Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections.

Autor: Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Naji M; University of California, Riverside, School of Medicine, California, USA., Mahmoudi H; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran., Barnada SM; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Huang C; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Naghipoor K; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hozhabrpour A; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran., Park JS; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, USA., Manzo Margiotta F; Department of Dermatology, University of Pisa, Pisa, Italy., Vahidnezhad F; UCSC Silicon Valley Extension, University of California, Santa Cruz, California, USA., Saffarian Z; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Imam Khomeini Hospital, Tehran University of Medical Science, Tehran, Iran., Kamyab-Hesari K; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran., Tolouei M; Department of Plastic Surgery, School of Medicine, and., Faraji N; Razi Clinical Research Development Unit, Razi Hospital, Guilan University of Medical Science, Rasht, Iran., Azimi SZ; Center for Research and Training in Skin Diseases and Leprosy, Tehran University of Medical Sciences, Tehran, Iran., Namdari G; Department of Dermatology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Mansouri P; Department of Research, Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris University, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA., Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris University, Paris, France., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris University, Paris, France., Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jazyk: angličtina
Zdroj: JCI insight [JCI Insight] 2023 Mar 08; Vol. 8 (5). Date of Electronic Publication: 2023 Mar 08.
DOI: 10.1172/jci.insight.162558
Abstrakt: HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-, β-, γ-, μ-, and ν-HPV). The γ- and β-HPVs are present in low copy numbers in healthy individuals; however, in patients with an inborn error of immunity, certain species of β-HPVs can cause epidermodysplasia verruciformis (EV), manifesting as recalcitrant cutaneous warts and skin cancer. EV presents as either typical or atypical. Manifestations of typical EV are limited to the skin and are caused by abnormal keratinocyte-intrinsic immunity to β-HPVs due to pathogenic sequence variants in TMC6, TMC8, or CIB1. We applied a transcriptome-based computational pipeline, VirPy, to RNA extracted from normal-appearing skin and wart samples of patients with typical EV to explore the viral and human genetic determinants. In 26 patients, 9 distinct biallelic mutations were detected in TMC6, TMC8, and CIB1, 7 of which are previously unreported to our knowledge. Additionally, 20 different HPV species, including 3 α-HPVs, 16 β-HPVs, and 1 γ-HPV, were detected, 8 of which are reported here for the first time to our knowledge in patients with EV (β-HPV-37, -47, -80, -151, and -159; α-HPV-2 and -57; and γ-HPV-128). This study expands the TMC6, TMC8, and CIB1 sequence variant spectrum and implicates new HPV subtypes in the pathogenesis of typical EV.
Databáze: MEDLINE