High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres.

Abstract:

:Accurate maps and DNA sequences for human subtelomere regions, along with detailed knowledge of subtelomere variation and long-range telomere-terminal haplotypes in individuals, are critical for understanding telomere function and its roles in human biology. Here, we use a highly automated whole genome mapping technology in nano-channel arrays to analyze large terminal human chromosome segments extending from chromosome-specific subtelomere sequences through subtelomeric repeat regions to terminal (TTAGGG)n repeat tracts. We establish detailed maps for subtelomere gap regions in the human reference sequence, detect many new large subtelomeric variants and demonstrate the feasibility of long-range haplotyping through segmentally duplicated subtelomere regions. These features make the method a uniquely valuable new tool for improving the quality of genome assemblies in complex DNA regions. Based on single molecule mapping of telomere-terminal DNA fragments, we provide proof of principle for a novel method to estimate telomere lengths linked to distinguishable telomeric haplotypes; this single-telomere genotyping method may ultimately enable delineation of human cis elements involved in telomere length regulation.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Young E,Pastor S,Rajagopalan R,McCaffrey J,Sibert J,Mak ACY,Kwok PY,Riethman H,Xiao M

doi

10.1093/nar/gkx017

subject

Has Abstract

pub_date

2017-05-19 00:00:00

pages

e73

issue

9

eissn

0305-1048

issn

1362-4962

pii

2979304

journal_volume

45

pub_type

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