دورية أكاديمية
أعرض في EDS

The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.

التفاصيل البيبلوغرافية
العنوان: The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.
المؤلفون: Frank AK; Department of Microbiology and Molecular Genetics, University of California, Davis, Davis, California, United States of America., Tran DC; Department of Microbiology and Molecular Genetics, University of California, Davis, Davis, California, United States of America., Qu RW; Department of Microbiology and Molecular Genetics, University of California, Davis, Davis, California, United States of America., Stohr BA; Department of Pathology, University of California, San Francisco, San Francisco, California, United States of America., Segal DJ; Genome Center and Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, California, United States of America., Xu L; Department of Microbiology and Molecular Genetics, University of California, Davis, Davis, California, United States of America.
المصدر: PLoS genetics [PLoS Genet] 2015 Jul 31; Vol. 11 (7), pp. e1005410. Date of Electronic Publication: 2015 Jul 31 (Print Publication: 2015).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: San Francisco, CA : Public Library of Science, c2005-
مواضيع طبية MeSH: Telomerase/*metabolism , Telomere/*metabolism , Telomere Shortening/*genetics , Telomere-Binding Proteins/*genetics, Aminopeptidases/metabolism ; Cell Line, Tumor ; DNA Repair/genetics ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/metabolism ; Dyskeratosis Congenita/genetics ; Gene Knock-In Techniques ; HCT116 Cells ; Humans ; Mutation/genetics ; Serine Proteases/metabolism ; Shelterin Complex ; Telomere Homeostasis/genetics ; Telomeric Repeat Binding Protein 1/genetics ; Tripeptidyl-Peptidase 1
مستخلص: Dyskeratosis Congenita (DC) is a heritable multi-system disorder caused by abnormally short telomeres. Clinically diagnosed by the mucocutaneous symptoms, DC patients are at high risk for bone marrow failure, pulmonary fibrosis, and multiple types of cancers. We have recapitulated the most common DC-causing mutation in the shelterin component TIN2 by introducing a TIN2-R282H mutation into cultured telomerase-positive human cells via a knock-in approach. The resulting heterozygous TIN2-R282H mutation does not perturb occupancy of other shelterin components on telomeres, result in activation of telomeric DNA damage signaling or exhibit other characteristics indicative of a telomere deprotection defect. Using a novel assay that monitors the frequency and extension rate of telomerase activity at individual telomeres, we show instead that telomerase elongates telomeres at a reduced frequency in TIN2-R282H heterozygous cells; this recruitment defect is further corroborated by examining the effect of this mutation on telomerase-telomere co-localization. These observations suggest a direct role for TIN2 in mediating telomere length through telomerase, separable from its role in telomere protection.
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معلومات مُعتمدة: T32 CA108459 United States CA NCI NIH HHS
المشرفين على المادة: 0 (Shelterin Complex)
0 (TINF2 protein, human)
0 (Telomere-Binding Proteins)
0 (Telomeric Repeat Binding Protein 1)
0 (Tripeptidyl-Peptidase 1)
EC 2.7.7.49 (Telomerase)
EC 3.4.- (Serine Proteases)
EC 3.4.11.- (Aminopeptidases)
EC 3.4.14.- (Dipeptidyl-Peptidases and Tripeptidyl-Peptidases)
تواريخ الأحداث: Date Created: 20150801 Date Completed: 20160503 Latest Revision: 20211203
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC4521702
DOI: 10.1371/journal.pgen.1005410
PMID: 26230315
قاعدة البيانات: MEDLINE
الوصف
تدمد:1553-7404
DOI:10.1371/journal.pgen.1005410