دورية أكاديمية
أعرض في EDS

Heritable L1 retrotransposition in the mouse primordial germline and early embryo.

التفاصيل البيبلوغرافية
العنوان: Heritable L1 retrotransposition in the mouse primordial germline and early embryo.
المؤلفون: Richardson SR; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Gerdes P; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Gerhardt DJ; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia.; Invenra, Incorporated, Madison, Wisconsin 53719, USA., Sanchez-Luque FJ; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia.; Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, Pfizer-University of Granada-Andalusian Regional Government, PTS Granada, 18016 Granada, Spain., Bodea GO; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Muñoz-Lopez M; Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, Pfizer-University of Granada-Andalusian Regional Government, PTS Granada, 18016 Granada, Spain., Jesuadian JS; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Kempen MHC; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Carreira PE; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Jeddeloh JA; Roche Sequencing Solutions, Incorporated, Madison, Wisconsin 53719, USA., Garcia-Perez JL; Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research, Pfizer-University of Granada-Andalusian Regional Government, PTS Granada, 18016 Granada, Spain.; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom., Kazazian HH Jr; Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA., Ewing AD; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia., Faulkner GJ; Mater Research Institute-University of Queensland, Woolloongabba QLD 4102, Australia.; School of Biomedical Sciences.; Queensland Brain Institute, University of Queensland, Brisbane QLD 4072, Australia.
المصدر: Genome research [Genome Res] 2017 Aug; Vol. 27 (8), pp. 1395-1405. Date of Electronic Publication: 2017 May 08.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Cold Spring Harbor, N.Y. : Cold Spring Harbor Laboratory Press, c1995-
مواضيع طبية MeSH: Long Interspersed Nucleotide Elements*, Embryo, Mammalian/*metabolism, Animals ; Embryo, Mammalian/cytology ; Female ; Genomics/methods ; Germ Cells ; HeLa Cells ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mosaicism ; Whole Genome Sequencing/methods
مستخلص: LINE-1 (L1) retrotransposons are a noted source of genetic diversity and disease in mammals. To expand its genomic footprint, L1 must mobilize in cells that will contribute their genetic material to subsequent generations. Heritable L1 insertions may therefore arise in germ cells and in pluripotent embryonic cells, prior to germline specification, yet the frequency and predominant developmental timing of such events remain unclear. Here, we applied mouse retrotransposon capture sequencing (mRC-seq) and whole-genome sequencing (WGS) to pedigrees of C57BL/6J animals, and uncovered an L1 insertion rate of ≥1 event per eight births. We traced heritable L1 insertions to pluripotent embryonic cells and, strikingly, to early primordial germ cells (PGCs). New L1 insertions bore structural hallmarks of target-site primed reverse transcription (TPRT) and mobilized efficiently in a cultured cell retrotransposition assay. Together, our results highlight the rate and evolutionary impact of heritable L1 retrotransposition and reveal retrotransposition-mediated genomic diversification as a fundamental property of pluripotent embryonic cells in vivo.
(© 2017 Richardson et al.; Published by Cold Spring Harbor Laboratory Press.)
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معلومات مُعتمدة: United Kingdom Wellcome Trust; R01 GM099875 United States GM NIGMS NIH HHS
تواريخ الأحداث: Date Created: 20170510 Date Completed: 20180530 Latest Revision: 20181113
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC5538555
DOI: 10.1101/gr.219022.116
PMID: 28483779
قاعدة البيانات: MEDLINE
الوصف
تدمد:1549-5469
DOI:10.1101/gr.219022.116