10.1038/s41588-020-0611-8
2020
Journal Article
Gene discovery using twins
Duffy, David, Sturm, Rick, Zhu, Gu and MacGregor, Stuart (2020). Gene discovery using twins. Twin Research and Human Genetics, 23 (2), 90-93. doi: 10.1017/thg.2020.38
2020
Journal Article
Genes determining nevus count and dermoscopic appearance in Australian melanoma cases and controls
Duffy, David L., Jagirdar, Kasturee, Lee, Katie J., McWhirter, Seamus R., McMeniman, Erin K., De’Ambrosis, Brian, Pflugfelder, Annette, Rayner, Jenna E., Whiteman, David C., Brown, Matthew A., Martin, N.G., Smithers, B.M., Schaider, Helmut, Soyer, H. Peter and Sturm, Richard A. (2020). Genes determining nevus count and dermoscopic appearance in Australian melanoma cases and controls. Journal of Investigative Dermatology, 140 (2), 498-501.e17. doi: 10.1016/j.jid.2019.05.032
2019
Journal Article
The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls
McMeniman, E. K., Duffy, D. L., Jagirdar, K., Lee, K. J., Peach, E., McInerney-Leo, A. M., De'Ambrosis, B., Rayner, J. E., Smithers, B. M., Soyer, H. P. and Sturm, R. A. (2019). The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls. British Journal of Dermatology, 183 (2) bjd.18777, 357-366. doi: 10.1111/bjd.18777
2019
Journal Article
Melanoma mutations modify melanocyte dynamics in co-culture with keratinocytes or fibroblasts
Škalamera, Dubravka, Stevenson, Alexander J., Ehmann, Anna, Ainger, Stephen A., Lanagan, Catherine, Sturm, Richard A. and Gabrielli, Brian (2019). Melanoma mutations modify melanocyte dynamics in co-culture with keratinocytes or fibroblasts. Journal of Cell Science, 132 (24) jcs234716, jcs234716. doi: 10.1242/jcs.234716
2019
Journal Article
Multiple interaction nodes define the post-replication repair response to UV-induced DNA damage that is defective in melanomas and correlated with UV signature mutation load
Pavey, Sandra, Pinder, Alex, Fernando, Winnie, D'Arcy, Nicholas, Matigian, Nicholas, Skalamera, Dubravka, Lê Cao, Kim-Anh, Loo-Oey, Dorothy, Hill, Michelle M., Stark, Mitchell, Kimlin, Michael, Burgess, Andrew, Cloonan, Nicole, Sturm, Richard A. and Gabrielli, Brian (2019). Multiple interaction nodes define the post-replication repair response to UV-induced DNA damage that is defective in melanomas and correlated with UV signature mutation load. Molecular Oncology, 14 (1) 1878-0261.12601, 22-41. doi: 10.1002/1878-0261.12601
2019
Journal Article
Naevus count and MC1R R alleles contribute to melanoma risk
Duffy, D. L., Lee, K. J., Jagirdar, K., Pflugfelder, A., Stark, M. S., McMeniman, E. K., Soyer, H. P. and Sturm, R. A. (2019). Naevus count and MC1R R alleles contribute to melanoma risk. British Journal of Dermatology, 181 (5), e119-e119. doi: 10.1111/bjd.18487
2019
Journal Article
The genetics of human skin and hair pigmentation
Pavan, William J. and Sturm, Richard A. (2019). The genetics of human skin and hair pigmentation. Annual Review of Genomics and Human Genetics, 20 (1), 41-72. doi: 10.1146/annurev-genom-083118-015230
Funding
Past funding
Supervision
Availability
- Associate Professor Rick Sturm is:
- Available for supervision
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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
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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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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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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