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

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. Here we report the identification of 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 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.

Authors:
ORCiD logo [1]; ORCiD logo [2]; ORCiD logo [1]; ORCiD logo [2]
  1. Univ. of California, Berkeley, CA (United States); Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
  2. Univ. of California, Berkeley, CA (United States)
Publication Date:
Research Org.:
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Sponsoring Org.:
USDOE Office of Science (SC); National Institute of General Medical Sciences
OSTI Identifier:
1603515
Grant/Contract Number:  
[AC02-05CH11231; R01 GM117420; R01 GM119011]
Resource Type:
Accepted Manuscript
Journal Name:
eLife
Additional Journal Information:
[ Journal Volume: 8]; Journal ID: ISSN 2050-084X
Publisher:
eLife Sciences Publications, Ltd.
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; evolutionary biology; genetics and genomes; centromere; neanderthal; satellite DNA; heterochromatin; haplotype; 1000 genomes

Citation Formats

Langley, Sasha A., Miga, Karen H., Karpen, Gary H., and Langley, Charles H. Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA. United States: N. p., 2019. Web. doi:10.7554/eLife.42989.
Langley, Sasha A., Miga, Karen H., Karpen, Gary H., & Langley, Charles H. Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA. United States. doi:10.7554/eLife.42989.
Langley, Sasha A., Miga, Karen H., Karpen, Gary H., and Langley, Charles H. Tue . "Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA". United States. doi:10.7554/eLife.42989. https://www.osti.gov/servlets/purl/1603515.
@article{osti_1603515,
title = {Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA},
author = {Langley, Sasha A. and Miga, Karen H. and Karpen, Gary H. and Langley, Charles H.},
abstractNote = {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. Here we report the identification of 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 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.},
doi = {10.7554/eLife.42989},
journal = {eLife},
number = ,
volume = [8],
place = {United States},
year = {2019},
month = {6}
}

Journal Article:
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