From telomere to telomere: The transcriptional and epigenetic state of human repeat elements.
Journal
Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
entrez:
31
3
2022
pubmed:
1
4
2022
medline:
6
4
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35357925
doi: 10.1126/science.abk3112
pmc: PMC9301658
mid: NIHMS1804790
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
eabk3112Subventions
Organisme : NHGRI NIH HHS
ID : U24 HG010263
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM128857
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007445
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA240199
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA253481
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002939
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM103546
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG006620
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG010136
Pays : United States
Organisme : NHGRI NIH HHS
ID : R21 HG010548
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009909
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM123312
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009190
Pays : United States
Organisme : NIDDK NIH HHS
ID : R24 DK106766
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM132600
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200398
Pays : United States
Commentaires et corrections
Type : CommentIn
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