Anne Bowcock, PhD
- PROFESSOR | Oncological Sciences
- PROFESSOR | Dermatology
- PROFESSOR | Genetics and Genomic Sciences
Research Topics:Angiogenesis, Anti-Tumor Therapy, Antigen Presentation, Apoptosis/Cell Death, Autoimmunity, Bioinformatics, Bone Biology, Breast Cancer, Cancer, Cancer Genetics, Cartilage Biology, Cellular Differentiation, Cellular Immunity, Chemokines, Chromatin, Computational Biology, Dendritic Cells, Differentiation, Eczema, Endothelial Cells, Epigenetics, Epigenomics, Epithelial Cells, Gap Junctions, Genetics, Genomics, Human Genetics and Genetic Disorders, Inflammation, Interferon, Knockout Mice, Metastasis, Microarray, Ophthalmology, Post-Transcriptional Processing, RNA, RNA Splicing & Processing, Retina, Retrovirus, Skin Cancer, T Cells, Tolerance, Transgenic Mice, Translation, Tumor Suppressor Genes, Tumorigenesis, Wound Healing
PhD, University of the Witwatersrand
American Skin Association 2005 Psoriasis Achievement Award
We investigate the genetics and genomics of psoriasis and psoriatic arthritis and ways of combatting their effects. We have profiled the psoriasis transcriptome and identified the majority of small RNAs (microRNAs and others) operating in healthy and diseased skin. We continue to investigate the roles of these small RNAs and their cellular targets. We also identified a gene mutated in a familial form of psoriasis and psoriatic arthritis (CARD14) and determined the functional consequence of its psoriasis causing mutations. We are now generating murine models of the mutations to help in understanding how CARD14 mutations lead to disease. We are also using this mouse model to examine the effects of novel therapeutics for psoriasis and psoriatic arthritis. To identify additional common and rare variants predisposing to psoriasis we are exome sequencing unrelated patients, and are also searching for the common (GWAS identified) risk factors through genomic/epigenomic analyses of key cell types involved in disease pathogenesis. With respect to cancer, we are investigating the molecular basis of a number of adult cancers including uveal melanoma, acral melanoma, mesothelioma and thymic epithelial cancers. This involves exome and genome sequencing, RNA sequencing and a search for novel gene fusions, and an investigation of tumor heterogeneity and evolution. We were the first to identify the major genetic drivers of uveal melanoma (BAP1 and SF3B1) and are currently investigating their role in tumorigenesis and metastasis.
Field MG, Durante MA, Decatur CL, Tarlan B, Oelschlager KM, Stone JF, Kuznetsov J, Bowcock AM, Kurtenbach S, Harbour JW. Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in Class 1 and Class 2 uveal melanomas. Oncotarget 2016 Sep; 7(37).
Tagliabue E, Gandini S, García-Borrón JC, Maisonneuve P, Newton-Bishop J, Polsky D, Lazovich D, Kumar R, Ghiorzo P, Ferrucci L, Gruis NA, Puig S, Kanetsky PA, Motokawa T, Ribas G, Landi MT, Fargnoli MC, Wong TH, Stratigos A, Helsing P, Guida G, Autier P, Han J, Little J, Sera F, Raimondi S. Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project. The Journal of investigative dermatology 2016 Sep; 136(9).
Decatur CL, Ong E, Garg N, Anbunathan H, Bowcock AM, Field MG, Harbour JW. Driver Mutations in Uveal Melanoma: Associations With Gene Expression Profile and Patient Outcomes. JAMA ophthalmology 2016 Jul; 134(7).
Howes A, O'Sullivan PA, Breyer F, Ghose A, Cao L, Krappmann D, Bowcock AM, Ley SC. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation. The Biochemical journal 2016 Jun; 473(12).
Moorcraft SY, Ladas G, Bowcock A, Chau I. Management of resectable colorectal lung metastases. Clinical & experimental metastasis 2016 Mar; 33(3).
Stuart PE, Nair RP, Tsoi LC, Tejasvi T, Das S, Kang HM, Ellinghaus E, Chandran V, Callis-Duffin K, Ike R, Li Y, Wen X, Enerbäck C, Gudjonsson JE, Kõks S, Kingo K, Esko T, Mrowietz U, Reis A, Wichmann HE, Gieger C, Hoffmann P, Nöthen MM, Winkelmann J, Kunz M, Moreta EG, Mease PJ, Ritchlin CT, Bowcock AM, Krueger GG, Lim HW, Weidinger S, Weichenthal M, Voorhees JJ, Rahman P, Gregersen PK, Franke A, Gladman DD, Abecasis GR, Elder JT. Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. American journal of human genetics 2015 Dec; 97(6).
Aires DJ, Rockwell G, Menter A, Nielson C, Wick J, Sedivy S, Tawfik O, Bowcock A, Sinha AA. Reproducible Novel Transcriptional Differences Between Psoriatic Lesional and Non-Lesional Skin Show Increased Inflammation and Metabolism. Journal of drugs in dermatology : JDD 2015 Aug; 14(8).
Harden JL, Krueger JG, Bowcock AM. The immunogenetics of Psoriasis: A comprehensive review. Journal of autoimmunity 2015 Nov; 64.
Tagliabue E, Fargnoli MC, Gandini S, Maisonneuve P, Liu F, Kayser M, Nijsten T, Han J, Kumar R, Gruis NA, Ferrucci L, Branicki W, Dwyer T, Blizzard L, Helsing P, Autier P, García-Borrón JC, Kanetsky PA, Landi MT, Little J, Newton-Bishop J, Sera F, Raimondi S. MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. British journal of cancer 2015 Jul; 113(2).
Yin X, Low HQ, Wang L, Li Y, Ellinghaus E, Han J, Estivill X, Sun L, Zuo X, Shen C, Zhu C, Zhang A, Sanchez F, Padyukov L, Catanese JJ, Krueger GG, Duffin KC, Mucha S, Weichenthal M, Weidinger S, Lieb W, Foo JN, Li Y, Sim K, Liany H, Irwan I, Teo Y, Theng CT, Gupta R, Bowcock A, De Jager PL, Qureshi AA, de Bakker PI, Seielstad M, Liao W, Ståhle M, Franke A, Zhang X, Liu J. Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. Nature communications 2015 Apr; 6.
Harden JL, Lewis SM, Pierson KC, Suárez-Fariñas M, Lentini T, Ortenzio FS, Zaba LC, Goldbach-Mansky R, Bowcock AM, Lowes MA. CARD14 expression in dermal endothelial cells in psoriasis. PloS one 2014; 9(11).
Das S, Stuart PE, Ding J, Tejasvi T, Li Y, Tsoi LC, Chandran V, Fischer J, Helms C, Duffin KC, Voorhees JJ, Bowcock AM, Krueger GG, Lathrop GM, Nair RP, Rahman P, Abecasis GR, Gladman D, Elder JT. Fine mapping of eight psoriasis susceptibility loci. European journal of human genetics : EJHG 2015 Jun; 23(6).
Luke JJ, Triozzi PL, McKenna KC, Van Meir EG, Gershenwald JE, Bastian BC, Gutkind JS, Bowcock AM, Streicher HZ, Patel PM, Sato T, Sossman JA, Sznol M, Welch J, Thurin M, Selig S, Flaherty KT, Carvajal RD. Biology of advanced uveal melanoma and next steps for clinical therapeutics. Pigment cell & melanoma research 2015 Mar; 28(2).
Okada Y, Han B, Tsoi LC, Stuart PE, Ellinghaus E, Tejasvi T, Chandran V, Pellett F, Pollock R, Bowcock AM, Krueger GG, Weichenthal M, Voorhees JJ, Rahman P, Gregersen PK, Franke A, Nair RP, Abecasis GR, Gladman DD, Elder JT, de Bakker PI, Raychaudhuri S. Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes. American journal of human genetics 2014 Aug; 95(2).
Pasquali E, García-Borrón JC, Fargnoli MC, Gandini S, Maisonneuve P, Bagnardi V, Specchia C, Liu F, Kayser M, Nijsten T, Nagore E, Kumar R, Hansson J, Kanetsky PA, Ghiorzo P, Debniak T, Branicki W, Gruis NA, Han J, Dwyer T, Blizzard L, Landi MT, Palmieri G, Ribas G, Stratigos A, Council ML, Autier P, Little J, Newton-Bishop J, Sera F, Raimondi S. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project. International journal of cancer 2015 Feb; 136(3).
Rashmi R, DeSelm C, Helms C, Bowcock A, Rogers BE, Rader JL, Rader J, Grigsby PW, Schwarz JK. AKT inhibitors promote cell death in cervical cancer through disruption of mTOR signaling and glucose uptake. PloS one 2014; 9(4).
Bowcock AM. Invited review DNA copy number changes as diagnostic tools for lung cancer. Thorax 2014 May; 69(5).
Zeng X, Chen H, Gupta R, Paz-Altschul O, Bowcock AM, Liao W. Deletion of the activating NKG2C receptor and a functional polymorphism in its ligand HLA-E in psoriasis susceptibility. Experimental dermatology 2013 Oct; 22(10).
Anbunathan H, Bowcock AM. The Molecular Revolution in Cutaneous Biology: The Era of Genome-Wide Association Studies and Statistical, Big Data, and Computational Topics. The Journal of investigative dermatology 2017 May; 137(5).