In:
eLife, eLife Sciences Publications, Ltd, Vol. 8 ( 2019-06-25)
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.
Type of Medium:
Online Resource
ISSN:
2050-084X
DOI:
10.7554/eLife.42989.001
DOI:
10.7554/eLife.42989.002
DOI:
10.7554/eLife.42989.007
DOI:
10.7554/eLife.42989.008
DOI:
10.7554/eLife.42989.003
DOI:
10.7554/eLife.42989.004
DOI:
10.7554/eLife.42989.005
DOI:
10.7554/eLife.42989.006
DOI:
10.7554/eLife.42989.009
DOI:
10.7554/eLife.42989.010
DOI:
10.7554/eLife.42989.011
DOI:
10.7554/eLife.42989.012
DOI:
10.7554/eLife.42989.019
DOI:
10.7554/eLife.42989.020
DOI:
10.7554/eLife.42989.021
DOI:
10.7554/eLife.42989.013
DOI:
10.7554/eLife.42989.014
DOI:
10.7554/eLife.42989.015
DOI:
10.7554/eLife.42989.016
DOI:
10.7554/eLife.42989.017
DOI:
10.7554/eLife.42989.018
DOI:
10.7554/eLife.42989.022
DOI:
10.7554/eLife.42989.025
DOI:
10.7554/eLife.42989.023
DOI:
10.7554/eLife.42989.024
DOI:
10.7554/eLife.42989.026
DOI:
10.7554/eLife.42989.028
DOI:
10.7554/eLife.42989.029
Language:
English
Publisher:
eLife Sciences Publications, Ltd
Publication Date:
2019
detail.hit.zdb_id:
2687154-3