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Ongoing human chromosome end extension driven by a primate ancestral genomic region revealed by analysis of BioNano genomics data

View ORCID ProfileHaojing Shao, Chenxi Zhou, View ORCID ProfileMinh Duc Cao, View ORCID ProfileLachlan J.M. Coin
doi: https://doi.org/10.1101/108365
Haojing Shao
1 Institute for Molecular Bioscience, University of Queensland, St Lucia, Brisbane, QLD 4072 Australia
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Chenxi Zhou
1 Institute for Molecular Bioscience, University of Queensland, St Lucia, Brisbane, QLD 4072 Australia
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Minh Duc Cao
1 Institute for Molecular Bioscience, University of Queensland, St Lucia, Brisbane, QLD 4072 Australia
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Lachlan J.M. Coin
1 Institute for Molecular Bioscience, University of Queensland, St Lucia, Brisbane, QLD 4072 Australia
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  • ORCID record for Lachlan J.M. Coin
  • For correspondence: l.coin@imb.uq.edu.au
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ABSTRACT

The majority of human chromosome ends remain incomplete due to their highly repetitive structure. In this study, we use BioNano data to anchor and extend chromosome ends from two European trios as well as two unrelated Asian genomes. Two thirds of BioNano assembled chromosome ends are structurally divergent from the reference genome, including both deletions and extensions. The majority of extensions are homologous to sequences on chromosome 1p, 5q and 19p. These extensions are heritable and in some cases divergent between Asian and European samples. We identified two sequence families in these sequences which have undergone substantial duplication in multiple primate lineages, leading to the formation of new fusion genes. We show that these sequence families have arisen from progenitor interstitial sequence on the ancestral primate chromosome 7. Comparison of chromosome end sequences from 15 species revealed that chromosome end divergence matches the corresponding phylogenetic relationship and revealed a rate of chromosome extension since the primate divergence of 80-440 kbp per million years.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted February 14, 2017.
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Ongoing human chromosome end extension driven by a primate ancestral genomic region revealed by analysis of BioNano genomics data
Haojing Shao, Chenxi Zhou, Minh Duc Cao, Lachlan J.M. Coin
bioRxiv 108365; doi: https://doi.org/10.1101/108365
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Ongoing human chromosome end extension driven by a primate ancestral genomic region revealed by analysis of BioNano genomics data
Haojing Shao, Chenxi Zhou, Minh Duc Cao, Lachlan J.M. Coin
bioRxiv 108365; doi: https://doi.org/10.1101/108365

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