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Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

Sasha A. Langley, Karen Miga, Gary Karpen, Charles H. Langley
doi: https://doi.org/10.1101/351569
Sasha A. Langley
1Lawrence Berkeley National Laboratory, Biological Systems and Engineering Division
2University of California - Berkeley, Department of Molecular and Cell Biology
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Karen Miga
3University of California - UC Santa Cruz Genomics Institute
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Gary Karpen
1Lawrence Berkeley National Laboratory, Biological Systems and Engineering Division
2University of California - Berkeley, Department of Molecular and Cell Biology
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Charles H. Langley
4University of California - Davis, Department of Evolution and Ecology
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  • For correspondence: chlangley@ucdavis.edu
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Abstract

Despite critical roles in chromosome segregation and disease, the repetitive structure and vast size of centromeres and their surrounding heterochromatic regions impede studies of genomic variation. We report here large-scale haplotypes (cenhaps) in humans that span the centromere-proximal regions of all metacentric chromosomes, including the arrays of highly repeated α-satellites on which centromeres form. Cenhaps reveal surprisingly deep diversity, including entire introgressed Neanderthal centromeres and equally ancient lineages among Africans. These centromere-spanning haplotypes contain variants, including large differences in α-satellite DNA content, which may influence the fidelity and bias of chromosome transmission. The discovery of cenhaps creates new opportunities to investigate their contribution to phenotypic variation, especially in meiosis and mitosis, as well as to more incisively model the unexpectedly rich evolution of these challenging genomic regions.

One Sentence Summary Genomic polymorphism across centromeric regions of humans is organized into large-scale haplotypes with great diversity, including entire Neanderthal centromeres.

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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 July 30, 2018.
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Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Sasha A. Langley, Karen Miga, Gary Karpen, Charles H. Langley
bioRxiv 351569; doi: https://doi.org/10.1101/351569
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Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Sasha A. Langley, Karen Miga, Gary Karpen, Charles H. Langley
bioRxiv 351569; doi: https://doi.org/10.1101/351569

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