دورية أكاديمية
أعرض في EDS

Discovery of unfixed endogenous retrovirus insertions in diverse human populations.

التفاصيل البيبلوغرافية
العنوان: Discovery of unfixed endogenous retrovirus insertions in diverse human populations.
المؤلفون: Wildschutte JH; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109;, Williams ZH; Department of Molecular Biology and Microbiology, Tufts University School of Medicine, Boston, MA 02111;, Montesion M; Department of Molecular Biology and Microbiology, Tufts University School of Medicine, Boston, MA 02111;, Subramanian RP; Department of Molecular Biology and Microbiology, Tufts University School of Medicine, Boston, MA 02111;, Kidd JM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109., Coffin JM; Department of Molecular Biology and Microbiology, Tufts University School of Medicine, Boston, MA 02111; john.coffin@tufts.edu.
المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2016 Apr 19; Vol. 113 (16), pp. E2326-34. Date of Electronic Publication: 2016 Mar 21.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Washington, DC : National Academy of Sciences
مواضيع طبية MeSH: Alleles* , Genetic Loci* , Mutagenesis, Insertional* , Polymorphism, Genetic* , Terminal Repeat Sequences*, Endogenous Retroviruses/*genetics, Female ; Humans ; Male
مستخلص: Endogenous retroviruses (ERVs) have contributed to more than 8% of the human genome. The majority of these elements lack function due to accumulated mutations or internal recombination resulting in a solitary (solo) LTR, although members of one group of human ERVs (HERVs), HERV-K, were recently active with members that remain nearly intact, a subset of which is present as insertionally polymorphic loci that include approximately full-length (2-LTR) and solo-LTR alleles in addition to the unoccupied site. Several 2-LTR insertions have intact reading frames in some or all genes that are expressed as functional proteins. These properties reflect the activity of HERV-K and suggest the existence of additional unique loci within humans. We sought to determine the extent to which other polymorphic insertions are present in humans, using sequenced genomes from the 1000 Genomes Project and a subset of the Human Genome Diversity Project panel. We report analysis of a total of 36 nonreference polymorphic HERV-K proviruses, including 19 newly reported loci, with insertion frequencies ranging from <0.0005 to >0.75 that varied by population. Targeted screening of individual loci identified three new unfixed 2-LTR proviruses within our set, including an intact provirus present at Xq21.33 in some individuals, with the potential for retained infectivity.
التعليقات: Comment in: Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4240-2. (PMID: 27071126)
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معلومات مُعتمدة: R35 CA200421 United States CA NCI NIH HHS; R37 CA089441 United States CA NCI NIH HHS; T32 AI007422 United States AI NIAID NIH HHS; DP5 OD009154 United States OD NIH HHS; F32 GM112339 United States GM NIGMS NIH HHS
فهرسة مساهمة: Keywords: 1000 Genomes Project; HERV-K; HML-2; Human Genome Diversity Project; human endogenous retrovirus
سلسلة جزيئية: GENBANK KU054242; KU054309
تواريخ الأحداث: Date Created: 20160323 Date Completed: 20160902 Latest Revision: 20220410
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC4843416
DOI: 10.1073/pnas.1602336113
PMID: 27001843
قاعدة البيانات: MEDLINE
الوصف
تدمد:1091-6490
DOI:10.1073/pnas.1602336113