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In Honor of Elizabeth Blackburn’s 75th Birthday: Celebrating the Discovery of Telomeres

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (31 December 2024) | Viewed by 7100

Special Issue Editors

Prof. Dr. Fabrizio D'Adda di Fagagna

E-Mail Website
Guest Editor
Fondazione IFOM Istituto Firc di Oncologia Molecolare, Milan, Italy
Interests: physiological consequences of DNA damage at the cellular and organismal level mainly in mammals; DNA damage response (DDR); DNA repair
Dr. Pawel Kordowitzki

E-Mail Website
Guest Editor
Department of Basic and Preclinical Sciences, Institute of Veterinary Medicine, Faculty of Biological and Veterinary Sciences, Nicolaus Copernicus University in Torun, 87-100 Torun, Poland
Interests: oocyte aging; telomeres; mitochondria; DNA-methylation; zoonotic diseases
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Special Issue Information

Dear Colleagues,

Elizabeth Blackburn was born on November 26th, 1948, in Hobart on the island of Tasmania, Australia. Both of her parents were doctors. Blackburn took an early interest in animals and nature and went on to study biochemistry at the university in Melbourne. She later received her Ph.D. from Cambridge University, England. Prof. Blackburn moved to Yale University in New Haven, USA, and later to the University of California in San Francisco, and she has taken an interest in the ethical implications of research and has contributed to the creation of a code regulating the field. Together with Carol W. Greider and Jack W. Szostak she received the Nobel Prize in Physiology or Medicine for "the discovery of how chromosomes are protected by telomeres and the enzyme telomerase" in 2009.

Telomeres are the genomic portions at the ends of linear chromosomes. Telomeric DNA in vertebrates is made of TTAGGG repeats bound by a set of proteins that modulate their biological functions and protect them from being recognized as DNA damage that triggers a DNA damage response (DDR). As standard DNA polymerases cannot fully replicate linear DNA templates in the absence of telomerase, a DNA-template-independent DNA polymerase, and because of nucleolytic processing, DNA replication results in the generation of chromosomes with progressively shortened telomeres. As telomeres reach a critical length, they become unable to bind enough telomere-capping proteins and are sensed as exposed DNA ends, which activates the DDR pathways that, through the induction of the cell cycle inhibitors p21 and p16, arrest proliferation. Such short telomeres, however, retain a sufficient number of telomere-binding proteins to inhibit DNA repair and avoid fusions, and consequently fuel a persistent DNA damage signal that enforces a permanent DNA damage-induced proliferative arrest. This initiates and maintains cellular senescence, a key contributor to organismal ageing and multiple age-related diseases.

This Anniversary Special Issue entitled: "In Honor of Elizabeth Blackburn's 75th Birthday: Celebrating the Discovery of Telomeres", will be dedicated to Prof. Blackburn's achievements and discoveries regarding telomeres in the year of her 75th birthday. Original research papers, reviews and case studies reporting innovative and novel telomere-related research or studies on telomere-related diseases, are herein welcome.

Prof. Dr. Fabrizio D'Adda di Fagagna
Dr. Pawel Kordowitzki
Guest Editors

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Published Papers (4 papers)

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Research

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14 pages, 3729 KiB  
Article
C-Terminal Extended Domain-Independent Telomere Maintenance: Modeling the Function of TIN2 Isoforms in Mus musculus
by Chiao-Ming Huang, Yi-Ling Shen, Chia-Lo Ho, Tzeng-Erh Chen, Hsuan-Yu Hsia, Zhou Songyang and Liuh-Yow Chen
Int. J. Mol. Sci. 2025, 26(6), 2414; https://doi.org/10.3390/ijms26062414 - 7 Mar 2025
Viewed by 507
Abstract
TIN2 (TERF1 interacting nuclear factor 2) is a telomeric shelterin complex component, essential for telomere protection and early embryonic development in mammals. In humans, TIN2 isoforms arise from alternative splicing, but their specific roles in vivo remain unclear. Here, we explore TIN2 isoform [...] Read more.
TIN2 (TERF1 interacting nuclear factor 2) is a telomeric shelterin complex component, essential for telomere protection and early embryonic development in mammals. In humans, TIN2 isoforms arise from alternative splicing, but their specific roles in vivo remain unclear. Here, we explore TIN2 isoform functions in the laboratory mouse Mus musculus. Our comparative analysis of TIN2 protein sequences reveals that mouse TIN2 (TINF2) closely resembles the human TIN2L isoform, both of which harbor a C-terminal extended domain (CTED) absent from the human TIN2 small (TIN2S) isoform. To further characterize the functions of TIN2 isoforms, we generated a Tinf2 LD (long-form deficiency) allele in M. musculus encoding a short form of TINF2 lacking the CTED. Mice heterozygous or homozygous for this Tinf2 LD allele were viable, fertile, and showed no tissue abnormalities. Furthermore, protein product of Tinf2 LD allele localized to telomeres and maintained telomere integrity in mouse embryonic fibroblasts, demonstrating that the CTED is dispensable for telomere protection and normal development in mice. These findings indicate functional redundancy among TIN2 isoforms and underscore the utility of the Tinf2 LD model for uncovering isoform-specific mechanisms of telomere regulation. Full article
(This article belongs to the Special Issue In Honor of Elizabeth Blackburn’s 75th Birthday: Celebrating the Discovery of Telomeres)
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16 pages, 848 KiB  
Article
Leukocyte Telomere Length as a Marker of Chronic Complications in Type 2 Diabetes Patients: A Risk Assessment Study
by Krzysztof Sawicki, Magdalena Matysiak-Kucharek, Daria Gorczyca-Siudak, Marcin Kruszewski, Jacek Kurzepa, Lucyna Kapka-Skrzypczak and Piotr Dziemidok
Int. J. Mol. Sci. 2025, 26(1), 290; https://doi.org/10.3390/ijms26010290 - 31 Dec 2024
Viewed by 738
Abstract
Telomere shortening has been linked to type 2 diabetes (T2D) and its complications. This study aims to determine whether leukocyte telomere length (LTL) could be a useful marker in predicting the onset of complications in patients suffering from T2D. Enrolled study subjects were [...] Read more.
Telomere shortening has been linked to type 2 diabetes (T2D) and its complications. This study aims to determine whether leukocyte telomere length (LTL) could be a useful marker in predicting the onset of complications in patients suffering from T2D. Enrolled study subjects were 147 T2D patients. LTL was measured using a quantitative PCR method. Key subject’s demographics and other clinical characteristics were also included. T2D patients with the shortest LTL had higher TC and non-HDL levels, compared to subjects with the longest LTL (p = 0.013). Also, T2D patients suffering from diabetic nephropathy showed significant differences in LDL levels (p = 0.023). While in the group of T2D patients with diabetic retinopathy, significant differences were observed for parameters, such as duration of diabetes (p = 0.043), HbA1c (p = 0.041), TC (p = 0.003), LDL (p = 0.015), Non-HDL (p = 0.004) and TG (p = 0.045). Logistic regression analysis confirmed a significant risk of association of TC and Non-HDL levels with LTL in the 3rd tertile LTL for the crude model adjusted for sex and age, with respective odds ratios of 0.71 (95% CI 0.56–0.91) and 0.73 (95% CI 0.58–0.91). No significant associations were found between LTL in T2D patients and the prevalence of common T2D complications. Nevertheless, a significant association was demonstrated between LTL and some markers of dyslipidemia, including in T2D patients with either diabetic nephropathy or retinopathy. Therefore, analysis of LTL in T2D patients’ leukocytes demonstrates a promising potential as a marker in predicting the onset of complications in T2D. This could also help in establishing an effective treatment strategy or even prevent and delay the onset of these severe complications. Full article
(This article belongs to the Special Issue In Honor of Elizabeth Blackburn’s 75th Birthday: Celebrating the Discovery of Telomeres)
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Review

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12 pages, 1304 KiB  
Review
DNA Methylation and Telomeres—Their Impact on the Occurrence of Atrial Fibrillation during Cardiac Aging
by Arkadiusz Grzeczka, Szymon Graczyk and Pawel Kordowitzki
Int. J. Mol. Sci. 2023, 24(21), 15699; https://doi.org/10.3390/ijms242115699 - 28 Oct 2023
Cited by 6 | Viewed by 2648
Abstract
Atrial fibrillation (AF) is the most common arrhythmia in humans. AF is characterized by irregular and increased atrial muscle activation. This high-frequency activation obliterates the synchronous work of the atria and ventricles, reducing myocardial performance, which can lead to severe heart failure or [...] Read more.
Atrial fibrillation (AF) is the most common arrhythmia in humans. AF is characterized by irregular and increased atrial muscle activation. This high-frequency activation obliterates the synchronous work of the atria and ventricles, reducing myocardial performance, which can lead to severe heart failure or stroke. The risk of developing atrial fibrillation depends largely on the patient’s history. Cardiovascular diseases are considered aging-related pathologies; therefore, deciphering the role of telomeres and DNA methylation (mDNA), two hallmarks of aging, is likely to contribute to a better understanding and prophylaxis of AF. In honor of Prof. Elizabeth Blackburn’s 75th birthday, we dedicate this review to the discovery of telomeres and her contribution to research on aging. Full article
(This article belongs to the Special Issue In Honor of Elizabeth Blackburn’s 75th Birthday: Celebrating the Discovery of Telomeres)
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14 pages, 1576 KiB  
Review
p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes
by Jeanne Rakotopare and Franck Toledo
Int. J. Mol. Sci. 2023, 24(19), 14940; https://doi.org/10.3390/ijms241914940 - 6 Oct 2023
Cited by 5 | Viewed by 2532
Abstract
Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance. Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause [...] Read more.
Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance. Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and alter hematopoiesis, but also revealed features of Diamond–Blackfan anemia (DBA) or Fanconi anemia (FA), two BMFSs, respectively, caused by defects in ribosomal function or DNA repair. p53 downregulates several genes mutated in DC, either by binding to promoter sequences (DKC1) or indirectly via the DREAM repressor complex (RTEL1, DCLRE1B), and the p53-DREAM pathway represses 22 additional telomere-related genes. Interestingly, mutations in any DC-causal gene will cause telomere dysfunction and subsequent p53 activation to further promote the repression of p53-DREAM targets. Similarly, ribosomal dysfunction and DNA lesions cause p53 activation, and p53-DREAM targets include the DBA-causal gene TSR2, at least 9 FA-causal genes, and 38 other genes affecting ribosomes or the FA pathway. Furthermore, patients with BMFSs may exhibit brain abnormalities, and p53-DREAM represses 16 genes mutated in microcephaly or cerebellar hypoplasia. In sum, positive feedback loops and the repertoire of p53-DREAM targets likely contribute to partial phenotypic overlaps between BMFSs of distinct molecular origins. Full article
(This article belongs to the Special Issue In Honor of Elizabeth Blackburn’s 75th Birthday: Celebrating the Discovery of Telomeres)
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