Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

Autoři: Eleanor Young aff001;  Heba Z. Abid aff001;  Pui-Yan Kwok aff002;  Harold Riethman aff005;  Ming Xiao aff001
Působiště autorů: School of Biomedical Engineering, Drexel University, Philadelphia, PA, United States of America aff001;  Cardiovascular Research Institute, University of California–San Francisco, San Francisco, CA, United States of America aff002;  Department of Dermatology, University of California–San Francisco, San Francisco, CA, United States of America aff003;  Institute for Human Genetics, University of California–San Francisco, San Francisco, CA, United States of America aff004;  Medical Diagnostic & Translational Sciences, Old Dominium University, Norfolk, VA, United States of America aff005;  Institute of Molecular Medicine and Infectious Disease in the School of Medicine, Drexel University, Philadelphia, PA, United States of America aff006
Vyšlo v časopise: Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. PLoS Genet 16(1): e32767. doi:10.1371/journal.pgen.1008347
Kategorie: Research Article
doi: 10.1371/journal.pgen.1008347


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.

Klíčová slova:

Haplotypes – Human genomics – Chromosome mapping – Chromosomes – Repeated sequences – Sequence assembly tools – Sequence motif analysis – Telomeres


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