<b>Associate Professor Rick Sturm</b><br>
Group Leader, Genomics of Development and Disease Division<br><p>
P: +61 7 3346 2038<br>
E: r.sturm@imb.uq.edu.au<p>
<b>Keywords</b><br>
- skin cancer<br>
- melanoma<br>
- pigmentation
Associate Professor Rick Sturm
Group Leader, Genomics of Development and Disease Division

P: +61 7 3346 2038
E: r.sturm@imb.uq.edu.au

Keywords
- skin cancer
- melanoma
- pigmentation

Melanocytes and skin cancer

The skin is the human body’s largest organ and is constantly working to protect itself by adapting to a range of internal and external factors, such as chemicals, temperature and ultraviolet radiation (UVR).

Our research investigates variations in the genes and melanocyte cell processes that produce pigment and determine an individual’s skin type, hair colour and eye colour and how this affects their sensitivity to sun exposure. We are studying how melanocytes develop into specialised cells within the skin, and how the interaction of melanocytes with keratinocytes after UVR exposure modifies the tanning response, causing our skin to darken to varying degrees.

Knowing the genetic basis of ultraviolet-sensitive skin types will allow us to better understand the changes that occur in skin pathology to improve public health and awareness campaigns for the prevention and early detection of skin cancers, especially within those Australians who are genetically most at risk of being diagnosed with the disease in their lifetime.

Of major interest to our laboratory is the role of the protein melanocortin-1 receptor (MC1R), which is active on the surface of melanocyte cells and plays a role in stimulating melanin production. MC1R gene variants are common in the Australian population and these determine a person’s skin phototype and response of the skin to UV damage.

We are investigating genetic associations of known and previously unknown candidate genes with skin and hair colour to develop a full appreciation of how differences in these physical traits come about. In collaborative efforts we are also studying genes involved in freckling, mole shape, size and colour in the hope of discovering new ways to genetically screen for, diagnose, and treat melanoma in at-risk Australians.

A study of 600 volunteers from Queensland has documented pigmentation and common mole phenotypes to combine with genotypic information from this data set. Notably, we found a significant association between the dominant dermoscopic pattern and MC1R genotypes. We also reported on six patients in our cohort who carry the SUMOylation-deficient MITF E318K mutation that has recently been described as a medium-penetrance melanoma gene. The phenotype of these individuals showed a commonality of fair skin, high total nevi count, and all were multiple primary melanoma patients. There was also a high incidence of amelanotic melanomas found within the group, suggesting a genetic interaction between the MITF E318K allele and MC1R RHC homozygous genotype. These findings have direct clinical relevance to medical practitioners and how they diagnose melanoma in their patients.
 

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Research in the news

27 January 2014 - A 7,000-year-old Spanish man gives insight into human evolution, AM 

Research training opportunities

Please visit IMB's postgraduate website for more information.

Key publications

View more publications by Associate Professor Sturm via PubMed and via UQ Researchers.

R.A. Sturm and D.L. Duffy. (2012) Human pigmentation genes under environmental selection. Genome Biology 13: 248 

C. Praetorius, C. Grill, S.N. Stacey, A.M. Metcalf, D.U. Gorkin, K.C. Robinson, E. Van Otterloo, R.S.Q. Kim, K. Bergsteinsdottir, M.H. Ogmundsdottir, E. Magnusdottir, P.J. Mishra, S.R. Davis, T. Guo, M.R. Zaidi, A.S. Helgason, M.I. Sigurdsson, P.S. Meltzer, G. Merlino, V. Petit, L. Larue, S.K. Loftus, D.R. Adams, U. Sobhiafshar, N.C. Tolga Emre, W.J. Pavan, R. Cornell, A.G. Smith, A.S. McCallion, D.E. Fisher, K. Stefansson, R.A. Sturm, E. Steingrimsson. I. (2013) A polymorphism in IRF4 affects human pigmentation by regulating expression of Tyrosinase through an MITF and TRAP2A- dependent pathway. CELL 155: 1022-1033  

R.A. Sturm, C. Fox, P. McClenahan, K. Jagirdar, M. Ibarrola-Villava, P. Banan, N.C. Abbott, G. Ribas, B. Gabrielli, D.L. Duffy, and H.P. Soyer. (2014) Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. Journal of Investigative Dermatology 134: 141-149 

K. Jagirdar, D.J. Smit, S.A. Ainger, K.J. Lee, D.L. Brown, B. Chapman, Z.Z. Zhao, G.W. Montgomery, N.G. Martin, J.L. Stow, D.L. Duffy and R.A. Sturm. (2014) Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits. Pigment Cell and Melanoma Research 27: 552-564 

C. Praetorius, R.A. Sturm and E. Steingrimsson. (2014) Sun-induced freckling: ephelides and solar lentigines. Pigment Cell and Melanoma Research 27: 339-350  

Group contacts

Dr Stephen Ainger
Research staff
+61 7 334 62721
s.ainger@imb.uq.edu.au
Mr Darren Smit
Research staff
+61 7 334 62361
+61 7 334 62366
d.smit@imb.uq.edu.au
Associate Professor Rick Sturm
Group leader
+61 7 334 62038
r.sturm@imb.uq.edu.au

Ms Kasturee Jagirdar
Research staff
+61 7 334 62362
+61 7 334 62366
k.jagirdar@imb.uq.edu.au

Dr Aaron Smith
Support staff
+61 7 334 62721
a.smith@imb.uq.edu.au
Mr Kelvin Yin
Research higher degree student
+61 7 334 62362
kelvin.yin@uqconnect.edu.au
Ms Katie Lee
Research staff
+61 7 334 62362
katie.lee@imb.uq.edu.au
Mrs Caroline Sturm
Research staff
+61 7 334 62038
+61 7 334 62366
c.sturm@imb.uq.edu.au
 

 

 

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