School of Chemistry and Molecular Biosciences

Dr Joe Rothnagel

BSc Hons (Adelaide), PhD (Adelaide) Biochemistry
Honorary Associate Professor
School of Chemistry and Molecular Biosciences

Primary research interest

Molecular genetics and cell biology of the skin

About me

I completed my PhD in Biochemistry in 1985 at The University of Adelaide under the supervision of Professor George Rogers. From November 1985 - September 1988 I was a Visiting Fellow at the National Institutes of Health (Bethesda) in Dr Peter Steinert’s lab (NCI - Dermatology Branch). In September 1988, I joined Dr Dennis Roop at Baylor College of Medicine (Houston) as an Assistant Professor in the Department of Cell Biology chaired by Professor Bert O’Malley. During this time at Baylor, I was also an Assistant Professor in the Department of Dermatology. I returned to Australia in June 1995 as a lecturer in Biochemistry at The University of Queensland and was awarded a Wellcome Senior Research Fellowship in 1996.

Research profiles

Research focus and collaborations

Characterisation of novel bioactive peptides

The difference between proteome complexity and gene number has confounded biologists. This difference can be accounted for in part by alternative transcription start sites, alternative splicing, mRNA editing and post-translational modifications. However, we propose that the proteome also contains peptides arising from the translation of short open reading frames (sORFs) present within transcribed regions of the genome. Most translatable sORFs occur in the 5' untranslated regions (5'UTRs) of eukaryotic mRNAs but recent work has shown that they can be found within the main ORF and 3'UTR of mRNAs as well as on non-coding and antisense transcripts. The short peptides (sPEPs) encoded by sORFs may form the basis of a hitherto unknown regulatory network. Current research projects include:

  • Discovery of sORFs and their encoded sPEPs using proteogenomic approaches (with Ross Smith & Amanda Nowens)
  • Characterisation of novel bioactive peptides encoded by sORFs in mammalian cells and tissues
  • Characterisation of novel bioactive peptides from plants and fungi (with Bernie Carroll & James Fraser)
  • Development of bioinformatic tools to discover and characterise sORFs (with Scott Beatson)

Paper: Green fluorescent protein as a reporter in translational assays

Development of the next generation of gene expression systems

A second focus of this laboratory is directed towards the development of new eukaryotic expression vectors. We are investigating the role of post-transcriptional mechanisms in gene expression. This work has led to the development of short cis-acting sequences based on small upstream open reading frames (uORFs) that can be used to modulate gene expression; known as GeneDimmerTM and GeneBooster respectively. Both GeneDimmerTM and GeneBooster expression vectors will ultimately be used in cell biology, gene therapy and agriculture. Current research projects include:

  • Development of second generation GeneDimmerTM vectors and their characterisation in mammalian cell lines
  • Development of plant-specific GeneDimmerTM vectors and their characterisation in transgenic plants (with Bernie Carroll)

Paper: 5′-Untranslated regions with multiple upstream AUG codons can support low-level translation via leaky scanning and reinitiation

Molecular genetics and cellular biology of the integument

We maintain an interest in cutaneous biology and are studying the contribution of individual genes and proteins to skin development, differentiation and maintenance. Our research into the molecular mechanisms that regulate these processes is ultimately aimed at improving the treatment of inherited and acquired skin diseases such as eczema, psoriasis, cancer and accidental trauma such as burns, using gene and stem cell therapies. The skin also serves as an important model for other epithelia such as the gut, oral cavity, breast and prostate. Current research projects include:

  • Analysis of polymorphisms in key skin and hair genes and their contribution to phenotype
  • The characterisation of RNA-binding proteins (with Ross Smith)

Paper: The mouse keratin 6 isoforms are differentially expressed in the hair follicle, footpad, tongue and activated epidermis

Funded projects

  • UWA-UQ Bilateral Research Collaboration Award 2013, Development of a nucleolus-homing peptide for targeting RNA-therapeutics in gene therapy, Total value of grant: $19,300
  • NHMRC Project Grant 2010-2012, The contribution of upstream open reading frames to the eukaryotic proteome, Total value of grant: $192,500
  • National Rosacea Society 2009-2010, The role of tissue kallikreins in Rosacea, Total value of grant: $21,934

Teaching interests

Cell biology, developmental biology, medical genetics and molecular biology.

Achievements and awards 

  • Dermatology Foundation Career Development Award (1994)
  • NIH R29 ‘FIRST’ Award (1994)
  • Wellcome Senior Research Fellowship in Medical Science (1996)
  • Board member of The Australasian Society of Dermatological Research (from 2003)
  • Board member of Australasian Wound and Tissue Repair Society (2007 - 2014)
  • Member of the Scientific Research Committee of the Australasian College of Dermatologists (from 2010)
  • Convenor and Co-chair of the Straddie Cutaneous Biology meetings (2002, 2006 & 2014)
  • ComBio2016 Conference Chair
  • President-elect (2017 - 2019) The Australasian Society of Dermatological Research

sORF & sPEP resources

Featured publications

Publications

Book Chapter (1)
Journal Articles (83)
Conference Papers (48)
Patent (1)

Book Chapter

Presland, R. B., Rothnagel, J. A. and Lawrence, O. T. (2006). Profilaggrin and the fused S100 family of calcium-binding proteins. Skin Barrier. (pp. 111-140) edited by P. M. Elias and K. M. Feingold. New York: Taylor & Francis.

Journal Articles

Rothnagel, Joseph, Gowda, Harsha and Menschaert, Gerben (2022). Editorial: sORF Encoded Peptides in Health and Disease. Frontiers in Genetics, 13 878014, 878014. doi: 10.3389/fgene.2022.878014
Erpf, Paige E., Chua, Sheena M.H., Phung, Toan K., Kerr, Edward D., Rothnagel, Joseph A., Schulz, Benjamin L. and Fraser, James A. (2022). Identification and characterisation of sPEPs in Cryptococcus neoformans. Fungal Genetics and Biology, 160 103688, 103688. doi: 10.1016/j.fgb.2022.103688
Jiang, Jiayue-Clara, Rothnagel, Joseph A. and Upton, Kyle R. (2021). Widespread exaptation of L1 transposons for transcription factor binding in breast cancer. International Journal of Molecular Sciences, 22 (11) 5625, 1-21. doi: 10.3390/ijms22115625
Jiang, Jiayue-Clara, Rothnagel, Joseph A. and Upton, Kyle R. (2021). Integrated transcription factor profiling with transcriptome analysis identifies L1PA2 transposons as global regulatory modulators in a breast cancer model. Scientific Reports, 11 (1) 8083, 8083. doi: 10.1038/s41598-021-86395-9
Rothnagel, Joseph and Menschaert, Gerben (2018). Erratum to: Short Open Reading Frames and Their Encoded Peptides (PROTEOMICS, (2018), 18, 10, (1700035), 10.1002/pmic.201700035). Proteomics, 18 (15) 1870117, 1870117. doi: 10.1002/pmic.201870117
Rothnagel, Joseph and Menschaert, Gerben (2018). Short open reading frames and their encoded peptides. Proteomics, 18 (10) 1700035, 1700035. doi: 10.1002/pmic.201700035
Lukowski, Samuel W., Rothnagel, Joseph A. and Trezise, Ann E. O. (2014). CFTR mRNA expression is regulated by an upstream open reading frame and RNA secondary structure in its 5' untranslated region. Human Molecular Genetics, 24 (4) ddu501, 899-912. doi: 10.1093/hmg/ddu501
Andrews, Shea J. and Rothnagel, Joseph A. (2014). Emerging evidence for functional peptides encoded by short open reading frames (vol 15, pg 193, 2014). Nature Reviews Genetics, 15 (4)
Andrews, Shea J. and Rothnagel, Joseph A. (2014). Emerging evidence for functional peptides encoded by short open reading frames. Nature Reviews: Genetics, 15 (3), 193-204. doi: 10.1038/nrg3520
Skarshewski, Adam, Stanton-Cook, Mitchell, Huber, Thomas, Al Mansoori, Sumaya, Smith, Ross, Beatson, Scott A. and Rothnagel, Joseph A. (2014). uPEPperoni: an online tool for upstream open reading frame location and analysis of transcript conservation. BMC Bioinformatics, 15 (36) 36, 1-6. doi: 10.1186/1471-2105-15-36
Friend, Lexie R., Landsberg, Michael J., Nouwens, Amanda S., Wei, Ying, Rothnagel, Joseph A. and Smith, Ross (2013). Arginine methylation of hnRNP A2 does not directly govern its subcellular localization. PLoS One, 8 (9) e75669, e75669.1-e75669.12. doi: 10.1371/journal.pone.0075669
Tang, Yue Hang, Han, Siew Ping, Kassahn, Karin S., Skarshewski, Adam, Rothnagel, Joseph A. and Smith, Ross (2012). Complex evolutionary relationships among four classes of modular RNA-binding splicing regulators in eukaryotes: the hnRNP, SR, ELAV-Like and CELF proteins. Journal of Molecular Evolution, 75 (5-6), 214-228. doi: 10.1007/s00239-012-9533-0
Hofmeister, Wolfgang, Devine, Christine A., Rothnagel, Joseph A. and Key, Brian (2012). Frizzled-3a and slit2 genetically interact to modulate midline axon crossing in the telencephalon. Mechanisms of Development, 129 (5-8), 109-124. doi: 10.1016/j.mod.2012.05.004
Lauridsen, Lasse H., Rothnagel, Joseph A. and Veedu, Rakesh N. (2012). Enzymatic recognition of 2'-modified ribonucleoside 5'-triphosphates: Towards the evolution of versatile aptamers. ChemBioChem, 13 (1), 19-25. doi: 10.1002/cbic.201100648
Christie, Michael, Brosnan, Christopher A., Rothnagel, Joseph A. and Carroll, Bernard J. (2011). RNA decay and RNA silencing in plants: Competition or collaboration?. Frontiers in Plant Science, 2 (DEC) 99, 99.1-99.7. doi: 10.3389/fpls.2011.00099
Han, Siew Ping, Kassahn, Karin S., Skarshewski, Adam, Ragan, Mark A., Rothnagel, Joseph A. and Smith, Ross (2010). Functional implications of the emergence of alternative splicing in hnRNP A/B transcripts. RNA, 16 (9), 1760-1768. doi: 10.1261/rna.2142810
Han, Siew Ping, Friend, Lexie R., Carson, John H., Korza, George, Barbarese, Elisa, Maggipinto, Michael, Hatfield, Jodie T., Rothnagel, Joseph A. and Smith, Ross (2010). Differential subcellular distributions and trafficking functions of hnRNP A2/B1 spliceoforms. Traffic, 11 (7), 886-898. doi: 10.1111/j.1600-0854.2010.01072.x
Pettigrew, C. A., French, J. D., Saunus, J. M., Edwards, S. L., Sauer, A. V., Smart, C. E., Lundstrom, H. T., Wiesner, C., Spurdle, A. B., Rothnagel, J. A. and Brown, M. A. (2010). Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Breast Cancer Research and Treatment, 119 (1), 239-247. doi: 10.1007/s10549-008-0256-2
He, Yaowu, Rothnagel, Joseph A., Epis, Michael R., Leedman, Peter J. and Smith, Ross (2009). Downstream targets of heterogeneous nuclear ribonucleoprotein A2 mediate cell proliferation. Molecular Carcinogenesis, 48 (2), 167-179. doi: 10.1002/mc.20467
Smart, Chanel E., Clarke, Catherine, Brooks, Kelly M., Raghavendra, Ashwini, Brewster, Brooke L., French, Juliet D., Hetherington, Rehan, Fleming, Jean S., Rothnagel, Joseph A., Wainwright, Brandon, Lakhani, Sunil R. and Brown, Melissa A. (2008). Targeted disruption of Brca1 in restricted compartments of the mouse mammary epithelia. Breast Cancer Research and Treatment, 112 (2), 237-241. doi: 10.1007/s10549-007-9859-2
Friend, Lexie R., Han, Siew Ping, Rothnagel, Joseph A. and Smith, Ross (2008). Differential subnuclear localisation of hnRNPs A/B is dependent on transcription and cell cycle stage. Biochimica et Biophysica Acta - Molecular Cell Research, 1783 (10), 1972-1980. doi: 10.1016/j.bbamcr.2008.05.021
Wang, Xue-Qing, Hayes, Mark T., Kempf, Margit, Fraser, John F., Liu, Pei-Yun, Cuttle, Leila, Friend, Lexie R. Robyn, Rothnagel, Joseph A., Saunders, Nicholas A. and Kimble, Roy M. (2008). Fetuin-A: A Major Fetal Serum Protein that Promotes "Wound Closure" and Scarless Healing (Letter to the editor). Journal of Investigative Dermatology, 128 (3), 753-757. doi: 10.1038/sj.jid.5701119
Crowe, Mark L., Wang, Xue-Qing and Rothnagel, Joseph A. (2006). Evidence for conservation and selection of upstream open reading frames suggests probable encoding of bioactive peptides. BMC genomics, 7 (16) 16, 16. doi: 10.1186/1471-2164-7-16
He, Y. W., Brown, M. A., Rothnagel, J. A., Saunders, N. A. and Smith, R. (2005). Roles of heterogeneous nuclear ribonucleoproteins A and B in cell proliferation. Journal of Cell Science, 118 (14), 3173-3183. doi: 10.1242/jcs.02448
Wang, X. Q., Hadwen, T. I. and Rothnagel, J. A. (2005). Green fluorescent protein as a reporter in translational assays. Analytical Biochemistry, 336 (1), 135-137. doi: 10.1016/j.ab.2004.09.007
Gangnuss, Samantha, Cowin, Allison J., Daehn, Ilse S., Hatzirodos, Nick, Rothnagel, Joseph A., Varelias, Antiopi and Rayner, Timothy E. (2004). Regulation of MAPK activation, AP-1 transcription factor expression and keratinocyte differentiation in wounded fetal skin. Journal of Investigative Dermatology, 122 (3), 791-804. doi: 10.1111/j.0022-202X.2004.22319.x
He, Y., Brown, M. A., Rothnagel, J. A., Saunders, N. A. and Smith, R. (2004). Roles of heterogeneous nuclear ribonucleoproteins A/B in cell growth. Molecular Biology of The Cell, 15, 252A-253A.
Smyth, Ian, Ellis, Tammy, Hetherington, Rehan, Riley, Emily, Narang, Monica, Mahony, Donna, Wicking, Carol, Rothnagel, Joseph A. and Wainwright, Brandon J. (2004). Krt6a-Cre transgenic mice direct LoxP-mediated recombination to the companion cell layer of the hair follicle and following induction by retinoic acid to the interfollicular epidermis. Journal of Investigative Dermatology, 122 (1), 232-234. doi: 10.1046/j.0022-202X.2003.22122.x
Wang, X. Q. and Rothnagel, J. A. (2004). 5 '-Untranslated regions with multiple upstream AUG codons can support low-level translation via leaky scanning and reinitiation. Nucleic Acids Research, 32 (4), 1382-1391. doi: 10.1093/nar/gkh305
Listwan, Pawel and Rothnagel, Joseph A. (2004). Keratin bundling proteins. Methods in Cell Biology, 78: Intermediate Filament Cytoskeleton (12), 817-827. doi: 10.1016/S0091-679X(04)78028-0
McCart, A. E., Mahony, D. and Rothnagel, J. A. (2003). Alternatively spliced products of the human kinesin light chain 1 (KNS2) gene. Traffic, 4 (8), 576-580. doi: 10.1034/j.1600-0854.2003.00113.x
Ellis, Tammy, Smyth, Ian, Riley, Emily, Bowles, Josephine, Adolphe, Christelle, Rothnagel, Joseph A., Wicking, Carol and Wainwright, Brandon J. (2003). Overexpression of sonic hedgehog suppresses embryonic hair follicle morphogenesis. Developmental Biology, 263 (2), 203-215. doi: 10.1016/S0012-1606(03)00394-4
Zhang, D., Karunaratne, S., Kessler, M., Mahony, D. and Rothnagel, J. A. (2002). Characterization of mouse profilaggrin: Evidence for nuclear engulfment and translocation of the profilaggrin B-domain during epidermal differentiation. Journal of Investigative Dermatology, 119 (4), 905-912. doi: 10.1046/j.1523-1747.2002.00133.x
Dicker, Anthony J., Serewko, Magdalena M., Russell, Terry, Rothnagel, Joseph A., Strutton, Geoff M., Dahler, Alison L. and Saunders, Nicholas A. (2002). Isolation (from a basal cell carcinoma) of a functionally distinct fibroblast-like cell type that overexpresses Ptch. Journal of Investigative Dermatology, 118 (5), 859-865. doi: 10.1046/j.1523-1747.2002.01739.x
Nawshad, A. I., Young, W., Rothnagel, J. A. and Savage, N. W. (2002). Cytokeratin profile of odontogenic epithelia and odontogenic keratocyst. Australian Dental Journal, 47 (4), S16-S17.
Riley, N. E., Li, J., Worrall, S., Rothnagel, J. A., Swagell, C., van Leeuwen, F. W. and French, S. W. (2002). The Mallory body as an aggresome: In vitro studies. Experimental and Molecular Pathology, 72 (1), 17-23. doi: 10.1006/exmp.2001.2413
Mahony, D., Karunaratne, S. and Rothnagel, J. A. (2002). Improved detection of lacZ reporter gene expression in transgenic epithelia by immunofluorescence microscopy. Experimental Dermatology, 11 (2), 153-158. doi: 10.1034/j.1600-0625.2002.110207.x
Hatfield, J. T., Rothnagel, J. A. and Smith, R. (2002). Characterization of the mouse hnRNP A2/B1/B0 gene and identification of processed pseudogenes. Gene, 295 (1), 33-42. doi: 10.1016/S0378-1119(02)00800-4
Hung, Betsy S., Wang, Xue-Qing, Cam, Graham R. and Rothnagel, Joseph A. (2001). Characterization of mouse Frizzled-3 expression in hair follicle development and identification of the human homolog in keratinocytes. Journal of Investigative Dermatology, 116 (6), 940-946. doi: 10.1046/j.1523-1747.2001.01336.x
Wang, X. Q. and Rothnagel, J. A. (2001). Post-transcriptional regulation of the GLI1 oncogene by the expression of alternative 5 ' untranslated regions. Journal of Biological Chemistry, 276 (2), 1311-1316. doi: 10.1074/jbc.M005191200
Arin, M. J., Longley, M. A., Epstein, E. H., Rothnagel, J. A. and Roop, D. R. (2000). Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. Experimental Dermatology, 9 (1), 16-19. doi: 10.1034/j.1600-0625.2000.009001016.x
Wang, XQ, Chan, N and Rothnagel, JA (2000). Identification of polymorphic variants of the Gli1 oncogene. Journal of Investigative Dermatology, 115 (2), 328-329. doi: 10.1046/j.1523-1747.2000.00065.x
Mahony, D., Karunaratne, S. M., Cam, G. and Rothnagel, J. A. (2000). Analysis of Mouse Keratin 6a Regulatory Sequences in Transgenic Mice Reveals Constitutive, Tissue-Specific Expression by a Keratin 6a Minigene. Journal of Investigative Dermatology, 115 (5), 795-804. doi: 10.1046/j.1523-1747.2000.00132.x
Wojcik, Sonja M., Imakado, Sumihisa, Seki, Toshihiko, Longley, Mary A., Petherbridge, L., Bundman, Donnie S., Bickenbach, Jackie R., Rothnagel, Joseph A. and Roop, D. R. (1999). Expression of MK6a dominant-negative and C-terminal mutant transgenes has distinct phenotypic consequences in the epidermis and hair-follicle. Differentiation, 65 (2), 97-112. doi: 10.1046/j.1432-0436.1999.6520097.x
DiSepio, D., Bickenbach, J. R., Longley, M. A., Bundman, D. S., Rothnagel, J. A. and Roop, D. R. (1999). Characterization of loricrin regulation in vitro and in transgenic mice. Differentiation, 64 (4), 225-235. doi: 10.1046/j.1432-0436.1999.6440225.x
Arin, M. J., Longley, M. A., Epstein, E. H., Scott, G., Goldsmith, L. A., Rothnagel, J. A. and Roop, D. R. (1999). A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. Journal of Investigative Dermatology, 112 (3), 380-382. doi: 10.1046/j.1523-1747.1999.00529.x
Arin, M. J., Longley, M. A., Kuster, W., Huber, M., Hohl, D., Rothnagel, J. A. and Roop, D. R. (1999). An aspatagine to threonine substitution in the 1A domain of keratin 1: A novel mutation that causes epidermolytic hyperkeratosis. Experimental Dermatology, 8 (2), 124-127. doi: 10.1111/j.1600-0625.1999.tb00359.x
Smyth, I, Bowles, J, Rothnagel, J, Wicking, C and Wainwright, B (1999). Ectopic expression of Sonic Hedgehog from the human Keratin 1 promoter gives rise to limb abnormalities and skin lesions in transgenic mice.. American Journal of Human Genetics, 65 (4), A371-A371.
Arin, M. J., Longley, M. A., Anton-Lamprecht, I., Kurze, G., Huber, M., Hohl, D., Rothnagel, J. A. and Roop, D. R. (1999). A novel substitution in keratin 10 in epidermolytic hyperkeratosis. Journal of Investigative Dermatology, 112 (4), 506-508. doi: 10.1046/j.1523-1747.1999.00557.x
Rothnagel, JA, Seki, T, Ogo, M, Longley, MA, Wojcik, SM, Bundman, DS, Bickenbach, JR and Roop, DR (1999). The mouse keratin 6 isoforms are differentially expressed in the hair follicle, footpad, tongue and activated epidermis. Differentiation, 65 (2), 119-130. doi: 10.1046/j.1432-0436.1999.6520119.x
Rothnagel, J. A., Lin, M. T. S., Longley, M. A., Holder, R. A., Hazen, P. G., Levy, M. L. and Roop, D. R. (1998). Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. Prenatal Diagnosis, 18 (8), 826-830. doi: 10.1002/(SICI)1097-0223(199808)18:8<826::AID-PD360>3.0.CO;2-5
Galligan, P and Rothnagel, JA (1998). A novel mutation in the L12 domain of keratin 5 in the weber-cockayne variant of epidermolysis bullosa simplex.. Journal of Investigative Dermatology, 110 (4), 616-616.
Galligan, P, Listwan, P, Siller, GM and Rothnagel, JA (1998). A novel mutation in the L12 domain of keratin 5 in the Kobner variant of epidermolysis bullosa simplex. Journal of Investigative Dermatology, 111 (3), 524-527. doi: 10.1046/j.1523-1747.1998.00308.x
Joh, G. Y., Traupe, H., Metze, D., Nashan, D., Huber, M., Hohl, D., Longley, M. A., Rothnagel, J. A. and Roop, D. R. (1997). A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. Journal of Investigative Dermatology, 108 (3), 357-361. doi: 10.1111/1523-1747.ep12286491
Bickenbach, JR, Longley, MA, Bundman, DS, Dominey, AM, Bowden, PE, Rothnagel, JA and Roop, DR (1996). A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis. Differentiation, 61 (2), 129-139. doi: 10.1046/j.1432-0436.1996.6120129.x
Bowden, P. E., Haley, J. L., Kansky, A., Rothnagel, J. A., Jones, D. O. and Turner, R. J. (1995). Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nature Genetics, 10 (3), 363-365. doi: 10.1038/ng0795-363
DiSepio, D., Jones, A., Longley, M. A., Bundman, D., Rothnagel, J. A. and Roop, D. R. (1995). The proximal promoter of the mouse loricrin gene contains a functional AP- 1 element and directs keratinocyte-specific but not differentiation-specific expression. Journal of Biological Chemistry, 270 (18), 10792-10799. doi: 10.1074/jbc.270.18.10792
Rothnagel, J. A., Wojcik, S., Liefer, K. M., Dominey, A. M., Huber, M., Hohl, D. and Roop, D. R. (1995). Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. Journal of Investigative Dermatology, 104 (3), 430-433. doi: 10.1111/1523-1747.ep12666018
Bickenbach, J. R., Greer, J. M., Bundman, D. S., Rothnagel, J. A. and Roop, D. R. (1995). Loricrin Expression Is Coordinated with Other Epidermal Proteins and the Appearance of Lipid Lamellar Grannies in Development. Journal of Investigative Dermatology, 104 (3), 405-410. doi: 10.1111/1523-1747.ep12665896
Imakado, S., Bickenbach, J. R., Bundman, D. S., Rothnagel, J. A., Attar, P. S., Wang, X. J., Walczak, V. R., Wisniewski, S., Pote, J., Gordon, J. S., Heyman, R. A., Evans, R. M. and Roop, D. R. (1995). Targeting expression of a dominant-negative retinoic acid receptor mutant in the epidermis of transgenic mice results in loss of barrier function. Genes and Development, 9 (3), 317-329. doi: 10.1101/gad.9.3.317
Rothnagel, Joseph A., Longley, Mary A., Bundman, Donnie S., Naylor, Susan L., Lalley, Peter A., Jenkins, Nancy A., Gilbert, Debra J., Copeland, Neal G. and Roop, Dennis R. (1994). Characterization of the mouse loricrin gene - Linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome-3. Genomics, 23 (2), 450-456. doi: 10.1006/geno.1994.1522
Rothnagel, J. A., Traupe, H., Wojcik, S., Huber, M., Hohl, D., Pittelkow, M. R., Saeki, H., Ishibashi, Y. and Roop, D. R. (1994). Mutations in the Rod Domain of Keratin 2E in Patients with Ichthyosis Bullosa of Siemens. Nature Genetics, 7 (4), 485-490. doi: 10.1038/ng0894-485
Brown, L. J., Geesin, J. C., Rothnagel, J. A., Roop, D. R. and Gordon, J. S. (1994). Retinoic acid suppression of loricrin expression in reconstituted human skin cultured at the liquid-air interface. Journal of Investigative Dermatology, 102 (6), 886-890. doi: 10.1111/1523-1747.ep12382905
Greenhalgh, D. A., Wang, X. J., Rothnagel, J. A., Eckhardt, J. N., Quintanilla, M. I., Barber, J. L., Bundman, D. S., Longley, M. A., Schlegel, R. and Roop, D. R. (1994). Transgenic mice expressing targeted HPV-18 E6 and E7 oncogenes in the epidermis develop verrucous lesions and spontaneous, ras(Ha)-activated papillomas. Cell Growth & Differentiation, 5 (6), 667-675.
Huber, M., Scaletta, C., Benathan, M., Frenk, E., Greenhalgh, D. A., Rothnagel, J. A., Roop, D. R. and Hohl, D. (1994). Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. Journal of Investigative Dermatology, 102 (5), 691-694. doi: 10.1111/1523-1747.ep12374270
Wang, X. J., Greenhalgh, D. A., Eckhardt, J. N., Rothnagel, J. A. and Roop, D. R. (1994). Epidermal expression of transforming growth factor-α in transgenic mice: Induction of spontaneous and 12-O-tetradecanoylphorbol-13-acetate-induced papillomas via a mechanism independent of Ha-ras activation or overexpression. Molecular Carcinogenesis, 10 (1), 15-22. doi: 10.1002/mc.2940100104
Lu, B., Rothnagel, J. A., Longley, M. A., Tsai, S. Y. and Roop, D. R. (1994). Differentiation-specific expression of human keratin 1 is mediated by a composite AP-1/steroid hormone element. Journal of Biological Chemistry, 269 (10), 7443-7449.
Rothnagel, J. A., Longley, M. A., Holder, R. A., Kuster, W. and Roop, D. R. (1994). Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. Journal of Investigative Dermatology, 102 (1), 13-16. doi: 10.1111/1523-1747.ep12371723
Dominey, A. M., Wang, X. J., King, L. E., Nanney, L. B., Gagne, T. A., Sellheyer, K., Bundman, D. S., Longley, M. A., Rothnagel, J. A., Greenhalgh, D. A. and Roop, D. R. (1993). Targeted Overexpression of Transforming Growth-Factor-Alpha in the Epidermis of Transgenic Mice Elicits Hyperplasia, Hyperkeratosis, and Spontaneous, Squamous Papillomas. Cell Growth & Differentiation, 4 (12), 1071-1082.
Rothnagel, J. A., Fisher, M. P., Axtell, S. M., Pittelkow, M. R., Antonlamprecht, I., Huber, M., Hohl, D. and Roop, D. R. (1993). A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Human Molecular Genetics, 2 (12), 2147-2150. doi: 10.1093/hmg/2.12.2147
Rothnagel, Joseph A., Greenhalgh, David A., Wang, Xiao-Jing, Sellheyer, Klaus, Bickenbach, Jackie R., Dominey, Andrea M. and Roop, Dennis R. (1993). Transgenic models of skin diseases. Archives of Dermatology, 129 (11), 1430-1436. doi: 10.1001/archderm.129.11.1430
Greenhalgh, D. A., Quintanilla, M. I., Orengo, C. C., Barber, J. L., Eckhardt, J. N., Rothnagel, J. A. and Roop, D. R. (1993). Cooperation between v-fos and v-ras(HA) induces autonomous papillomas in transgenic epidermis but not malignant conversion. Cancer Research, 53 (21), 5071-5075.
Rothnagel, J. A., Greenhalgh, D. A., Gagne, T. A., Longley, M. A. and Roop, D. R. (1993). Identification of a calcium-inducible, epidermal-specific regulatory element in the 3'-flanking region of the human keratin 1 gene. Journal of Investigative Dermatology, 101 (4), 506-513. doi: 10.1111/1523-1747.ep12365886
Greenhalgh, D. A., Rothnagel, J. A., Wang, X. J., Quintanilla, M. I., Orengo, C. C., Gagne, T. A., Bundman, D. S., Longley, M. A., Fisher, C. and Roop, D. R. (1993). Hyperplasia, Hyperkeratosis and Benign-Tumor Production in Transgenic Mice by a Targeted V-Fos Oncogene Suggest a Role for Fos in Epidermal Differentiation and Neoplasia. Oncogene, 8 (8), 2145-2157.
Sellheyer, K., Bickenbach, J. R., Rothnagel, J. A., Bundman, D., Longley, M. A., Krieg, T., Roche, N. S., Roberts, A. B. and Roop, D. R. (1993). Inhibition of skin development by overexpression of transforming growth factor β 1 in the epidermis of transgenic mice. Proceedings of the National Academy of Sciences of the United States of America, 90 (11), 5237-5241. doi: 10.1073/pnas.90.11.5237
Greenhalgh, D. A., Rothnagel, J. A., Quintanilla, M. I., Orengo, C. C., Gagne, T. A., Bundman, D. S., Longley, M. A. and Roop, D. R. (1993). Induction of epidermal hyperplasia, hyperkeratosis, and papillomas in transgenic mice by a targeted v-Ha-ras oncogene. Molecular Carcinogenesis, 7 (2), 99-110. doi: 10.1002/mc.2940070208
Rothnagel, J. A., Dominey, A. M., Dempsey, L. D., Longley, M. A., Greenhalgh, D. A., Gagne, T. A., Huber, M., Frenk, E., Hohl, D. and Roop, D. R. (1992). Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science, 257 (5073), 1128-1130. doi: 10.1126/science.257.5073.1128
Mehrel, T., Hohl, D., Rothnagel, J. A., Longley, M. A., Bundman, D., Cheng, C., Lichti, U., Bisher, M. E., Steven, A. C., Steinert, P. M., Yuspa, S. H. and Roop, D. R. (1990). Identification of a major keratinocyte cell envelope protein, loricrin. Cell, 61 (6), 1103-1112. doi: 10.1016/0092-8674(90)90073-N
Rothnagel, J. A. and Steinert, P. M. (1990). The structure of the gene for mouse filaggrin and a comparison of the repeating units. Journal of Biological Chemistry, 265 (4), 1862-1865.
Rothnagel, J. A., Mehrel, T., Idler, W. W., Roop, D. R. and Steinert, P. M. (1987). The gene for mouse epidermal filaggrin precursor. Its partial characterization, expression, and sequence of a repeating filaggrin unit. Journal of Biological Chemistry, 262 (32), 15643-15648.
Rothnagel, J. A. and Rogers, G. E. (1986). Trichohyalin, an intermediate filament-associated protein of the hair follicle. Journal of Cell Biology, 102 (4), 1419-1429. doi: 10.1083/jcb.102.4.1419
Rothnagel, J. A. and Rogers, G. E. (1984). Transglutaminase-mediated cross-linking in mammalian epidermis. Molecular and Cellular Biochemistry, 58 (1-2), 113-119. doi: 10.1007/BF00240610
Rothnagel, J. A. and Rogers, G. E. (1984). Citrulline in proteins from the enzymatic deimination of arginine residues. Methods in Enzymology, 107 (C), 624-631. doi: 10.1016/0076-6879(84)07046-4

Conference Papers

Friend, L., Hillman, K., Skarshewski, A., Al Mansoori, S., Ng, W. N., Nouwens, A., Smith, R. and Rothnegal, J. A. (2011). Identification and characterisation of putative bioactive peptides encoded by upstream open reading frames. ComBio 2011, Cairns, Australia, 25-29 September 2011.
Friend, Lexie, Hillman, K., Skarshewski, A., Wang, X-Q., Al Mansoori, S., Nouwens, A., Smith, R. and Rothnagel, J. (2011). The extracurricular activities of upstream open reading frames. The East Coast Protein Meeting (ECPM, 2011), Coffs Harbour, NSW, Australia, 15-17 July 2011.
Toki, N., Nouwens, A., Friend, L., Smith, R. and Rothnagel, J. (2011). A proteomic approach to the identification of zebrafish hnRNP A/B proteins. The East Coast Protein Meeting, Coffs Harbour, 15-17 July 2011.
Friend, Lexie, Landsberg, Michael, Nouwens, Amanda, Rothnagel, J., Smith, R. and Toki, Naoko (2010). Mass spectrometric detection of differential methylation of hnRNP A2/B1 paralogs in neuronal cells and cell lines. Human Proteome World Congress (HUPO 2010), Darling Harbour Convention Centre, Sydney, Australia, 19 - 23 September 2010.
Siew Ping Han, Rothnagel, J.A. and Smith, R. (2009). Evolutionary divergence of hnRNPs A/B and functional implications. FAOBMB, Shanghai, China, May, 2009.
Tang, Y.H., Han, S.P., Kassahn, K., Friend, L.R., Rothnagel, J.A. and Smith, R. (2009). Phylogenetic relationships between the RRMs of hnRNP proteins and other RNA-binding proteins. Combio 2009, Christchurch, New Zealand, 6-10 Dec, 2009.
Han, S.P., Friend, L.R., Rothnagel, J.A. and Smith, R.. (2009). Isoform-specific expression and subcellular distribution of hnRNP A2/B1. Combio 2009, Christchurch, New Zealand., 6-10 Dec, 2009.
Rothnagel, J.A. (2008). Characterisation of human FLG2: A new player in the epidermal barrier. Australasian Wound and Tissue Repair Society Meeting, Darwin, Australia, 6-7 May, 2008.
Brewster, Brooke, Brooks, Kelly, Brown, Melissa Anne, Clarke, C., Fleming, J. S., French, J. D., Hetherington, Rehan, Lakhani, Sunil, Raghavendra, Ashwini, Rothnagel, Joseph, Smart, Chanel and Wainwright, Brandon (2007). Targeted disruption of Brca1 in restricted compartments of the mouse mammary epithelia. Gordon Research Conference: Mammary Gland Biology, Newport, RI, 10-15 June 2007.
Brewster, Brooke, Brooke, Kelly, Brown, Melissa Anne, Clarke, C., Fleming, J. S., French, J. D., Hetherington, Rehan, Lakhani, Sunil, Raghavendra, Ashwini, Rothnagel, Joseph, Smart, Chanel and Wainwright, Brandon (2007). Targeted disruption of Brca1 in restricted compartments of the mouse mammary epithelia. kConFab Familial Breast Cancer Conference, Couran Cove, Queensland, 21-24 August 2007.
Friend, L. R., Hatfield, J. T., Dunphy, J. L., Barbarese, E., Carson, J., Korza, G., Rothnagel, J. A. and Smith, R. (2007). The role of hnRNP A2/B1 isoforms in RNA trafficking. 2007 EMBO Workshop on Intracellular RNA Localization and Localized Translation, Castelvecchio Pascoli, Italy, 1-6 July 2007.
Smart, C. E., Clarke, C., Brooks, K. M., Raghavendra, A., Brewster, B. L., French, J. D., Hetherington, R., Fleming, J. S., Rothnagel, J. A., Wainwright, B., Lakhani, S. R. and Brown, M. A. (2007). Targeted disruption of Brca1 in restricted compartments of the mouse mammary epithelia. Australian Breast Cancer Conference, Melbourne, Australia, 2007.
He, Y., Epis, M. R., Rothnagel, J. A., Leedman, P. J. and Smith, R. W. (2006). The downstream targets of hnRNP A2 proteins in squamous cell carcinoma cells. ComBio 2006, Brisbane, Australia, 25-28 Sept, 2006. Kent Town, S.A., Australia: Australian Society for Biochemistry and Molecular Biology.
Wei, Y., Rothnagel, J. A. and Smith, R. W. (2006). The role of hnRNP A3 isoforms in RNA trafficking. ComBio 2006, Brisbane, Australia, 25-28 Sept, 2006. Kent Town, S.A., Australia: Australian Society for Biochemistry and Molecular Biology.
Friend, L. R., Rothnagel, J. A. and Smith, R. W. (2006). Nuclear hnRNP proteins are localised in splicesomes. ComBio 2006, Brisbane, Australia, 25-28 Sept, 2006. Kent Town, S.A., Australia: Australian Society for Biochemistry and Molecular Biology.
He, Y., Epis, M. R., Rothnagel, J. A., Leedman, P. J. and Smith, R. W. (2006). hnRNPs A2/B1: A different splice for a different life?. ComBio 2006, Brisbane, Australia, 25-28 Sept, 2006. Kent Town, S.A., Australia: Australian Society for Biochemistry and Molecular Biology.
Listwan, P. and Rothnagel, J. A. (2005). Identification of the human homolog to FLG2: A filaggrin-like gene that is expressed late in epidermal differentiation. 35th Annual European Society for Dermatological Research (ESDR) Meeting, Tübingen, Germany, 22–24 September 2005. Baltimore: BLACKWELL PUBLISHING. doi: 10.1111/j.0022-202X.2005.23901.x
Smart, C. E., Simpson, K. J., Manning, N. W., Karunaratne, S. M., Edwards, S., Yap, A. S. K., Rothnagel, J. A., Visvader, J. E., Lindeman, G. J. and Brown, M. A. (2005). Altered cytokeratin and vimentin expression in mammary epithelial cells with disrupted BRCA1 function. Familial Cancer 2005: Research and Practice, Couran Cove, 30 Aug - 3 Sept, 2005.
McCart, Amy, Mahony, Donna and Rothnagel, Joseph (2004). Alternative splicing of KNS2 (Kinesin Light Chain 1). 25th Annual Lorne Conference on the Organization and Expression of the Genome, Lorne, VIC, Australia, 15-19 February 2004.
McCart, Amy, Mahony, Donna and Rothnagel, Joseph (2003). Alternative splicing of Kinesin Light Chain 1 (KNS2). ComBio 2003, Melbourme, VIC, Australia, 28 September - 2 October 2003.
McCart, Amy, Mahony Donna and Rothnagel Joseph (2002). Alternative splicing of kinesin light chain 1 (KNS2) gene. Boden Conference Developmental Cutaneous Biology, Stradbroke Island, Australia, 14-18 April 2002. St Lucia QLD, Australia: The Uniiversity of Queensland.
Rothnagel, J. A., Beesley, J. M., Ross, I. L. and Wang, X. Q. (2002). Regulation of alternative splicing of GL11 in normal tissues and in cancer. ComBio 2002, Sydney, 29 September - 3 October, 2002.
Friend, L. and Rothnagel, J. A. (2002). Photobleaching techniques reveal a novel characteristic of the type II keratin 5 head domain. ComBio 2002, Sydney, Australia, 29 September - 3 October, 2002. Sydney , Australia: Australasian Plant Pathology Society.
Rothnagel, J. A., Listwan, P., Karunaratne, S. M. and Zhang, D. (2002). Characterisation of a novel gene with filaggrin-like repeats that is expressed late in epidermal differentiation. The Society of Investigative Dermatology Meeting, Los Angeles, May 2002.
Hatfield, J. T., Rothnagel, J. A. and Smith, R. W. (2002). Characterisation of the mouse HNRNP A2/B1/B0 gene and identification of processed pseudogenes. ComBio 2002, Sydney, 29 September - 3 October, 2002.
Rothnagel, J. A. (2002). Defining the roles of intermediate filament and domain sequences: Identification of a conserved region that mediates cytoplasmic localisation of intermediate filament. Wellcome Trust 1st International Snr Fellows Meeting, London, 27 April - 1 May, 2002.
Rothnagel, J. A. (2001). Skin development, epidermal differentiation and keratin disorders. Combio 2001, Canberra, 1-4 Oct, 2001.
Friend, L. and Rothnagel, J. A. (2000). A conserved region of type II keratins mediates cytoplasmic tethering and transport of intermediate filament precursors. Oxford, UK, 30 July-4 August, 2000.
Listwan, P., Karunaratne, S. M., Zhang, D. and Rothnagel, J. A. (2000). Characterisation of a novel repetitive protein that is abundantly expressed in mammalian epidermis. Oxford, UK, 30 July-4 August, 2000.
Swagell, C. D., Rothnagel, J. A. and Worrall, S. (2000). The effect of keratin mutants on hepatocytes metabolising ethanol in culture. 10th Congress of the International Society for Biomedical Research on Alcoholism: ISBRA 2000, Yokohama, Japan, 2-8 July 2000.
Listwan, P., Kessler, M. and Rothnagel, J. A. (2000). Characterisation of the epidermal differentiation complex (EDC) on mouse chromosome 3 and human chromosome 1q21. San Diego, USA, 20-23 August, 2000.
Friend, L. and Rothnagel, J. A. (1999). A conserved bipartite motif mediates cytoplasmic trafficking of intermediate filament precursors. ComBio 99, Conrad Jupiters, Gold Coast, 27-30 September, 1999. Kent Town, SA: Aust. Society for Biochemistry and Molecular Biology.
Mahony, D., Karunaratne, S. M. and Rothnagel, J. A. (1999). Reliable Detection of the lacZ Reporter Gene in Transgenic Mice by Antibody Staining. Combio 99, Conrad Jupiters, Gold Coast, 27-30 September, 1999. Kent Town, SA: Australian Society for Biochemistry and Molecular Biology.
Karunaratne, S. M., Zhang, D., Mahony, D. and Rothnagel, J. A. (1999). Characterisation of the mouse profilaggrin gene and evidence for nuclear trans-location of the B-domain. Gordon Research Conference on Epithelial Differentiation & Kn, Tilton Sch., New Hampshire, USA, 18-23 July, 1999. Tilton, New Hampshire: Gordon Res. Conference.
Wang, X. Q. and Rothnagel, J. A. (1999). Post-transcriptional regulation of the GLI1 oncogene is mediated by exon skipping. Combio 99, Conrad Jupiters, Gold Coast, 27-30 September. Kent Town, SA: Australian Society for Biochemistry and Molecular Biology.
Mahony, D., Karunaratne, S. M. and Rothnagel, J. A. (1999). A minimal 120 bp promoter is sufficient for sustained, tissue-specific expression of Keratin k6A in transgenic mice. 60th Annual Meeting of the Society for Investigative Dermatology, Chicago, 5th - 8th May, 1999. London: Blackwell Scientific. doi: 10.1038/sj.jid.5603168
Nawshad, A., Joseph, B. K., Savage, N. W., Young, W., Wicking, C. A., Smyth, I. M. and Rothnagel, J. A. (1999). Patched and cytokeratin localization in odontogenic keratocysts. Australian & New Zealand Division 38th Annual Scientific Meeting, Brisbane, Australia, 27-29 September, 1998. Chicago, Ill.: American Association for Dental Res.. doi: 10.1177/00220345990780051301
Listwan, P., Karunaratne, S. M. and Rothnagel, J. A. (1999). Characterisation of a novel repetitive protein that is abundantly expressed in mammalian epidermis. ComBio 99, Conrad Jupiters, Gold Coast, 27-30 September, 1999. Kent Town, SA: Aust. Society for Biochemistry and Molecular Biology.
Kessler, M. E., Poidinger, M., Slade, R., Kuczek, E. S. and Rothnagel, J. A. (1999). High-resolution mapping and sequencing of a P1 clone to determine the genomic neighbourhood of the mouse profilaggrin gene. HGM '99 (Human Genome Organisation's Human Genome Meeting '99, Brisbane Convention Centre, Brisbane, 27-30 March, 1999. Brisbane: HUGO (Human Genome Organisation).
Karunaratne, S. M., Zhang, D., Mahony, D. and Rothnagel, J. A. (1999). Characterisation of the mouse profilaggrin gene and evidence for nuclear trans-location of the B-Domain. ComBio 99, Conrad Jupiters, Gold Coast, 27th - 30th September, 1999. Kent Town, SA: Australian Society for Biochemistry and Molecular Biology.
Hung, B. S. and Rothnagel, J. A. (1999). Characterisation of the mouse Frizzled-3 gene and identification of the human ortholog. ComBio 99, Conrad Jupiters, Gold Coast, 27-30 September, 1999. Kent Town, SA: Aust. Society for Biochemistry and Molecular Biology.
Mahony, D., Karunaratne, S. and Rothnagel, J. A. (1999). The Companion Layer and Outer Root Sheath of the Anagen Hair Follicle. First Intercontinental Meeting of Hair Research Societies, St Vincent's Hospital, Melbourne, 11-14 June, 1997. Copenhagen, Denmark: Munksgaard. doi: 10.1111/%28ISSN%291600-0625
Seki, T., Rothnagel, J. A., Bundman, D., Roop, D. R. and Adachi, K. (1996). Characterization of FAR-17a, androgen regulated gene expression in sebaceous glands. 1st Tricontinental Meeting of Hair Research Societies, Brussels Belgium, 8-10 October 1995. AMSTERDAM: ELSEVIER SCIENCE PUBL B V.
Greenhalgh, D. A., Wang, X. J., Dominey, A. M., Rothnagel, J. A. and Roop, D. R. (1994). Development of transgenic mouse models of skin carcinogenesis: potential applications. 6th International Conference on Carcinogenesis and Risk Assessment - Receptor-Mediated Biological Processes: Implications for Evaluating Carcinogenesis, Austin Tx, 8-11 December 1992. NEW YORK: WILEY-LISS, INC.
Greenhalgh, D. A., Rothnagel, J. A. and Roop, D. R. (1994). Epidermis: An attractive target tissue for gene therapy. 42nd Annual Symposium on the Biology of Skin - The Genetics of Skin Disease, Snowmass Village Co, 24-28 July 1993. CAMBRIDGE: BLACKWELL SCIENCE INC. doi: 10.1038/jid.1994.12
Roop, D. R., Rothnagel, J. A., Longley, M. A., Bundman, D. S., Dominey, A. M. and Greenhalgh, D. A. (1992). Development of Transgenic Mouse Models of Human Skin Diseases. 5th Japan - US Symposium On the Biology of the Epidermis, Niseko, Japan, 21-25 July 1991. AMSTERDAM: ELSEVIER SCIENCE PUBL B V.
Roop, D. R., Rothnagel, J. A., Greenhalgh, D. A., Longley, M. A., Bundman, D., Chung, S., Steinert, P. M., Ellis, C. N., Voorhees, J. J., Huff, C. A., Yuspa, S. H. and Rosenthal, D. S. (1991). Modulation of Epidermal Differentiation by Retinoids. Retinoid Symposium, Geneva Switzerland, 16-17 November 1990. BASEL: KARGER.
Rothnagel, J. A., Longley, M. A., Bundman, D., Greenhalgh, D. A., Dominey, A. M. and Roop, D. R. (1990). Targeting gene expression to the epidermis of transgenic mice: Potential applications to genetic skin disorders. Psoriasis Workshop : Molecular, Immunologic and Pharmacologic Aspects of Psoriasis, Deer Valley Ut, 14-17 September 1989. CAMBRIDGE: BLACKWELL SCIENCE INC. doi: 10.1111/1523-1747.ep12505805

Patent

Rothnagel, J. A. and Wang, X. Q. (2005). Expression modulating sequences. 2001273738.