Research Topics
Genomes and Genes
| Richard A SturmSummaryAffiliation: University of Queensland Country: Australia Publications
| Collaborators
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Detail Information
Publications
Novel MC1R variants in Ligurian melanoma patients and controlsLorenza Pastorino
Dipartimento di Oncologia, Biologia e Genetica, Universita degli Studi di Genova, 16132, Italy
Hum Mutat 24:103. 2004....- Eye colour: portals into pigmentation genes and ancestryRichard A Sturm
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
Trends Genet 20:327-32. 2004..These studies show that the OCA2 gene on chromosome 15 is the major determinant of brown and/or blue eye colour but also indicate that other loci will be involved in the broad range of hues seen in this trait in Europeans... 
Human pigmentation genes under environmental selectionRichard A Sturm
Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, QLD 4072, Australia
Genome Biol 13:248. 2012..Environmental changes have had an impact on selected pigmentation genes as populations have expanded into different regions of the globe...- Skin colour and skin cancer - MC1R, the genetic linkR A Sturm
Institute for Moleular Bioscience, University of Queensland, Brisbane, Australia
Melanoma Res 12:405-16. 2002.... 
Genetics of human iris colour and patternsRichard A Sturm
Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
Pigment Cell Melanoma Res 22:544-62. 2009..Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6...- Osteonectin/SPARC induction by ectopic beta(3) integrin in human radial growth phase primary melanoma cellsRichard A Sturm
The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
Cancer Res 62:226-32. 2002.... - Molecular genetics of human pigmentation diversityRichard A Sturm
Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
Hum Mol Genet 18:R9-17. 2009..From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation... - The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypesRichard A Sturm
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
Pigment Cell Res 16:266-72. 2003..Such genetic association studies combined with the functional analysis of MC1R variant alleles in melanocytic cells should provide a link in understanding the association between pigmentary phototypes and skin cancer risk... - Genetic association and cellular function of MC1R variant alleles in human pigmentationR A Sturm
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
Ann N Y Acad Sci 994:348-58. 2003..With this objective, we have established more than 300 melanocyte cell strains of defined MC1R genotype... - A golden age of human pigmentation geneticsRichard A Sturm
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
Trends Genet 22:464-8. 2006..SLC24A5 promotes melanin deposition through maturation of the melanosome, highlighting the importance of ion-exchange in the function of this organelle... - Human pigmentation genes: identification, structure and consequences of polymorphic variationR A Sturm
Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
Gene 277:49-62. 2001..Functional correlation of MC1R alleles with skin and hair colour provides evidence that this receptor molecule is a principle component underlying normal human pigment variation... - Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: pigmentation marker, ultrastructural and UV-survival studiesJ Helen Leonard
Queensland Radium Institute Research Unit, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
Pigment Cell Res 16:198-207. 2003..This was despite being able to show expression of tyrosinase and tyrosinase-related protein-1 markers, although at reduced levels and an ability to convert exogenous 3,4-dihydroxyphenyl-alanine (DOPA) to melanin in these strains... - Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanomaDavid L Duffy
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
J Invest Dermatol 130:520-8. 2010..We also detected significant epistatic interactions between SLC45A2 and OCA2 alleles, and MC1R and ASIP alleles. Overall, these measured variants account for 12% of the familial risk of CMM in our population... - Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P lociAnthony L Cook
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
J Invest Dermatol 129:392-405. 2009.... - A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colorRichard A Sturm
Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
Am J Hum Genet 82:424-31. 2008.... - Receptor function, dominant negative activity and phenotype correlations for MC1R variant allelesKimberley A Beaumont
Institute for Molecular Bioscience, University of Queensland, Bristane, Australia
Hum Mol Genet 16:2249-60. 2007..These findings show the first direct correlations between variant MC1R biochemical properties and pigmentation phenotype... - A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variationDavid L Duffy
Queensland Institute of Medical Research, Brisbane, Australia
Am J Hum Genet 80:241-52. 2007.... - Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2Sri N Shekar
Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
J Invest Dermatol 128:2807-14. 2008..03 after correction for multiple testing, respectively). These two SNPs explain 1.54 and 0.85% of variation in the A650t index, respectively... - Melanocytes expressing MC1R polymorphisms associated with red hair color have altered MSH-ligand activated pigmentary responses in coculture with keratinocytesDonald W Roberts
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
J Cell Physiol 215:344-55. 2008.... - Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer riskKimberley A Beaumont
Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
Hum Mol Genet 14:2145-54. 2005.... - Melanocortin-1 receptor-mediated signalling pathways activated by NDP-MSH and HBD3 ligandsKimberley A Beaumont
Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
Pigment Cell Melanoma Res 25:370-4. 2012..We suggest that β-defensin 3 may be a novel melanocortin-1 receptor agonist involved in regulating melanocyte responses in humans... - Osteonectin downregulates E-cadherin, induces osteopontin and focal adhesion kinase activity stimulating an invasive melanoma phenotypeDarren J Smit
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia
Int J Cancer 121:2653-60. 2007..These results indicate a central role for Osteonectin in the regulation of gene expression changes driving the progression of melanoma toward metastasis... - Interactive effects of MC1R and OCA2 on melanoma risk phenotypesDavid L Duffy
Queensland Insititute of Medical Research, Brisbane, Australia
Hum Mol Genet 13:447-61. 2004..Amongst individuals with a R/R genotype (but not R/r), those who also had brown eyes had a mole count twice that of those with blue eyes. This suggests that other OCA2 polymorphisms influence mole count and remain to be described... - Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathwaysRichard A Newton
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
Peptides 28:2387-96. 2007..This synergism was impaired in melanocytes expressing RHC variants of MC1R which may be relevant for the poor tanning ability associated with individuals possessing these alleles... - Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitroAnthony L Cook
Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
Exp Cell Res 308:222-35. 2005..Our results suggest that a complex network of transcription factor interactions requiring proper temporal coordination is necessary for acquisition and maintenance of the melanocytic phenotype... - Melanoma cell invasiveness is regulated by miR-211 suppression of the BRN2 transcription factorGlen M Boyle
Drug Discovery Group, Division of Cancer and Cell Biology, Queensland Institute of Medical Research, Brisbane, QLD, Australia
Pigment Cell Melanoma Res 24:525-37. 2011..We propose a model for the apparent non-overlapping expression levels of BRN2 and MITF in melanoma, mediated by miR-211 expression... - Spectrophotometric methods for quantifying pigmentation in human hair-influence of MC1R genotype and environmentSri N Shekar
Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, QLD, Australia
Photochem Photobiol 84:719-26. 2008..Our results show that spectrophotometric measures approximating variation in eumelanin and pheomelanin may be considered as an alternative to chemical methods in larger epidemiological studies... - MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in cultureShu Shyan Wong
Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
J Invest Dermatol 132:1452-61. 2012..We also found that MC1R wild-type strains regulate DDB2 protein levels through p38, but MC1R R/R variant melanocytes do not. This work confirms the important functional role that the MC1R receptor plays in UVR stress-induced DNA repair... - Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian communityHelene C Johanson
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
J Hum Genet 55:103-11. 2010..We hypothesize that this mutation may be Polynesian specific and that it originated from a common founder... - Melanocortin-1 receptor signaling markedly induces the expression of the NR4A nuclear receptor subgroup in melanocytic cellsAaron G Smith
Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland 4072, Australia
J Biol Chem 283:12564-70. 2008..These data identify the NR4A receptor family as potential mediators of an MC1R-coordinated DNA damage response to UV exposure in melanocytic cells... - Red hair is the null phenotype of MC1RKimberley A Beaumont
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
Hum Mutat 29:E88-94. 2008..We report here the first case of a homozygous MC1R null individual, phenotypic analysis indicates that red hair and fair skin is found in the absence of MC1R function... - PPARgamma agonists attenuate proliferation and modulate Wnt/beta-catenin signalling in melanoma cellsAaron G Smith
The University of Queensland, Institute for Molecular Bioscience, QLD 4072, Australia
Int J Biochem Cell Biol 41:844-52. 2009..Moreover, our data indicate that PPARgamma modulates Wnt/beta-catenin mediated signalling in melanoma cells in an agonist dependent manner... - Quantitative analysis of MC1R gene expression in human skin cell culturesDonald W Roberts
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
Pigment Cell Res 19:76-89. 2006.... - Characterization of the Melanoma miRNAome by Deep SequencingMitchell S Stark
Oncogenomics Laboratory, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
PLoS ONE 5:e9685. 2010..We therefore undertook a comprehensive analysis of the miRNAome in a diverse range of pigment cells including: melanoblasts, melanocytes, congenital nevocytes, acral, mucosal, cutaneous and uveal melanoma cells... - Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cellsAaron G Smith
Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
Pigment Cell Melanoma Res 24:551-63. 2011..Taken together, these data suggest that dysregulation of NR4A nuclear receptors expression and function by the MAPK pathway may contribute to melanoma tumourigenicity... - GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern developmentMats Larsson
Queensland Institute of Medical Research, Brisbane, Australia
Am J Hum Genet 89:334-43. 2011..These findings suggest that genes involved in normal neuronal pattern development may also influence tissue structures in the human iris... - Melanocortin MC₁ receptor in human genetics and model systemsKimberley A Beaumont
Institute for Molecular Bioscience, The University of Queensland, Brisbane QLD 4072, Australia
Eur J Pharmacol 660:103-10. 2011.... - Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytesRichard A Newton
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
J Invest Dermatol 127:2216-27. 2007.... - The melanocortin-1 receptor gene polymorphism and association with human skin cancerKimberley A Beaumont
Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia
Prog Mol Biol Transl Sci 88:85-153. 2009..Notably, MC1R activation has been linked to DNA repair and may also contribute to the regulation of immune responses... - The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome traffickingKimberley A Beaumont
Institute for Molecular Bioscience, The University of Queensland, Brisbane 4072 QLD, Australia
Traffic 12:627-43. 2011..Our findings reveal new functions for RE and Rab17 in pigmentation through a distal step in the process of melanosome release via filopodia... - Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cellsRichard A Newton
Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld. 4072, Australia
Peptides 26:1818-24. 2005..The common RHC alleles, Arg151Cys, Arg160Trp and Asp294His, are neither complete loss-of-function receptors nor are they functionally equivalent... - Human melanoblasts in culture: expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3Anthony L Cook
The Institute for Molecular Bioscience, Center for Functional and Applied Genomics, The University of Queensland, Brisbane, Australia
J Invest Dermatol 121:1150-9. 2003..These finding implicate BRN2 as an early marker of melanoblasts that may contribute to the hierarchy of melanocytic gene control... - Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinomaN F Box
Center for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
J Invest Dermatol 116:224-9. 2001.... - A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15qGu Zhu
Queensland Institute of Medical Research, Brisbane, Australia
Twin Res 7:197-210. 2004..We conclude that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci... - Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene familyR A Sturm
Centre for Molecular and Cellular Biology, University of Queensland, Australia
Genomics 29:24-34. 1995..The evidence also suggests that at least some of the introns within the TYR, TYRP1, and TYRP2 coding regions were gained after duplication and that intron slippage is unlikely to have occurred... - POU domain transcription factors: BRN2 as a regulator of melanocytic growth and tumourigenesisAnthony L Cook
Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
Pigment Cell Melanoma Res 21:611-26. 2008..Recent studies have shown BRN2 to be responsive to MAPK pathway activation and to modulate the levels of MITF so as to suppress the differentiated melanocytic phenotype and to enhance tumour metastasis... - Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hairN F Box
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia
Hum Mol Genet 6:1891-7. 1997..Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production... - A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNAJ Voisey
CRC for Diagnostic Technologies, Queensland University of Technology, Brisbane, Australia
Pigment Cell Res 19:226-31. 2006..05). This study suggests that the 3'-UTR polymorphism results in decreased levels of ASIP and therefore less pheomelanin production... - DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation methodHelene C Johanson
Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
Biotechniques 46:309-11. 2009..This optimized protocol therefore extends the usefulness and cost effectiveness of each buccal swab sample collected, when used for nucleic acid PCR and genotyping... - Effect of MC1R variant allele status on MSH-ligand induction of dopachrome tautomerase in melanocytes co-cultured with keratinocytesStephen A Ainger
Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, QLD, Australia Queensland Institute of Medical Research, Brisbane, QLD, Australia
Exp Dermatol 20:681-4. 2011..These responses are consistent with the dominant negative effect of these alleles on the MC1R WT allele that has previously been demonstrated genetically and biochemically... - A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull TerriersPuya Gharahkhani
School of Veterinary Science, The University of Queensland, Gatton, Queensland, Australia
PLoS ONE 6:e22455. 2011..Thus, BTPKD is associated with a missense mutation in Pkd1, and the application of this mutation specific assay could reduce disease transmission by allowing diagnosis of disease in young animals prior to breeding... - Human pigmentation genes and their response to solar UV radiationR A Sturm
Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Australia
Mutat Res 422:69-76. 1998..The combination of DNA damage, the formation of diacylglycerol, and the action of the melanocyte stimulating hormone receptor are all likely to be involved in UV-induced tanning... - Human pigmentation genetics: the difference is only skin deepR A Sturm
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia
Bioessays 20:712-21. 1998.... - MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutationsN F Box
Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4029, Australia
Am J Hum Genet 69:765-73. 2001.... - The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolutionA G Smith
Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
Gene 281:81-94. 2001.... - Multiple genes and locus interactions in susceptibility to vitiligoAaron G Smith
Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
J Invest Dermatol 130:643-5. 2010..Investigation of the genetic interaction among these loci (and with a previously identified susceptibility gene, NLRP1, on chromosome 17) as risk factors for vitiligo demonstrates the complex nature of this disease... - Osteopontin in melanocytic lesions--a first step towards invasion?Richard A Sturm
Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
J Invest Dermatol 124:xiv-xv. 2005 - Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1N F Box
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia
Mamm Genome 9:50-3. 1998..Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p- syndrome patients... - Dinucleotide repeat polymorphism at the human TYRP1 locusN F Box
Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
Hum Mol Genet 3:2270. 1994 - Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14R A Sturm
Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
Genomics 21:293-6. 1994 - Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinomaJ Helen Leonard
Queensland Radium Institute Research Unit, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
Int J Cancer 101:103-10. 2002.... - Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNAJ L Cassady
Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
Gene 143:295-8. 1994..Northern blot analysis reveals that TRP-2 is expressed at high levels in human melanoma cells... - Identification of a marsupial OTF1 gene: cross-species STS analysis and in situ cross-hybridization to Macropus eugenii chromosomes 3/4 and 5R A Sturm
Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane
Cytogenet Cell Genet 65:272-5. 1994..eugenii chromosomes 3/4 and 5 by in situ hybridization. These regions are likely to represent cross-reaction with the homologues of human OTF1 and closely related OTF2 genes... - The human OTF1 locus which overlaps the CD3Z gene is located at 1q22-->q23R A Sturm
Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
Cytogenet Cell Genet 68:231-2. 1995..We report here the regional localization of OTF1 to 1q22-->q23 by fluorescence in situ hybridization. The physical linkage of the CD3Z gene to the OTF1 transcription unit also refines the location of the CD3Z locus to 1q22-->q23... - Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiationMark J Eliason
Department of Dermatology, Health Sciences Center, University of Utah, Salt Lake City, UT 84112 5550, USA
Arch Dermatol 143:1409-12. 2007..We describe a patient from a familial melanoma pedigree with 7 primary melanomas on the right side of her body, the first occurring 5 years after exposure to atmospheric nuclear bomb testing in the 1950s... - Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melaninKazumasa Wakamatsu
Department of Chemistry, Fujita Health University School of Health Sciences, Toyoake, Aichi, Japan
Pigment Cell Res 19:154-62. 2006.... - MC1R expression in skin: is it confined to melanocytes?Donald W Roberts
J Invest Dermatol 127:2472-3. 2007