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The time is ripe to investigate human centromeres by long-read sequencing

The complete sequencing of human centromeres, which are filled with highly repetitive elements, has long been challenging. In human centromeres, α-satellite monomers of about 171 bp in length are the basic repeating units, but α-satellite monomers constitute the higher-order repeat (HOR) units, and...

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Detalles Bibliográficos
Autores principales: Suzuki, Yuta, Morishita, Shinichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502840/
https://www.ncbi.nlm.nih.gov/pubmed/34609504
http://dx.doi.org/10.1093/dnares/dsab021
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author Suzuki, Yuta
Morishita, Shinichi
author_facet Suzuki, Yuta
Morishita, Shinichi
author_sort Suzuki, Yuta
collection PubMed
description The complete sequencing of human centromeres, which are filled with highly repetitive elements, has long been challenging. In human centromeres, α-satellite monomers of about 171 bp in length are the basic repeating units, but α-satellite monomers constitute the higher-order repeat (HOR) units, and thousands of copies of highly homologous HOR units form large arrays, which have hampered sequence assembly of human centromeres. Because most HOR unit occurrences are covered by long reads of about 10 kb, the recent availability of much longer reads is expected to enable observation of individual HOR occurrences in terms of their single-nucleotide or structural variants. The time has come to examine the complete sequence of human centromeres.
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spelling pubmed-85028402021-10-13 The time is ripe to investigate human centromeres by long-read sequencing Suzuki, Yuta Morishita, Shinichi DNA Res Invited Review The complete sequencing of human centromeres, which are filled with highly repetitive elements, has long been challenging. In human centromeres, α-satellite monomers of about 171 bp in length are the basic repeating units, but α-satellite monomers constitute the higher-order repeat (HOR) units, and thousands of copies of highly homologous HOR units form large arrays, which have hampered sequence assembly of human centromeres. Because most HOR unit occurrences are covered by long reads of about 10 kb, the recent availability of much longer reads is expected to enable observation of individual HOR occurrences in terms of their single-nucleotide or structural variants. The time has come to examine the complete sequence of human centromeres. Oxford University Press 2021-10-05 /pmc/articles/PMC8502840/ /pubmed/34609504 http://dx.doi.org/10.1093/dnares/dsab021 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of Kazusa DNA Research Institute. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Invited Review
Suzuki, Yuta
Morishita, Shinichi
The time is ripe to investigate human centromeres by long-read sequencing
title The time is ripe to investigate human centromeres by long-read sequencing
title_full The time is ripe to investigate human centromeres by long-read sequencing
title_fullStr The time is ripe to investigate human centromeres by long-read sequencing
title_full_unstemmed The time is ripe to investigate human centromeres by long-read sequencing
title_short The time is ripe to investigate human centromeres by long-read sequencing
title_sort time is ripe to investigate human centromeres by long-read sequencing
topic Invited Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502840/
https://www.ncbi.nlm.nih.gov/pubmed/34609504
http://dx.doi.org/10.1093/dnares/dsab021
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