From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

التفاصيل البيبلوغرافية
العنوان: From telomere to telomere: The transcriptional and epigenetic state of human repeat elements
المؤلفون: Savannah J. Hoyt, Jessica M. Storer, Gabrielle A. Hartley, Patrick G. S. Grady, Ariel Gershman, Leonardo G. de Lima, Charles Limouse, Reza Halabian, Luke Wojenski, Matias Rodriguez, Nicolas Altemose, Arang Rhie, Leighton J. Core, Jennifer L. Gerton, Wojciech Makalowski, Daniel Olson, Jeb Rosen, Arian F. A. Smit, Aaron F. Straight, Mitchell R. Vollger, Travis J. Wheeler, Michael C. Schatz, Evan E. Eichler, Adam M. Phillippy, Winston Timp, Karen H. Miga, Rachel J. O’Neill
المصدر: Science
سنة النشر: 2022
مصطلحات موضوعية: Multidisciplinary, Article
الوصف: Mobile elements and repetitive genomic regions are sources of lineage-specific genomic innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such repeat elements, including those found in more complex regions of the genome, require a complete, linear genome assembly. We present a de novo repeat discovery and annotation of the T2T-CHM13 human reference genome. We identified previously unknown satellite arrays, expanded the catalog of variants and families for repeats and mobile elements, characterized classes of complex composite repeats, and located retroelement transduction events. We detected nascent transcription and delineated CpG methylation profiles to define the structure of transcriptionally active retroelements in humans, including those in centromeres. These data expand our insight into the diversity, distribution, and evolution of repetitive regions that have shaped the human genome.
اللغة: English
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82305c9eacec5ce887aab531ed3b11c5
https://europepmc.org/articles/PMC9301658/
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....82305c9eacec5ce887aab531ed3b11c5
قاعدة البيانات: OpenAIRE