# De Novo Assembly of Eight Commercial Crossbred Pig Genomes Provides Insights into the Potential Functional Impact of Structural Variation Hotspots

**Authors:** Jiaolong Wen, Haiqi Qiu, Shaoxiong Deng, Shiyuan Wang, Yiyi Liu, Meng Lin, Jie Yang, Zhenfang Wu, Langqing Liu, Yibin Qiu

PMC · DOI: 10.3390/biom16020214 · Biomolecules · 2026-01-31

## TL;DR

Researchers assembled eight crossbred pig genomes to study structural variations that may affect economically important traits like growth.

## Contribution

The first haplotype-resolved genomic resource for commercial crossbred pigs is presented, revealing novel structural variation hotspots.

## Key findings

- High-quality chromosome-level assemblies of eight DLY pigs were created with high continuity and completeness.
- A non-redundant structural variant (SV) catalog was constructed, with nearly half of the variants being novel.
- SV hotspots were linked to economically important traits through QTL associations and candidate gene proximity.

## Abstract

The Duroc × (Landrace × Yorkshire) (DLY) pig is a cornerstone of three-way crossbreeding system. Nevertheless, advances in commercial crossbred performance have been constrained by the dearth of high-resolution genomic resources for this key population. Here, we report the sequencing and assembly of 16 haplotype-resolved, chromosome-level genome assemblies derived from eight DLY pigs. These assemblies exhibited high continuity (contig N50: 18.17–29.54 Mb) and completeness (BUSCO: 99.3–99.4%), with sequences successfully localized to the 19 chromosomes. Genome annotation revealed an average of 21,922 protein-coding genes and 44.66% repetitive sequences per assembly. Comparative genomic analysis against the current reference genome Sscrofa11.1 enabled the construction of a non-redundant SV catalog comprising 130,416 variants, nearly half of which (48.99%) were novel relative to existing pig pan-genome SV panel. These SVs clustered non-randomly into 231 “SV hotspots” that were significantly enriched in protein-coding genes and putative regulatory elements. Functional analyses further linked these SV hotspots to quantitative trait loci (QTLs) associated with economically important traits. A focused analysis of a 3.43 Mb hotspot on chromosome 1, overlapping a known QTL for average daily gain, revealed eight high-frequency SVs in open chromatin regions near candidate genes (NCS1, HMCN2, FUBP3, ABL1, and FIBCD1), suggesting a cis-regulatory mechanism that may influence gene expression. Collectively, this work provides the first haplotype-resolved genomic resource for commercial crossbred pigs, and establishes a foundational framework for deciphering the genomic architecture of hybrid vigor and advancing precision breeding in swine.

## Linked entities

- **Genes:** NCS1 (neuronal calcium sensor 1) [NCBI Gene 23413], HMCN2 (hemicentin 2) [NCBI Gene 256158], FUBP3 (far upstream element binding protein 3) [NCBI Gene 8939], ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) [NCBI Gene 25], FIBCD1 (fibrinogen C domain containing 1) [NCBI Gene 84929]
- **Species:** Sus scrofa (taxon 9823)

## Full-text entities

- **Genes:** FUBP3 (far upstream element binding protein 3) [NCBI Gene 100524188], ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) [NCBI Gene 100524544], HMCN2 (hemicentin 2) [NCBI Gene 100623602], FIBCD1 (fibrinogen C domain containing 1) [NCBI Gene 100523302], NCS1 (neuronal calcium sensor 1) [NCBI Gene 100523836]
- **Diseases:** injury to (MESH:D014947), NCMD (MESH:C537835)
- **Chemicals:** nitrogen (MESH:D009584), fatty acid (MESH:D005227), ATP (MESH:D000255)
- **Species:** Homo sapiens (human, species) [taxon 9606], Suidae (boars, family) [taxon 9821], Dactylogyrus sp. LY (species) [taxon 2979239], Sus scrofa (pig, species) [taxon 9823]
- **Mutations:** Chr1:268,359,526-271,794,677

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12938368/full.md

## References

55 references — full list in the complete paper: https://tomesphere.com/paper/PMC12938368/full.md

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Source: https://tomesphere.com/paper/PMC12938368