Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.
Detailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. However, the abundance of large evolutionarily recent s...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2020-01-01
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| Series: | PLoS Genetics |
| Online Access: | https://doi.org/10.1371/journal.pgen.1008347 |
| _version_ | 1818348775673954304 |
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| author | Eleanor Young Heba Z Abid Pui-Yan Kwok Harold Riethman Ming Xiao |
| author_facet | Eleanor Young Heba Z Abid Pui-Yan Kwok Harold Riethman Ming Xiao |
| author_sort | Eleanor Young |
| collection | DOAJ |
| description | Detailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. However, the abundance of large evolutionarily recent segmental duplications and high levels of large structural variations have complicated both the mapping and sequence characterization of human subtelomere regions. Here, we use high throughput optical mapping of large single DNA molecules in nanochannel arrays for 154 human genomes from 26 populations to present a comprehensive look at human subtelomere structure and variation. The results catalog many novel long-range subtelomere haplotypes and determine the frequencies and contexts of specific subtelomeric duplicons on each chromosome arm, helping to clarify the currently ambiguous nature of many specific subtelomere structures as represented in the current reference sequence (HG38). The organization and content of some duplicons in subtelomeres appear to show both chromosome arm and population-specific trends. Based upon these trends we estimate a timeline for the spread of these duplication blocks. |
| first_indexed | 2024-12-13T17:55:25Z |
| format | Article |
| id | doaj.art-5c763bad0da54f7cb953215ad0f77387 |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2024-12-13T17:55:25Z |
| publishDate | 2020-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-5c763bad0da54f7cb953215ad0f773872022-12-21T23:36:23ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042020-01-01161e100834710.1371/journal.pgen.1008347Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.Eleanor YoungHeba Z AbidPui-Yan KwokHarold RiethmanMing XiaoDetailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. However, the abundance of large evolutionarily recent segmental duplications and high levels of large structural variations have complicated both the mapping and sequence characterization of human subtelomere regions. Here, we use high throughput optical mapping of large single DNA molecules in nanochannel arrays for 154 human genomes from 26 populations to present a comprehensive look at human subtelomere structure and variation. The results catalog many novel long-range subtelomere haplotypes and determine the frequencies and contexts of specific subtelomeric duplicons on each chromosome arm, helping to clarify the currently ambiguous nature of many specific subtelomere structures as represented in the current reference sequence (HG38). The organization and content of some duplicons in subtelomeres appear to show both chromosome arm and population-specific trends. Based upon these trends we estimate a timeline for the spread of these duplication blocks.https://doi.org/10.1371/journal.pgen.1008347 |
| spellingShingle | Eleanor Young Heba Z Abid Pui-Yan Kwok Harold Riethman Ming Xiao Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. PLoS Genetics |
| title | Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. |
| title_full | Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. |
| title_fullStr | Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. |
| title_full_unstemmed | Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. |
| title_short | Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. |
| title_sort | comprehensive analysis of human subtelomeres by whole genome mapping |
| url | https://doi.org/10.1371/journal.pgen.1008347 |
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