Recombination between heterologous human acrocentric chromosomes

Andrea Guarracino, Silvia Buonaiuto, Leonardo Gomes Lima, Tamara Potapova, Arang Rhie, Sergey Koren, Boris Rubinstein, Christian Fischer, Jennifer L. Gerton, Adam M. Phillippy, Vincenza Colonna and Erik Garrison ()
Additional contact information
Andrea Guarracino: University of Tennessee Health Science Center
Silvia Buonaiuto: Institute of Genetics and Biophysics, National Research Council
Leonardo Gomes Lima: Stowers Institute for Medical Research
Tamara Potapova: Stowers Institute for Medical Research
Arang Rhie: National Institutes of Health
Sergey Koren: National Institutes of Health
Boris Rubinstein: Stowers Institute for Medical Research
Christian Fischer: University of Tennessee Health Science Center
Jennifer L. Gerton: Stowers Institute for Medical Research
Adam M. Phillippy: National Institutes of Health
Vincenza Colonna: University of Tennessee Health Science Center
Erik Garrison: University of Tennessee Health Science Center

Nature, 2023, vol. 617, issue 7960, 335-343

Abstract: Abstract The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications1,2. Although the resolution of these regions in the first complete assembly of a human genome—the Telomere-to-Telomere Consortium’s CHM13 assembly (T2T-CHM13)—provided a model of their homology3, it remained unclear whether these patterns were ancestral or maintained by ongoing recombination exchange. Here we show that acrocentric chromosomes contain pseudo-homologous regions (PHRs) indicative of recombination between non-homologous sequences. Utilizing an all-to-all comparison of the human pangenome from the Human Pangenome Reference Consortium4 (HPRC), we find that contigs from all of the SAACs form a community. A variation graph5 constructed from centromere-spanning acrocentric contigs indicates the presence of regions in which most contigs appear nearly identical between heterologous acrocentric chromosomes in T2T-CHM13. Except on chromosome 15, we observe faster decay of linkage disequilibrium in the pseudo-homologous regions than in the corresponding short and long arms, indicating higher rates of recombination6,7. The pseudo-homologous regions include sequences that have previously been shown to lie at the breakpoint of Robertsonian translocations8, and their arrangement is compatible with crossover in inverted duplications on chromosomes 13, 14 and 21. The ubiquity of signals of recombination between heterologous acrocentric chromosomes seen in the HPRC draft pangenome suggests that these shared sequences form the basis for recurrent Robertsonian translocations, providing sequence and population-based confirmation of hypotheses first developed from cytogenetic studies 50 years ago9.

Date: 2023
References: Add references at CitEc
Citations: View citations in EconPapers (4)

Downloads: (external link)
https://www.nature.com/articles/s41586-023-05976-y Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:617:y:2023:i:7960:d:10.1038_s41586-023-05976-y

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/s41586-023-05976-y

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().