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
2012
Journal Article
A UVR-induced G2-phase checkpoint response to ssDNA gaps produced by replication fork bypass of unrepaired lesions is defective in melanoma
Wigan, Matthew, Pinder, Alex, Giles, Nichole, Pavey, Sandra, Burgess, Andrew, Wong, ShuShyan, Sturm, Rick A. and Gabrielli, Brian (2012). A UVR-induced G2-phase checkpoint response to ssDNA gaps produced by replication fork bypass of unrepaired lesions is defective in melanoma. Journal of Investigative Dermatology, 132 (6), 1681-1688. doi: 10.1038/jid.2012.41
2012
Journal Article
MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in culture
Wong, Shu Shyan, Ainger, Stephen A., Leonard, J. Helen and Sturm, Richard A. (2012). MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in culture. Journal of Investigative Dermatology, 132 (5), 1452-1461. doi: 10.1038/jid.2011.473
2012
Journal Article
Melanocortin-1 receptor-mediated signalling pathways activated by NDP-MSH and HBD3 ligands
Beaumont, Kimberley A., Smit, Darren J., Liu, Yan Yan, Chai, Eric, Patel, Mira P., Millhauser, Glenn L., Smith, Jennifer J., Alewood, Paul F. and Sturm, Richard A. (2012). Melanocortin-1 receptor-mediated signalling pathways activated by NDP-MSH and HBD3 ligands. Pigment Cell and Melanoma Research, 25 (3), 370-374. doi: 10.1111/j.1755-148X.2012.00990.x
2011
Journal Article
Dot Bennett
Sturm, Rick (2011). Dot Bennett. Pigment Cell and Melanoma Research, 24 (5), 986-986. doi: 10.1111/j.1755-148X.2011.00904.x
2011
Journal Article
Effect of MC1R variant allele status on MSH-ligand induction of dopachrome tautomerase in melanocytes co-cultured with keratinocytes
Ainger, Stephen A., Wong, Shu S., Roberts, Donald W., Leonard, J. Helen and Sturm, Richard A. (2011). Effect of MC1R variant allele status on MSH-ligand induction of dopachrome tautomerase in melanocytes co-cultured with keratinocytes. Experimental Dermatology, 20 (8), 681-684. doi: 10.1111/j.1600-0625.2011.01293.x
2011
Journal Article
GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development
Larsson, Mats, Duffy, David L., Zhu, Gu, Liu, Jimmy Z., Macgregor, Stuart, McRae, Allan F., Wright, Margaret J., Sturm, Richard A., Mackey, David A., Montgomery, Grant W., Martin, Nicholas G. and Medland, Sarah E. (2011). GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development. American Journal of Human Genetics, 89 (2), 334-343. doi: 10.1016/j.ajhg.2011.07.011
2011
Journal Article
A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers
Gharahkhani, Puya, O’Leary, Caroline A., Kyaw-Tanner, Myat, Sturm, Richard A. and Duffy, David L. (2011). A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. Plos One, 6 (7) e22455, Article number e22455. doi: 10.1371/journal.pone.0022455
2011
Journal Article
Melanocortin MC1 receptor in human genetics and model systems
Beaumont, Kimberley A., Wong, Shu S., Ainger, Stephen A., Liu, Yan Yan, Patel, Mira P., Millhauser, Glenn L., Smith, Jennifer J., Alewood, Paul F., Leonard, J. Helen and Sturm, Richard A. (2011). Melanocortin MC1 receptor in human genetics and model systems. European Journal of Pharmacology, 660 (1), 103-110. doi: 10.1016/j.ejphar.2010.11.040
2011
Journal Article
Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cells
Smith, Aaron G., Lim, Wen, Pearen, Michael, Muscat, George E. O. and Sturm, Richard A. (2011). Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cells. Pigment Cell and Melanoma Research, 24 (3), 551-563. doi: 10.1111/j.1755-148X.2011.00843.x
2011
Journal Article
Melanoma cell invasiveness is regulated by miR-211 suppression of the BRN2 transcription factor
Boyle, Glen M., Woods, Susan L., Bonazzi, Vanessa F., Stark, Mitchell S., Hacker, Elke, Aoude, Lauren G., Dutton-Regester, Ken, Cook, Anthony L., Sturm, Richard A. and Hayward, Nicholas K. (2011). Melanoma cell invasiveness is regulated by miR-211 suppression of the BRN2 transcription factor. Pigment Cell and Melanoma Research, 24 (3), 525-537. doi: 10.1111/j.1755-148X.2011.00849.x
2011
Journal Article
The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking
Beaumont, Kimberley A., Hamilton, Nicholas A., Moores, Matthew T., Brown, Darren L., Ohbayashi, Norihiko, Cairncross, Oliver, Cook, Anthony L., Smith, Aaron G., Misaki, Ryo, Fukuda, Mitsunori, Taguchi, Tomohiko, Sturm, Richard A. and Stow, Jennifer L. (2011). The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking. Traffic, 12 (5), 627-643. doi: 10.1111/j.1600-0854.2011.01172.x
2011
Conference Publication
Abstract 4197: A DNA damage checkpoint response to unrepaired ultraviolet radiation-induced lesions which is defective in melanoma
Wigan, Matthew, Pavey, Sandra, Brooks, Kelly, Giles, Nichole, Burgess, Andrew, Sturm, Rick and Gabrielli, Brian (2011). Abstract 4197: A DNA damage checkpoint response to unrepaired ultraviolet radiation-induced lesions which is defective in melanoma. AACR 102nd Annual Meeting 2011, Orlando, FL United States, 2‐6 April 2011. Philadelphia, PA United States: American Association for Cancer Research. doi: 10.1158/1538-7445.am2011-4197
2011
Conference Publication
Dermoscopy, reflectance confocal microscopy and histopathology of an amelanotic melanoma from an individual with the heterozygous MC1R variation 160W
Curchin, C. E. S., Wurm, E. M. T., Douglas, N. C., Jagirdar, K., Sturm, R. A. and Soyer, H. P. (2011). Dermoscopy, reflectance confocal microscopy and histopathology of an amelanotic melanoma from an individual with the heterozygous MC1R variation 160W. Australasian College of Dermatologists 44th Annual Scientific Meeting, Perth WA, Australia, 15-18 May 2011. Richmond VIC, Australia: Wiley-Blackwell Publishing. doi: 10.1111/j.1440-0960.2011.00757.x
2011
Conference Publication
Human pigmentation genes and population polymorphism
Sturm, RA (2011). Human pigmentation genes and population polymorphism. unknown, unknown, unknown. MALDEN: WILEY-BLACKWELL.
2010
Journal Article
Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation
Kadekaro, Ana Luisa, Leachman, Sancy, Kavanagh, Renny J., Swope, Viki, Cassidy, Pamela, Supp, Dorothy, Sartor, Maureen, Schwemberger, Sandy, Babcock, George, Wakamatsu, Kazumasa, Ito, Shosuke, Koshoffer, Amy, Boissy, Raymond E., Manga, Prashiela, Sturm, Richard A. and Abdel-Malek, Zalfa A. (2010). Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB Journal, 24 (10), 3850-3860. doi: 10.1096/fj.10-158485
2010
Journal Article
Nestin and SOX9 and SOX10 transcription factors are coexpressed in melanoma
Bakos, Renato M., Maeir, Tanja, Besch, Robert, Mestel, Dominik S., Ruzicka, Thomas, Sturm, Richard A. and Berking, Carola (2010). Nestin and SOX9 and SOX10 transcription factors are coexpressed in melanoma. Experimental Dermatology, 19 (8), e89-e94. doi: 10.1111/j.1600-0625.2009.00991.x
2010
Journal Article
Unexpectedly severe acute radiotherapy side effects are associated with single nucleotide polymorphisms of the melanocortin-1 receptor
Fogarty, Gerald B., Muddle, Rory, Sprung, Carl N., Chen, Wei, Duffy, David, Sturm, Richard A. and McKay, Michael J. (2010). Unexpectedly severe acute radiotherapy side effects are associated with single nucleotide polymorphisms of the melanocortin-1 receptor. International Journal of Radiation: Oncology - Biology - Physics, 77 (5), 1486-1492. doi: 10.1016/j.ijrobp.2009.07.1690
2010
Journal Article
IRF4 variants have age-specific effects on nevus count and predispose to melanoma
Duffy, David L., Iles, Mark M., Glass, Dan, Zhu, Gu, Barrett, Jennifer H., Hoiom, Veronica, Zhao, Zhen Z., Sturm, Richard A., Soranzo, Nicole, Hammond, Chris, Kvaskoff, Marina, Whiteman, David C., Mangino, Massimo, Hansson, Johan, Newton-Bishop, Julia A., Bataille, Veronique, Hayward, Nicholas K., Martin, Nicholas G., Bishop, D. Timothy, Spector, Timothy D. and Montgomery, Grant W. (2010). IRF4 variants have age-specific effects on nevus count and predispose to melanoma. American Journal of Human Genetics, 87 (1), 6-16. doi: 10.1016/j.ajhg.2010.05.017
2010
Journal Article
Characterization of the melanoma miRNAome by deep sequencing
Stark, Mitchell S., Tyagi, Sonika, Nancarrow, Derek J., Boyle, Glen M., Cook, Anthony L., Whiteman, David C., Parsons, Peter G., Schmidt, Christopher, Sturm, Richard A. and Hayward, Nicholas K. (2010). Characterization of the melanoma miRNAome by deep sequencing. PLoS One, 5 (3) e9685, e9685-1-e9685-9. doi: 10.1371/journal.pone.0009685
2010
Journal Article
Multiple genes and locus interactions in susceptibility to vitiligo
Smith, Aaron G. and Sturm, Richard A. (2010). Multiple genes and locus interactions in susceptibility to vitiligo. Journal of Investigative Dermatology, 130 (3), 643-645. doi: 10.1038/jid.2009.403
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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