New in Centromere Genomics: Lessons from the First T2T Human Genome Assembly

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Abstract

With the recent development of long-read sequencing technologies, it is now possible for the first time to read a complete gapless sequence of the human genome. The result was the first T2T (telomere-to-telomere) genomic assembly, published by an international consortium of scientists in 2022. The most significant contribution of the new assembly were the centromeric regions consisting of highly repetitive satellite DNA. In this review, we will briefly list the major achievements of the T2T consortium related to centromeres and take a closer look at the unexpected findings of cytogenetic magnitude that analysis of first assembled human centromeres has brought, such as the “split” centromeres of chromosomes 3 and 4, mega-inversion in the active centromere array of chromosome 1, haplotypic epialleles in the centromere of X chromosome and the macro-repeats found in several centromeres.

About the authors

L. I. Uralsky

Sirius University of Science and Technology; Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences

Author for correspondence.
Email: uralskiy.li@talantiuspeh.ru
Russia, 354340, Sirius; Russia, 119991, Moscow

I. A. Alexandrov

Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences; Center for Bioinformatics and Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University; Research Center of Biotechnology of the Russian Academy of Sciences

Email: uralskiy.li@talantiuspeh.ru
Russia, 119991, Moscow; Russia, 199034, Saint Petersburg; Russia, 119071, Moscow

F. D. Ryabov

National Research University, Higher School of Economics

Email: uralskiy.li@talantiuspeh.ru
Russia, 109028, Moscow

A. L. Lapidus

Center for Bioinformatics and Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University

Email: uralskiy.li@talantiuspeh.ru
Russia, 199034, Saint Petersburg

E. I. Rogaev

Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences; UMass Chan Medical School, Department of Psychiatry

Email: uralskiy.li@talantiuspeh.ru
Russia, 119991, Moscow; USA, 01655, MA, Shrewsbury

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