Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies

ABSTRACT Human T lymphotropic virus type 1 (HTLV-1) chronic infection is maintained through mitotic proliferation of the infected CD4+ T cells, where the viral genome is integrated as a provirus in its host genome. HTLV-1 integration sites (ISs) have a part in HTLV-1-associated pathologies, with dis...

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Main Authors: Vincent Guiraud, Jérôme Alexandre Denis, Sofia Ben Attia, Erwan Ablin, Ronan Legrand, Véronique Morel, Claire Lacan, Sylvain Choquet, Rabab Debs, Margaux Cheval, Cindy Marques, Alexandre Le Joncour, Jean-Christophe Corvol, Olivier Benveniste, Valérie Pourcher, Anne-Geneviève Marcelin, Agnès Gautheret-Dejean, Clotilde Bravetti, Vincent Calvez
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Language:English
Published: American Society for Microbiology 2025-05-01
Series:Microbiology Spectrum
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Online Access:https://journals.asm.org/doi/10.1128/spectrum.03208-24
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author Vincent Guiraud
Jérôme Alexandre Denis
Sofia Ben Attia
Erwan Ablin
Ronan Legrand
Véronique Morel
Claire Lacan
Sylvain Choquet
Rabab Debs
Margaux Cheval
Cindy Marques
Alexandre Le Joncour
Jean-Christophe Corvol
Olivier Benveniste
Valérie Pourcher
Anne-Geneviève Marcelin
Agnès Gautheret-Dejean
Clotilde Bravetti
Vincent Calvez
author_facet Vincent Guiraud
Jérôme Alexandre Denis
Sofia Ben Attia
Erwan Ablin
Ronan Legrand
Véronique Morel
Claire Lacan
Sylvain Choquet
Rabab Debs
Margaux Cheval
Cindy Marques
Alexandre Le Joncour
Jean-Christophe Corvol
Olivier Benveniste
Valérie Pourcher
Anne-Geneviève Marcelin
Agnès Gautheret-Dejean
Clotilde Bravetti
Vincent Calvez
author_sort Vincent Guiraud
collection DOAJ
description ABSTRACT Human T lymphotropic virus type 1 (HTLV-1) chronic infection is maintained through mitotic proliferation of the infected CD4+ T cells, where the viral genome is integrated as a provirus in its host genome. HTLV-1 integration sites (ISs) have a part in HTLV-1-associated pathologies, with distinct IS patterns associated with malignant proliferation or inflammatory diseases. However, IS determination remains challenging because most assays rely on complex biological and biocomputing protocols. We present an IS assay that solely relies on PCR and Sanger sequencing, which allowed HTLV-1 IS determination in four patients with various HTLV-1-associated pathologies. We adapted an IS assay derived from a panhandle PCR, with several modifications to increase yield. Absence of bias regarding IS retrieval was confirmed using TCRγ clonality. IS analysis was performed in four HTLV-1-positive patients: two with polymyositis, one with adult T-cell leukemia/lymphoma (ATLL), and one with HTLV-1-associated myelopathy (HAM). Overall yield was around 20%, with a mean sequence length downstream the IS of 336 ± 230 bp (range, 44–1,024 bp). There was no major bias in clonal determination, as IS results matched clonality assessed using a TCRγ assay. The IS assay revealed distinct clonal patterns depending on HTLV-1 pathology: dominated by a large clone for ATLL, oligo- or polyclonal for polymyositis and polyclonal for HAM. As a conclusion, we present an easy-to-implement integration site assay for HTLV-1 that allows a relatively unbiased IS analysis regarding clonal populations. This assay could be useful to further explore IS involvement in HTLV-1 associated pathologies.IMPORTANCEHuman T lymphotropic virus type 1 (HTLV-1) chronic infection is due to the mitotic proliferation of infected CD4+ T cells, where the proviral DNA is integrated in its host DNA. HTLV-1 integration seems to play a non-negligible part in HTLV-1-associated pathologies. However, most HTLV-1 integration studies originate from a few centers, mostly because integration site (IS) protocols rely on high-cost experimental materials and advanced bioinformatic analysis. We have developed an IS assay that solely relies on Taq polymerase and Sanger sequencing, with no need for costly biological material nor complex bioinformatic skills. This assay was successfully performed on four HTLV-1-positive patients with distinct pathologies (ATLL, HAM, and polymyositis) and distinct material (blood and cerebrospinal fluid). All four patients originated from distinct areas in Africa and the Caribbean Sea Island. This assay has a relatively high yield, around 20%. It provided similar results regarding HTLV-1 clonality compared with a TCRγ assessment, which indicated that IS recovery was likely unbiased.
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spelling doaj-art-5de93065e9194437b1e06e2c48d46f222025-08-20T02:11:31ZengAmerican Society for MicrobiologyMicrobiology Spectrum2165-04972025-05-0113510.1128/spectrum.03208-24Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologiesVincent Guiraud0Jérôme Alexandre Denis1Sofia Ben Attia2Erwan Ablin3Ronan Legrand4Véronique Morel5Claire Lacan6Sylvain Choquet7Rabab Debs8Margaux Cheval9Cindy Marques10Alexandre Le Joncour11Jean-Christophe Corvol12Olivier Benveniste13Valérie Pourcher14Anne-Geneviève Marcelin15Agnès Gautheret-Dejean16Clotilde Bravetti17Vincent Calvez18Virology Department, INSERM, Pierre Louis Institute of Epidemiology and Public Health (IPLESP), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Endocrine and Oncological Biochemistry, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, FranceVirology Department, INSERM, Pierre Louis Institute of Epidemiology and Public Health (IPLESP), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceVirology Department, INSERM, Pierre Louis Institute of Epidemiology and Public Health (IPLESP), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Endocrine and Oncological Biochemistry, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, FranceDepartment of Clinical Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Clinical Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Clinical Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Neurology, Public Hospital Network of Paris, INSERM, National Center for Scientific Research, Paris Brain Institute, Pitié-Salpêtrière Hospital, Center for Clinical Investigation Neurosciences, Sorbonne University, Paris, FranceDepartment of Neurology, Public Hospital Network of Paris, INSERM, National Center for Scientific Research, Paris Brain Institute, Pitié-Salpêtrière Hospital, Center for Clinical Investigation Neurosciences, Sorbonne University, Paris, FranceDepartment of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceDepartment of Neurology, Public Hospital Network of Paris, INSERM, National Center for Scientific Research, Paris Brain Institute, Pitié-Salpêtrière Hospital, Center for Clinical Investigation Neurosciences, Sorbonne University, Paris, FranceDepartment of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceInfectious Diseases Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, FranceVirology Department, INSERM, Pierre Louis Institute of Epidemiology and Public Health (IPLESP), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceVirology Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, FranceDepartment of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceVirology Department, INSERM, Pierre Louis Institute of Epidemiology and Public Health (IPLESP), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Paris, FranceABSTRACT Human T lymphotropic virus type 1 (HTLV-1) chronic infection is maintained through mitotic proliferation of the infected CD4+ T cells, where the viral genome is integrated as a provirus in its host genome. HTLV-1 integration sites (ISs) have a part in HTLV-1-associated pathologies, with distinct IS patterns associated with malignant proliferation or inflammatory diseases. However, IS determination remains challenging because most assays rely on complex biological and biocomputing protocols. We present an IS assay that solely relies on PCR and Sanger sequencing, which allowed HTLV-1 IS determination in four patients with various HTLV-1-associated pathologies. We adapted an IS assay derived from a panhandle PCR, with several modifications to increase yield. Absence of bias regarding IS retrieval was confirmed using TCRγ clonality. IS analysis was performed in four HTLV-1-positive patients: two with polymyositis, one with adult T-cell leukemia/lymphoma (ATLL), and one with HTLV-1-associated myelopathy (HAM). Overall yield was around 20%, with a mean sequence length downstream the IS of 336 ± 230 bp (range, 44–1,024 bp). There was no major bias in clonal determination, as IS results matched clonality assessed using a TCRγ assay. The IS assay revealed distinct clonal patterns depending on HTLV-1 pathology: dominated by a large clone for ATLL, oligo- or polyclonal for polymyositis and polyclonal for HAM. As a conclusion, we present an easy-to-implement integration site assay for HTLV-1 that allows a relatively unbiased IS analysis regarding clonal populations. This assay could be useful to further explore IS involvement in HTLV-1 associated pathologies.IMPORTANCEHuman T lymphotropic virus type 1 (HTLV-1) chronic infection is due to the mitotic proliferation of infected CD4+ T cells, where the proviral DNA is integrated in its host DNA. HTLV-1 integration seems to play a non-negligible part in HTLV-1-associated pathologies. However, most HTLV-1 integration studies originate from a few centers, mostly because integration site (IS) protocols rely on high-cost experimental materials and advanced bioinformatic analysis. We have developed an IS assay that solely relies on Taq polymerase and Sanger sequencing, with no need for costly biological material nor complex bioinformatic skills. This assay was successfully performed on four HTLV-1-positive patients with distinct pathologies (ATLL, HAM, and polymyositis) and distinct material (blood and cerebrospinal fluid). All four patients originated from distinct areas in Africa and the Caribbean Sea Island. This assay has a relatively high yield, around 20%. It provided similar results regarding HTLV-1 clonality compared with a TCRγ assessment, which indicated that IS recovery was likely unbiased.https://journals.asm.org/doi/10.1128/spectrum.03208-24HTLV-1Integration SiteISLApanhandle PCRclonal proliferation
spellingShingle Vincent Guiraud
Jérôme Alexandre Denis
Sofia Ben Attia
Erwan Ablin
Ronan Legrand
Véronique Morel
Claire Lacan
Sylvain Choquet
Rabab Debs
Margaux Cheval
Cindy Marques
Alexandre Le Joncour
Jean-Christophe Corvol
Olivier Benveniste
Valérie Pourcher
Anne-Geneviève Marcelin
Agnès Gautheret-Dejean
Clotilde Bravetti
Vincent Calvez
Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies
Microbiology Spectrum
HTLV-1
Integration Site
ISLA
panhandle PCR
clonal proliferation
title Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies
title_full Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies
title_fullStr Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies
title_full_unstemmed Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies
title_short Development of a new high-yield integration site assay reveals disease-specific patterns across HTLV-1-associated pathologies
title_sort development of a new high yield integration site assay reveals disease specific patterns across htlv 1 associated pathologies
topic HTLV-1
Integration Site
ISLA
panhandle PCR
clonal proliferation
url https://journals.asm.org/doi/10.1128/spectrum.03208-24
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