Satellite DNA fragility accompanies complex genome rearrangements and ecDNA oncogene amplification in canine osteosarcomas

Canine osteosarcoma (OS) is an aggressive bone cancer with remarkable similarity to human OS. Despite its value as a comparative oncology model, the drivers of genomic instability remain poorly defined, hindering cross-species insights into disease progression. We applied long-read PacBio HiFi whole genome sequencing to matched tumor and blood samples from four purebred dogs to generate high-resolution maps of somatic structural variants (SVs). Tumor genomes showed extensive rearrangement complexity, with satellite repeat regions, particularly SAT1_CF, enriched near somatic SV breakpoints and occurring within genomic contexts marked by focal hypomethylation. We also identified multiple extrachromosomal DNA (ecDNA) elements carrying oncogenes indicating ecDNA-mediated oncogene amplification. Together, these data provide an integrated genomic and epigenomic view of canine OS, implicating satellite repeats as recurrent substrates for rearrangement and ecDNA as a prominent mode of genome remodeling. This work advances our understanding of OS genome dynamics and establishes a comparative framework for investigating repeat-driven instability and oncogene amplification across species.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2025-12-31
DOI
https://doi.org/10.64898/2025.12.31.697157
Primary Topic
Veterinary Oncology Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Satellite DNA fragility accompanies complex genome rearrangements and ecDNA oncogene amplification in canine osteosarcomas

Francis H. O’Neill, Ching C. Lau, Feyza Yilmaz, Jody T Lombardi et al.
bioRxiv (Cold Spring Harbor Laboratory)
Veterinary Oncology Research
article

Satellite DNA fragility accompanies complex genome rearrangements and ecDNA oncogene amplification in canine osteosarcomas

Francis H. O’Neill, Ching C. Lau, Feyza Yilmaz, Jody T Lombardi, Charles Lee, Patrick Kwok Shing Ng, Sabriya A. Syed, Wonyoung Kong
article en

Abstract

Canine osteosarcoma (OS) is an aggressive bone cancer with remarkable similarity to human OS. Despite its value as a comparative oncology model, the drivers of genomic instability remain poorly defined, hindering cross-species insights into disease progression. We applied long-read PacBio HiFi whole genome sequencing to matched tumor and blood samples from four purebred dogs to generate high-resolution maps of somatic structural variants (SVs). Tumor genomes showed extensive rearrangement complexity, with satellite repeat regions, particularly SAT1_CF, enriched near somatic SV breakpoints and occurring within genomic contexts marked by focal hypomethylation. We also identified multiple extrachromosomal DNA (ecDNA) elements carrying oncogenes indicating ecDNA-mediated oncogene amplification. Together, these data provide an integrated genomic and epigenomic view of canine OS, implicating satellite repeats as recurrent substrates for rearrangement and ecDNA as a prominent mode of genome remodeling. This work advances our understanding of OS genome dynamics and establishes a comparative framework for investigating repeat-driven instability and oncogene amplification across species.

bioRxiv (Cold Spring Harbor Laboratory)
University of Connecticut (US), Connecticut Children's Medical Center (US), Jackson Laboratory (US), UConn Health (US)
Colorado State University, Connecticut Children's Medical Center, National Institutes of Health
Life in Land
Openalex Percentile: Top 27%
Veterinary Oncology Research
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Satellite DNA fragility accompanies complex genome rearrangements and ecDNA oncogene amplification in canine osteosarcomas — Francis H. O’Neill, Ching C. Lau, et al. · bioRxiv (Cold Spring Harbor Laboratory) (2025) | TGRS Research Map | TGRS