{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:34:22Z","timestamp":1760243662973,"version":"build-2065373602"},"reference-count":52,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003762","name":"Institute Pasteur of Paris","doi-asserted-by":"publisher","award":["PTR-24-2017","A. Tramontano 2018"],"award-info":[{"award-number":["PTR-24-2017","A. Tramontano 2018"]}],"id":[{"id":"10.13039\/501100003762","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Institute Pasteur of Rome","award":["PTR-24-2017","A. Tramontano 2018"],"award-info":[{"award-number":["PTR-24-2017","A. Tramontano 2018"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Telomeres in Drosophila melanogaster, which have inspired a large part of Sergio Pimpinelli work, are similar to those of other eukaryotes in terms of their function. Yet, their length maintenance relies on the transposition of the specialized retrotransposons Het-A, TART, and TAHRE, rather than on the activity of the enzyme telomerase as it occurs in most other eukaryotic organisms. The length of the telomeres in Drosophila thus depends on the number of copies of these transposable elements. Our previous work has led to the isolation of a dominant mutation, Tel1, that caused a several-fold elongation of telomeres. In this study, we molecularly identified the Tel1 mutation by a combination of transposon-induced, site-specific recombination and next-generation sequencing. Recombination located Tel1 to a 15 kb region in 92A. Comparison of the DNA sequence in this region with the Drosophila Genetic Reference Panel of wild-type genomic sequences delimited Tel1 to a 3 bp deletion inside intron 8 of Ino80. Furthermore, CRISPR\/Cas9-induced deletions surrounding the same region exhibited the Tel1 telomere phenotype, confirming a strict requirement of this intron 8 gene sequence for a proper regulation of Drosophila telomere length.<\/jats:p>","DOI":"10.3390\/cells11213484","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T03:28:10Z","timestamp":1667532490000},"page":"3484","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of the Telomere elongation Mutation in Drosophila"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3769-6609","authenticated-orcid":false,"given":"Hemakumar M.","family":"Reddy","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27713, USA"},{"name":"Nabsys 2.0, LLC, 60 Clifford Street, Providence, RI 02903, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4605-7606","authenticated-orcid":false,"given":"Thomas A.","family":"Randall","sequence":"additional","affiliation":[{"name":"Integrative Bioinformatics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27713, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9919-5295","authenticated-orcid":false,"given":"Francesca","family":"Cipressa","sequence":"additional","affiliation":[{"name":"Department of Ecological and Biological Sciences, Universit\u00e0 degli Studi della Tuscia, 01100 Viterbo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2914-7984","authenticated-orcid":false,"given":"Antonella","family":"Porrazzo","sequence":"additional","affiliation":[{"name":"Dipartimento di Biologia e Biotecnologie \u201cC. Darwin\u201d, Sapienza Universit\u00e0 di Roma, 00185 Rome, Italy"},{"name":"Unit of Molecular Genetics of Complex Phenotypes, Bambino Ges\u00f9 Children\u2019s Hospital, IRCSS, 00146 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9628-1411","authenticated-orcid":false,"given":"Giovanni","family":"Cenci","sequence":"additional","affiliation":[{"name":"Dipartimento di Biologia e Biotecnologie \u201cC. Darwin\u201d, Sapienza Universit\u00e0 di Roma, 00185 Rome, Italy"},{"name":"Fondazione Cenci Bolognetti\/Istituto Pasteur Italia, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2372-4848","authenticated-orcid":false,"given":"Radmila Capkova","family":"Frydrychova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27713, USA"},{"name":"Institute of Entomology, Biology Centre AS CR, v.v.i., 370 05 Ceske Budejovice, Czech Republic"},{"name":"Faculty of Science, University of South Bohemia, 370 05 Ceske Budejovice, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James M.","family":"Mason","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27713, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"ref_1","unstructured":"Stuart, D. 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