Human telomere length is chromosome specific and conserved across individuals.

Autor:	Karimian K; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Biochemistry, Cellular and Molecular Biology Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Groot A; Department of Molecular Cell and Developmental Biology, University of California, Santa Cruz., Huso V; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Biochemistry, Cellular and Molecular Biology Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Kahidi R; University of Calgary, Calgary, AB, Canada., Tan KT; Harvard Medical School, Department of Genetics, Boston, MA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.; Broad Institute, Cancer Program, Cambridge, MA., Sholes S; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Biochemistry, Cellular and Molecular Biology Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Present address Merck & Co., 770 Sumneytown Pike, West Point, PA 19486., Keener R; Department of Biomedical Engineering, Johns Hopkins University., McDyer JF; Pulmonary, Allergy, Critical Care, and Sleep Medicine Division, Department of Medicine, University of Pittsburgh., Alder JK; Pulmonary, Allergy, Critical Care, and Sleep Medicine Division, Department of Medicine, University of Pittsburgh., Li H; Dana-Farber Cancer Institute, Department of Data Sciences, Boston, MA.; Harvard Medical School, Department of Biomedical Informatics, Boston, MA., Rechtsteiner A; Department of Molecular Cell and Developmental Biology, University of California, Santa Cruz., Greider CW; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Department of Molecular Cell and Developmental Biology, University of California, Santa Cruz.
Jazyk:	angličtina
Zdroj:	BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 13. Date of Electronic Publication: 2024 Jan 13.
DOI:	10.1101/2023.12.21.572870
Abstrakt:	Short telomeres cause age-related disease and long telomeres predispose to cancer; however, the mechanisms regulating telomere length are unclear. To probe these mechanisms, we developed a nanopore sequencing method, Telomere Profiling, that is easy to implement, precise, and cost effective with broad applications in research and the clinic. We sequenced telomeres from individuals with short telomere syndromes and found similar telomere lengths to the clinical FlowFISH assay. We mapped telomere reads to specific chromosome end and identified both chromosome end-specific and haplotype-specific telomere length distributions. In the T2T HG002 genome, where the average telomere length is 5kb, we found a remarkable 6kb difference in lengths between some telomeres. Further, we found that specific chromosome ends were consistently shorter or longer than the average length across 147 individuals. The presence of conserved chromosome end-specific telomere lengths suggests there are new paradigms in telomere biology that are yet to be explored. Understanding the mechanisms regulating length will allow deeper insights into telomere biology that can lead to new approaches to disease. Competing Interests: Competing interest declaration CWG and KK are inventors of US Patent PCT/US2023/073375 titled « Methods for telomere length measurement ».
Databáze:	MEDLINE
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