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 Resjournal_title
Nucleic acids researchauthors
Young E,Pastor S,Rajagopalan R,McCaffrey J,Sibert J,Mak ACY,Kwok PY,Riethman H,Xiao Mdoi
10.1093/nar/gkx017subject
Has Abstractpub_date
2017-05-19 00:00:00pages
e73issue
9eissn
0305-1048issn
1362-4962pii
2979304journal_volume
45pub_type
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