Article
Biology
Marius-Alexandru Beleaua, Ioan Jung, Cornelia Braicu, Doina Milutin, Simona Gurzu
Summary: The study investigated the diagnostic and prognostic utility of conventional pan-melanoma cocktail members in malignant melanoma, in combination with SOX10 and SOX11 immunohistochemical expression. SOX11 positivity was directly correlated with clinicopathological factors, while the conventional pan-melanoma cocktail successfully differentiated benign nevi from melanomas.
Review
Biochemistry & Molecular Biology
Maria Chiara Gelmi, Laurien E. Houtzagers, Thomas Strub, Imene Krossa, Martine J. Jager
Summary: Microphthalmia-associated transcription factor (MITF) is an important regulator of melanogenesis and melanocyte development. It plays a dual role in promoting local proliferation and inhibiting invasion and inflammation in melanocytic cells, and loss of MITF expression is associated with increased invasion and poor prognosis. MITF also switches between high and low states in different phases of tumour development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Michael Hamm, Pierre Sohier, Valerie Petit, Jeremy H. Raymond, Veronique Delmas, Madeleine Le Coz, Franck Gesbert, Colin Kenny, Zackie Aktary, Marie Pouteaux, Florian Rambow, Alain Sarasin, Nisamanee Charoenchon, Alfonso Bellacosa, Luis Sanchez-del-Campo, Laura Mosteo, Martin Lauss, Dies Meijer, Eirikur Steingrimsson, Goran B. Jonsson, Robert A. Cornell, Irwin Davidson, Colin R. Goding, Lionel Larue
Summary: BRN2 is a key transcription factor that regulates melanoma invasion, but its role in melanoma initiation was previously unclear. This study shows that BRN2 acts as a haplo-insufficient tumor suppressor that positively regulates PTEN expression, and in the context of BRAF mutation and heterozygous PTEN, loss of BRN2 promotes melanoma initiation and progression.
NATURE COMMUNICATIONS
(2021)
Review
Biochemistry & Molecular Biology
Anja Wessely, Theresa Steeb, Carola Berking, Markus Vincent Heppt
Summary: Early detection is crucial for the prognosis of cutaneous melanoma, and new therapies have significantly improved patient survival. The aggressiveness of melanoma is closely related to the embryonic origin of melanocytes and melanoma cells, as well as cellular plasticity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, Research & Experimental
Adriana Sanna, Bengt Phung, Shamik Mitra, Martin Lauss, Jiyeon Choi, Tongwu Zhang, Ching-Ni Njauw, Eugenia Cordero, Katja Harbst, Frida Rosengren, Rita Cabrita, Iva Johansson, Karolin Isaksson, Christian Ingvar, Ana Carneiro, Kevin Brown, Hensin Tsao, My Andersson, Kristian Pietras, Goran Jonsson
Summary: Cellular stress contributes to the phenotype switching of melanoma cells, and this is associated with the loss of specific gene expression and increased expression of mesenchymal markers. The loss of microphthalmia-associated transcription factor (MITF) and SRY-box transcription factor 10 (SOX10) is related to this process, and their loss is associated with promoter hypermethylation and poor patient survival.
Article
Pediatrics
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati
Summary: This study investigated the clinical and molecular characteristics of Waardenburg syndrome in four patients from four different Iranian families, identifying novel genetic mutations and providing important insights for genetic counseling for the condition.
Article
Multidisciplinary Sciences
Grace B. Phelps, Hannah R. Hagen, Adam Amsterdam, Jacqueline A. Lees
Summary: This study investigates the oncogenic signaling events and the role of MITF in uveal melanoma (UM) using zebrafish models. The findings suggest that YAP signaling is the major mediator of UM and MITF acts as a tumor suppressor in UM.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
Jakub Rok, Zuzanna Rzepka, Justyna Kowalska, Klaudia Banach, Artur Beberok, Dorota Wrzesniok
Summary: The study showed that minocycline can enhance melanin synthesis and this effect is intensified by irradiation, especially with the UVB spectrum. The results confirmed the potential role of melanin and UV radiation in minocycline-induced skin hyperpigmentation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Lionel Larribere, Jochen Utikal
Summary: The exact role of the tumor suppressor gene NF1 in melanocyte biology and melanoma transformation is not fully understood. Research indicates that NF1 mutations impact melanoblast differentiation and upregulate several major signaling pathways in both melanoblasts and metastatic melanoma.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Oncology
Tine Norman Alver, Karen-Marie Heintz, Eivind Hovig, Sigurd L. Boe
Summary: In this study, we aimed to explore the complex mechanisms behind the MITF/SOX10-controlled RTK-induced drug resistance in melanoma. Through molecular techniques and vemurafenib-resistant melanoma cell lines, we revealed the changes in MITF and AXL expression activity after vemurafenib resistance, as well as the intricate regulatory mechanisms involving the master regulators, receptors, and ligands.
Letter
Biochemistry & Molecular Biology
Yann Cheli, Meri K. Tulic, Najla El Hachem, Nicolas Nottet, Arnaud Jacquel, Maeva Gesson, Thomas Strub, Karine Bille, Alexandra Picard-Gauci, Henri Montaudie, Guillaume E. Beranger, Thierry Passeron, Pierre Close, Corine Bertolotto, Robert Ballotti
Summary: Resistance to immunotherapies in melanoma patients is associated with a decrease in cell differentiation and an increase in the mesenchymal phenotype. The loss of MITF plays a role in melanoma cells evading the immune system, with ITGBL1 identified as a key immunomodulator. Inhibiting ITGBL1 could potentially improve melanoma response to immunotherapies.
Article
Biochemistry & Molecular Biology
Tomohisa Hirobe, Hisao Enami
Summary: This study suggests that elastin fibers may play an important role in the development and repigmentation of vitiligo. The results show that elastin fibers are decreased in vitiliginous skin and restored in repigmented skin after treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Nadia Habel, Najla El-Hachem, Frederic Soysouvanh, Hanene Hadhiri-Bzioueche, Serena Giuliano, Sophie Nguyen, Pavel Horak, Anne-Sophie Gay, Delphine Debayle, Nicolas Nottet, Guillaume Beranger, Brigitte Bressac-de Paillerets, Corine Bertolotto, Robert Ballotti
Summary: The master transcription factor MITF plays a crucial role in controlling ubiquitination in melanoma cells, with FBXO32 identified as a key target gene promoting migration and proliferation. Knockdown of FBXO32 leads to a global change in gene expression profile in melanoma cells, with inhibition of CDK6 and involvement of chromatin remodeling complex activity. FBXO32 and SMARCA4 are part of a molecular cascade linking MITF to epigenetics in melanoma cells.
CELL DEATH AND DIFFERENTIATION
(2021)
Article
Cell Biology
Weizhuo Wang, Feiyang Li, Jing Wang, Zuimeng Liu, Meiyu Tian, Zhenhang Wang, Huirong Li, Jia Qu, Yu Chen, Ling Hou
Summary: Hedgehog signaling plays a crucial role in the development of melanocytes. Disrupting this signaling specifically in melanocytes resulted in the abnormal accumulation of melanoblasts in the eye, leading to severe malformation while the rest of the melanocyte population remained unaltered.
DISEASE MODELS & MECHANISMS
(2023)
Article
Genetics & Heredity
Sen Zhang, Hongen Xu, Yongan Tian, Danhua Liu, Xinyue Hou, Beiping Zeng, Bei Chen, Huanfei Liu, Ruijun Li, Xiaohua Li, Bin Zuo, Ryan Tang, Wenxue Tang
Summary: This study identified the genetic causes for 14 patients with Waardenburg syndrome or congenital sensorineural hearing loss, including seven novel mutations in PAX3, SOX10, and MITF genes. The research revealed high heterogeneity in Chinese patients with Waardenburg syndrome, expanding the database of mutations in these genes and improving our understanding of the disease.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Andrea Maurichi, Rosalba Miceli, Hanna Eriksson, Julia Newton-Bishop, Jeremie Nsengimana, May Chan, Andrew J. Hayes, Kara Heelan, David Adams, Roberto Patuzzo, Francesco Barretta, Gianfranco Gallino, Catherine Harwood, Daniele Bergamaschi, Dorothy Bennett, Konstantinos Lasithiotakis, Paola Ghiorzo, Bruna Dalmasso, Ausilia Manganoni, Francesca Consoli, Ilaria Mattavelli, Consuelo Barbieri, Andrea Leva, Umberto Cortinovis, Vittoria Espeli, Cristina Mangas, Pietro Quaglino, Simone Ribero, Paolo Broganelli, Giovanni Pellacani, Caterina Longo, Corrado Del Forno, Lorenzo Borgognoni, Serena Sestini, Nicola Pimpinelli, Sara Fortunato, Alessandra Chiarugi, Paolo Nardini, Elena Morittu, Antonio Florita, Mara Cossa, Barbara Valeri, Massimo Milione, Giancarlo Pruneri, Odysseas Zoras, Andrea Anichini, Roberta Mortarini, Mario Santinami
JOURNAL OF CLINICAL ONCOLOGY
(2020)
Letter
Oncology
Andrea Maurichi, Rosalba Miceli, Hanna Eriksson, Julia Newton-Bishop, Jeremie Nsengimana, May Chan, Andrew J. Hayes, Kara Heelan, David Adams, Roberto Patuzzo, Francesco Barretta, Gianfranco Gallino, Catherine Harwood, Daniele Bergamaschi, Dorothy Bennett, Konstantinos Lasithiotakis, Paola Ghiorzo, Bruna Dalmasso, Ausilia Manganoni, Francesca Consoli, Ilaria Mattavelli, Consuelo Barbieri, Andrea Leva, Umberto Cortinovis, Vittoria Espeli, Cristina Mangas, Pietro Quaglino, Simone Ribero, Paolo Broganelli, Giovanni Pellacani, Caterina Longo, Corrado Del Forno, Lorenzo Borgognoni, Serena Sestini, Nicola Pimpinelli, Sara Fortunato, Alessandra Chiarugi, Paolo Nardini, Elena Morittu, Antonio Florita, Mara Cossa, Barbara Valeri, Massimo Milione, Giancarlo Pruneri, Odysseas Zoras, Andrea Anichini, Roberta Mortarini, Mario Santinami
JOURNAL OF CLINICAL ONCOLOGY
(2020)
Article
Oncology
Andrea Maurichi, Rosalba Miceli, Roberto Patuzzo, Francesco Barretta, Gianfranco Gallino, Ilaria Mattavelli, Consuelo Barbieri, Andrea Leva, Umberto Cortinovis, Elena Tolomio, Milena Sant, Gianpiero Castelli, Leonardo Zichichi, Giovanni Pellacani, Ignazio Stanganelli, Marco Simonacci, Ausilia Manganoni, Corrado Del Forno, Gioachino Caresana, Catherine Harwood, Daniele Bergamaschi, Konstantinos Lasithiotakis, Dorothy Bennett, Vittoria Espeli, Cristina Mangas, Sandra Leoni Parvex, Barbara Valeri, Mara Cossa, Marta Barisella, Alessandro Pellegrinelli, Claudia Miranda, Andrea Anichini, Roberta Mortarini, Odysseas Zoras, Mario Santinami
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(2020)
Article
Cell Biology
Linh Le, Iliana E. Escobar, Tina Ho, Ariel J. Lefkovith, Emily Latteri, Kirk D. Haltaufderhyde, Megan K. Dennis, Lynn Plowright, Elena Sviderskaya, Dorothy C. Bennett, Elena Oancea, Michael S. Marks
MOLECULAR BIOLOGY OF THE CELL
(2020)
Article
Multidisciplinary Sciences
Ashot Margaryan, Daniel J. Lawson, Martin Sikora, Fernando Racimo, Simon Rasmussen, Ida Moltke, Lara M. Cassidy, Emil Jorsboe, Andres Ingason, Mikkel W. Pedersen, Thorfinn Korneliussen, Helene Wilhelmson, Magdalena M. Bus, Peter de Barros Damgaard, Rui Martiniano, Gabriel Renaud, Claude Bherer, J. Victor Moreno-Mayar, Anna K. Fotakis, Marie Allen, Raili Allmae, Martyna Molak, Enrico Cappellini, Gabriele Scorrano, Hugh McColl, Alexandra Buzhilova, Allison Fox, Anders Albrechtsen, Berit Schutz, Birgitte Skar, Caroline Arcini, Ceri Falys, Charlotte Hedenstierna Jonson, Dariusz Blaszczyk, Denis Pezhemsky, Gordon Turner-Walker, Hildur Gestsdottir, Inge Lundstrom, Ingrid Gustin, Ingrid Mainland, Inna Potekhina, Italo M. Muntoni, Jade Cheng, Jesper Stenderup, Jilong Ma, Julie Gibson, Juri Peets, Jorgen Gustafsson, Katrine H. Iversen, Linzi Simpson, Lisa Strand, Louise Loe, Maeve Sikora, Marek Florek, Maria Vretemark, Mark Redknap, Monika Bajka, Tamara Pushkina, Morten Sovso, Natalia Grigoreva, Tom Christensen, Ole Kastholm, Otto Uldum, Pasquale Favia, Per Holck, Sabine Sten, Simun V. Arge, Sturla Ellingvag, Vayacheslav Moiseyev, Wieslaw Bogdanowicz, Yvonne Magnusson, Ludovic Orlando, Peter Pentz, Mads Dengso Jessen, Anne Pedersen, Mark Collard, Daniel G. Bradley, Marie Louise Jorkov, Jette Arneborg, Niels Lynnerup, Neil Price, M. Thomas P. Gilbert, Morten E. Allentoft, Jan Bill, Soren M. Sindbaek, Lotte Hedeager, Kristian Kristiansen, Rasmus Nielsen, Thomas Werge, Eske Willerslev
Article
Cell Biology
Shanna L. Bowman, Linh Le, Yueyao Zhu, Dawn C. Harper, Anand Sitaram, Alexander C. Theos, Elena Sviderskaya, Dorothy C. Bennett, Graca Raposo-Benedetti, David J. Owen, Megan K. Dennis, Michael S. Marks
Summary: The vSNARE VAMP7 is sorted into transport carriers in complex with the tSNARE STX13, with sorting requiring recognition by either AP-3 delta or pallidin subunit of BLOC-1, but not both. This mechanism allows for redundant recognition of sorting determinants on a SNARE complex by an AP-3-BLOC-1 super-complex.
JOURNAL OF CELL BIOLOGY
(2021)
Article
Genetics & Heredity
Stacie K. Loftus, Linnea Lundh, Dawn E. Watkins-Chow, Laura L. Baxter, Erola Pairo-Castineira, Ian J. Jackson, William S. Oetting, William J. Pavan, David R. Adams
Summary: Oculocutaneous albinism (OCA) is a heritable disorder of pigment production, and a complex structural variant (CxSV) in the OCA2 gene involving a 143 kb inverted segment has been identified as a potential genetic cause in some affected individuals. This discovery highlights the importance of comprehensive genetic testing for a complete molecular diagnosis in individuals with OCA who do not have identifiable mutations in known OCA genes.
Article
Biochemistry & Molecular Biology
Julia Sires-Campos, Ana Lambertos, Cedric Delevoye, Graca Raposo, Dorothy C. Bennett, Elena Sviderskaya, Celia Jimenez-Cervantes, Conchi Olivares, Jose Carlos Garcia-Borron
Summary: The absence of MGRN1 leads to cell-autonomous stimulation of pigment production in melanocytes by increasing tyrosinase activity through neutralizing melanosomal pH. Regulating melanosomal pH may involve several key genes such as subunits of V-ATPase and Mucolipin 3.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Biology
Gabriel Renaud, Maibritt Norgaard, Johan Lindberg, Henrik Gronberg, Bram De Laere, Jorgen Bjerggaard Jensen, Michael Borre, Claus Lindbjerg Andersen, Karina Dalsgaard Sorensen, Lasse Maretty, Soren Besenbacher
Summary: This study proposes a novel unsupervised method, non-negative matrix factorization (NMF), to accurately infer tumor fragment length distribution and detect cancer using cell-free DNA (cfDNA) sequencing. The study demonstrates that NMF can accurately infer tumor fragment length distribution and correlate with ctDNA levels. It also shows that using NMF on genomic regions can identify fragment length signatures associated with open chromatin.
Article
Immunology
Nikolas Hallberg Thuesen, Michael Schantz Klausen, Shyam Gopalakrishnan, Thomas Trolle, Gabriel Renaud
Summary: Identifying the specific human leukocyte antigen (HLA) allele combination is crucial in various medical fields. This study evaluated the performance and robustness of five next-generation sequencing (NGS) based HLA typing tools, and found the most accurate tool for each HLA locus. It also discovered that Optitype's typing accuracy is not impaired by short read length or DNA damage as long as the depth of coverage is high enough.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Stacie K. Loftus, Meredith F. Gillis, Linnea Lundh, Laura L. Baxter, Julia C. Wedel, Dawn E. Watkins-Chow, Frank X. Donovan, Yuri NISC Comparative Sequencing Program, Yuri Sergeev, William S. Oetting, William J. Pavan, David R. Adams
Summary: Oculocutaneous albinism (OCA) is a rare disorder characterized by decreased pigment production and visual-developmental changes. TYR mutations are common causes of OCA and a detailed analysis of TYR variants is necessary for identifying potentially disease-causing alleles. In this study, the analysis of high-depth short-read TYR sequencing data revealed various TYR variants, including a common disease-causing haplotype (p.[Ser192Tyr; Arg402Gln]) present in a significant number of OCA probands. Identification of phased variants is crucial for a comprehensive assessment of potentially disease-causing alleles.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemical Research Methods
Joshua Daniel Rubin, Nicola Alexandra Vogel, Shyam Gopalakrishnan, Peter Wad Sackett, Gabriel Renaud
Summary: HaploCart is a tool that improves human mtDNA haplotype inference on single-source samples by leveraging pangenomics and Bayesian inference principles. It reduces Eurocentric bias and enhances haplotyping performance at low coverage depths. HaploCart outperforms other available tools and provides phylogenetically-aware confidence scores.
PLOS COMPUTATIONAL BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Jiyoung Lee, Yeonjoo Kim, Paris Ataliotis, Hyung-Goo Kim, Dae-Won Kim, Dorothy C. Bennett, Nigel A. Brown, Lawrence C. Layman, Soo-Hyun Kim
Summary: WDR11 is an important gene associated with Kallmann syndrome and plays a role in reproductive system development. Its molecular mechanism is not fully understood. In this study, we found that WDR11 is required for the development of primordial germ cells (PGCs) by regulating both canonical and noncanonical Hedgehog signaling pathways. Loss of WDR11 affects PGC motility and proliferation through the noncanonical pathway, and also modulates the growth of somatic cells surrounding PGCs through the canonical pathway. We further discovered that WDR11 regulates ciliogenesis and interacts with IFT20 to regulate anterograde intraflagellar transport.
SCIENTIFIC REPORTS
(2023)
Article
Biology
Julia K. Soo, Joanna T. Castle, Dorothy C. Bennett
Summary: This study reports the discovery of a synthetic peptide that can selectively kill human melanoma cells while being less toxic to normal cells. The peptide is derived from the target-binding site of the melanoma suppressor protein p16 and can induce apoptosis through a different pathway. The peptide also shows varying toxicity to other types of cancer cells.
