Circular DNA in the human germline and its association with recombination

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Standard

Circular DNA in the human germline and its association with recombination. / Henriksen, Rasmus Amund; Jenjaroenpun, Piroon; Sjøstrøm, Ida Borup; Reveles Jensen, Kristian; Prada-Luengo, Iñigo; Wongsurawat, Thidathip; Nookaew, Intawat; Regenberg, Birgitte.

In: Molecular Cell, Vol. 82, No. 1, 2022, p. 209-217.e7.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Henriksen, RA, Jenjaroenpun, P, Sjøstrøm, IB, Reveles Jensen, K, Prada-Luengo, I, Wongsurawat, T, Nookaew, I & Regenberg, B 2022, 'Circular DNA in the human germline and its association with recombination', Molecular Cell, vol. 82, no. 1, pp. 209-217.e7. https://doi.org/10.1016/j.molcel.2021.11.027

APA

Henriksen, R. A., Jenjaroenpun, P., Sjøstrøm, I. B., Reveles Jensen, K., Prada-Luengo, I., Wongsurawat, T., Nookaew, I., & Regenberg, B. (2022). Circular DNA in the human germline and its association with recombination. Molecular Cell, 82(1), 209-217.e7. https://doi.org/10.1016/j.molcel.2021.11.027

Vancouver

Henriksen RA, Jenjaroenpun P, Sjøstrøm IB, Reveles Jensen K, Prada-Luengo I, Wongsurawat T et al. Circular DNA in the human germline and its association with recombination. Molecular Cell. 2022;82(1):209-217.e7. https://doi.org/10.1016/j.molcel.2021.11.027

Author

Henriksen, Rasmus Amund ; Jenjaroenpun, Piroon ; Sjøstrøm, Ida Borup ; Reveles Jensen, Kristian ; Prada-Luengo, Iñigo ; Wongsurawat, Thidathip ; Nookaew, Intawat ; Regenberg, Birgitte. / Circular DNA in the human germline and its association with recombination. In: Molecular Cell. 2022 ; Vol. 82, No. 1. pp. 209-217.e7.

Bibtex

@article{7a9296f065fe49c3a67a07d961f1aea5,

title = "Circular DNA in the human germline and its association with recombination",

abstract = "Extrachromosomal circular DNA (eccDNA) is common in somatic tissue, but its existence and effects in the human germline are unexplored. We used microscopy, long-read DNA sequencing, and new analytic methods to document thousands of eccDNAs from human sperm. EccDNAs derived from all genomic regions and mostly contained a single DNA fragment, although some consisted of multiple fragments. The generation of eccDNA inversely correlates with the meiotic recombination rate, and chromosomes with high coding-gene density and Alu element abundance form the least eccDNA. Analysis of insertions in human genomes further indicates that eccDNA can persist in the human germline when the circular molecules reinsert themselves into the chromosomes. Our results suggest that eccDNA has transient and permanent effects on the germline. They explain how differences in the physical and genetic map might arise and offer an explanation of how Alu elements coevolved with genes to protect genome integrity against deleterious mutations producing eccDNA.",

keywords = "amplification, complex rearrangements, DM, double minutes, eccDNA, evolution, long-read sequencing, structural variation, translocation",

author = "Henriksen, {Rasmus Amund} and Piroon Jenjaroenpun and Sj{\o}str{\o}m, {Ida Borup} and {Reveles Jensen}, Kristian and I{\~n}igo Prada-Luengo and Thidathip Wongsurawat and Intawat Nookaew and Birgitte Regenberg",

note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",

year = "2022",

doi = "10.1016/j.molcel.2021.11.027",

language = "English",

volume = "82",

pages = "209--217.e7",

journal = "Molecular Cell",

issn = "1097-2765",

publisher = "Cell Press",

number = "1",

}

RIS

TY - JOUR

T1 - Circular DNA in the human germline and its association with recombination

AU - Henriksen, Rasmus Amund

AU - Jenjaroenpun, Piroon

AU - Sjøstrøm, Ida Borup

AU - Reveles Jensen, Kristian

AU - Prada-Luengo, Iñigo

AU - Wongsurawat, Thidathip

AU - Nookaew, Intawat

AU - Regenberg, Birgitte

PY - 2022

Y1 - 2022

N2 - Extrachromosomal circular DNA (eccDNA) is common in somatic tissue, but its existence and effects in the human germline are unexplored. We used microscopy, long-read DNA sequencing, and new analytic methods to document thousands of eccDNAs from human sperm. EccDNAs derived from all genomic regions and mostly contained a single DNA fragment, although some consisted of multiple fragments. The generation of eccDNA inversely correlates with the meiotic recombination rate, and chromosomes with high coding-gene density and Alu element abundance form the least eccDNA. Analysis of insertions in human genomes further indicates that eccDNA can persist in the human germline when the circular molecules reinsert themselves into the chromosomes. Our results suggest that eccDNA has transient and permanent effects on the germline. They explain how differences in the physical and genetic map might arise and offer an explanation of how Alu elements coevolved with genes to protect genome integrity against deleterious mutations producing eccDNA.

AB - Extrachromosomal circular DNA (eccDNA) is common in somatic tissue, but its existence and effects in the human germline are unexplored. We used microscopy, long-read DNA sequencing, and new analytic methods to document thousands of eccDNAs from human sperm. EccDNAs derived from all genomic regions and mostly contained a single DNA fragment, although some consisted of multiple fragments. The generation of eccDNA inversely correlates with the meiotic recombination rate, and chromosomes with high coding-gene density and Alu element abundance form the least eccDNA. Analysis of insertions in human genomes further indicates that eccDNA can persist in the human germline when the circular molecules reinsert themselves into the chromosomes. Our results suggest that eccDNA has transient and permanent effects on the germline. They explain how differences in the physical and genetic map might arise and offer an explanation of how Alu elements coevolved with genes to protect genome integrity against deleterious mutations producing eccDNA.

KW - amplification

KW - complex rearrangements

KW - DM

KW - double minutes

KW - eccDNA

KW - evolution

KW - long-read sequencing

KW - structural variation

KW - translocation

U2 - 10.1016/j.molcel.2021.11.027

DO - 10.1016/j.molcel.2021.11.027

M3 - Journal article

C2 - 34951964

AN - SCOPUS:85121902550

VL - 82

SP - 209-217.e7

JO - Molecular Cell

JF - Molecular Cell

SN - 1097-2765

IS - 1

ER -

ID: 290116671

Globe Institute