Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis

Repair Pathway Choices and Consequences at the Double-Strand Break

(2016) Raphael Ceccaldi et al.   TRENDS IN CELL BIOLOGY

Chromothripsis and Kataegis Induced by Telomere Crisis

(2015) John Maciejowski et al.   CELL

BRCA1 and CtIP promote alternative non-homologous end-joining at uncapped telomeres

(2015) S. Badie et al.   EMBO JOURNAL

Chromothripsis from DNA damage in micronuclei

(2015) Cheng-Zhong Zhang et al.   NATURE

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

(2015) Oriol Calvete et al.   Nature Communications

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia

(2014) Yilong Li et al.   NATURE

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

Single strand DNA binding proteins 1 and 2 protect newly replicated telomeres

(2013) Peili Gu et al.   CELL RESEARCH

p16INK4a protects against dysfunctional telomere–induced ATR-dependent DNA damage responses

(2013) Yang Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

Cancer chromosomes going to POT1

(2013) Sandy Chang   NATURE GENETICS

TPP1 OB-Fold Domain Controls Telomere Maintenance by Recruiting Telomerase to Chromosome Ends

(2012) Franklin L. Zhong et al.   CELL

Chromothripsis: Chromosomes in Crisis

(2012) Mathew J.K. Jones et al.   DEVELOPMENTAL CELL

ATM/ATR checkpoint activation downregulates CDC25C to prevent mitotic entry with uncapped telomeres

(2012) Maria Thanasoula et al.   EMBO JOURNAL

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

(2012) Jayakrishnan Nandakumar et al.   NATURE

Removal of Shelterin Reveals the Telomere End-Protection Problem

(2012) A. Sfeir et al.   SCIENCE

Double-Strand Break End Resection and Repair Pathway Choice

(2011) Lorraine S. Symington et al.   Annual Review of Genetics

Essential roles for Pot1b in HSC self-renewal and survival

(2011) Y. Wang et al.   BLOOD

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Targeting Abnormal DNA Repair in Therapy-Resistant Breast Cancers

(2011) L. A. Tobin et al.   MOLECULAR CANCER RESEARCH

TERRA and hnRNPA1 orchestrate an RPA-to-POT1 switch on telomeric single-stranded DNA

(2011) Rachel Litman Flynn et al.   NATURE

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

(2011) Víctor Quesada et al.   NATURE GENETICS

The E3 ubiquitin ligase Rnf8 stabilizes Tpp1 to promote telomere end protection

(2011) Rekha Rai et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cells expressing FLT3/ITD mutations exhibit elevated repair errors generated through alternative NHEJ pathways: implications for genomic instability and therapy

(2010) J. Fan et al.   BLOOD

The function of classical and alternative non-homologous end-joining pathways in the fusion of dysfunctional telomeres

(2010) Rekha Rai et al.   EMBO JOURNAL

SNMIB/Apollo protects leading-strand telomeres against NHEJ-mediated repair

(2010) Yung C Lam et al.   EMBO JOURNAL

POT1–TPP1 enhances telomerase processivity by slowing primer dissociation and aiding translocation

(2010) Chrysa M Latrick et al.   EMBO JOURNAL

Alternative end-joining catalyzes robust IgH locus deletions and translocations in the combined absence of ligase 4 and Ku70

(2010) C. Boboila et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Telomeres and telomerase in cancer

(2009) S. E. Artandi et al.   CARCINOGENESIS

Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice

(2009) P. Martinez et al.   GENES & DEVELOPMENT

How telomeric protein POT1 avoids RNA to achieve specificity for single-stranded DNA

(2009) J. Nandakumar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

How Shelterin Protects Mammalian Telomeres

(2008) Wilhelm Palm et al.   Annual Review of Genetics

Functional Dissection of Human and Mouse POT1 Proteins

(2008) W. Palm et al.   MOLECULAR AND CELLULAR BIOLOGY

Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita

(2008) H. He et al.   MOLECULAR AND CELLULAR BIOLOGY

An Oncogene-Induced DNA Damage Model for Cancer Development

(2008) T. D. Halazonetis et al.   SCIENCE

Alternative-NHEJ Is a Mechanistically Distinct Pathway of Mammalian Chromosome Break Repair

(2008) Nicole Bennardo et al.   PLoS Genetics