# Whole-genome sequencing reveals genomic diversity and selection signatures for adaptation in South African Afrikaner and Bonsmara cattle

**Authors:** D. Alberts, E. van Marle-Köster, F. Joubert, D. P. Berry

PMC · DOI: 10.3389/fgene.2026.1717538 · Frontiers in Genetics · 2026-02-17

## TL;DR

This study uses whole-genome sequencing to explore genetic diversity and adaptation in South African Afrikaner and Bonsmara cattle breeds.

## Contribution

The study identifies selection signatures and genetic traits related to adaptation in Afrikaner and Bonsmara cattle using whole-genome sequencing.

## Key findings

- Afrikaner and Bonsmara cattle show comparable nucleotide diversity but differ in linkage disequilibrium and homozygosity.
- Selection signatures related to nervous system development and multicellular processes were identified.
- Candidate genes like B3GLCT, HSPA2, HSPH1, and STING1 are linked to adaptive traits in both breeds.

## Abstract

The indigenous Afrikaner and composite Bonsmara cattle breeds are hardy and adapted to the diverse South African climate and biomes. Both breeds have been successfully used in the South African stud and commercial industries. This study explored the genomic diversity and population structure, as well as identified selection signatures within and between the Afrikaner and Bonsmara breeds with a focus on signatures related to adaptation traits. Short-read whole genome sequencing data of 42 Afrikaner and 43 Bonsmara cattle were analysed. Diversity analysis revealed comparable nucleotide diversity levels in the Afrikaner and Bonsmara populations, with the Bonsmara having weaker average linkage disequilibrium between adjacent single nucleotide polymorphisms as well as having fewer runs of homozygosity. Furthermore, genetic structure analysis revealed distinct clustering of both populations, with the exception of a subset of Afrikaner individuals having been infused with Bonsmara genetics. Between and within breed selection signatures were detected using the fixation index and integrated haplotype score approaches, respectively. Several gene ontology terms were described based on the detected selection signatures, with the most significant being nervous system development and multicellular organismal processes. Finally, functional annotation of the candidate genes from the within-breed selection signature analysis revealed several genes (B3GLCT, HSPA2, HSPH1, STING1) relating to adaptive traits in both populations. The location of the within and between breed selection signatures in this study population is consistent with the performance and adaptive characteristics of both breeds and may enhance future breeding strategies with the inclusion of these breeds in crossbreeding programs. Furthermore, a comprehensive genomic characterization of these breeds through whole genome sequencing data is important as these adapted breeds are valuable reservoirs of genetic variation.

## Linked entities

- **Genes:** B3GLCT (beta 3-glucosyltransferase) [NCBI Gene 145173], HSPA2 (heat shock protein family A (Hsp70) member 2) [NCBI Gene 3306], HSPH1 (heat shock protein family H (Hsp110) member 1) [NCBI Gene 10808], STING1 (stimulator of interferon response cGAMP interactor 1) [NCBI Gene 340061]

## Full-text entities

- **Genes:** KBTBD2 (kelch repeat and BTB domain containing 2) [NCBI Gene 514920], TRGC3 (T cell receptor gamma C3) [NCBI Gene 781629], DGCR8 (DGCR8 microprocessor complex subunit) [NCBI Gene 540254], INTS6 (integrator complex subunit 6) [NCBI Gene 509695], ADCY8 (adenylate cyclase 8) [NCBI Gene 535017], OLA1 (Obg like ATPase 1) [NCBI Gene 509966], ITGB3BP (integrin subunit beta 3 binding protein) [NCBI Gene 614469], MUC1 (mucin 1, cell surface associated) [NCBI Gene 281333] {aka mucin}, OAS2 (2'-5'-oligoadenylate synthetase 2) [NCBI Gene 529660], GRXCR1 (glutaredoxin and cysteine rich domain containing 1) [NCBI Gene 527289], HSPA2 (heat shock protein family A (Hsp70) member 2) [NCBI Gene 281827] {aka HSP70.3, HSPA3}, FRS2 (fibroblast growth factor receptor substrate 2) [NCBI Gene 538624], HSD17B7 (hydroxysteroid 17-beta dehydrogenase 7) [NCBI Gene 505212], CAPN1 (calpain 1) [NCBI Gene 281661] {aka CANP 1, CANP1}, HSPB3 (heat shock protein family B (small) member 3) [NCBI Gene 616007], LSM5 (LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated) [NCBI Gene 615136], MSRB3 (methionine sulfoxide reductase B3) [NCBI Gene 617849], CMPK1 (cytidine/uridine monophosphate kinase 1) [NCBI Gene 509965] {aka CK, CMPK}, PTPN6 (protein tyrosine phosphatase non-receptor type 6) [NCBI Gene 512312], PTH (parathyroid hormone) [NCBI Gene 280903], CYP26C1 (cytochrome P450 family 26 subfamily C member 1) [NCBI Gene 539048], TRPC7 (transient receptor potential cation channel subfamily C member 7) [NCBI Gene 540902], FKBP1A (FKBP prolyl isomerase 1A) [NCBI Gene 614795] {aka FKBP1B}, CPSF6 (cleavage and polyadenylation specific factor 6) [NCBI Gene 768231], HSPH1 (heat shock protein family H (Hsp110) member 1) [NCBI Gene 507165], MAX (MYC associated factor X) [NCBI Gene 540616], DNAJC9 (DnaJ heat shock protein family (Hsp40) member C9) [NCBI Gene 510898], IL21 (interleukin 21) [NCBI Gene 378475], AQP1 (aquaporin 1) [NCBI Gene 282653] {aka AQP-1, CHIP29}, MATR3 (matrin 3) [NCBI Gene 505129], LRRIQ1 (leucine rich repeats and IQ motif containing 1) [NCBI Gene 781474], LOC517016 (interleukin 6 (interferon, beta 2)) [NCBI Gene 517016] {aka IF1DA6}, DNAJC14 (DnaJ heat shock protein family (Hsp40) member C14) [NCBI Gene 281691] {aka DNAJ1, jiv}, HSPA14 (heat shock protein family A (Hsp70) member 14) [NCBI Gene 534751], RGS3 (regulator of G protein signaling 3) [NCBI Gene 527349], CPA6 (carboxypeptidase A6) [NCBI Gene 100337371], CA8 (carbonic anhydrase 8) [NCBI Gene 515918], NPFFR2 (neuropeptide FF receptor 2) [NCBI Gene 530560], STING1 (stimulator of interferon response cGAMP interactor 1) [NCBI Gene 533661] {aka STING, TMEM173}, GCNT4 (glucosaminyl (N-acetyl) transferase 4) [NCBI Gene 782825], FBXW7 (F-box and WD repeat domain containing 7) [NCBI Gene 540932], TXNRD2 (thioredoxin reductase 2) [NCBI Gene 282389] {aka mt-TR}, HSPB6 (heat shock protein family B (small) member 6) [NCBI Gene 534551] {aka HSP20}, CYP24A1 (cytochrome P450 family 24 subfamily A member 1) [NCBI Gene 540080], SIDT2 (SID1 transmembrane family member 2) [NCBI Gene 513462], ASIC3 (acid sensing ion channel subunit 3) [NCBI Gene 789132] {aka ACCN3}, HSPBAP1 (HSPB1 associated protein 1) [NCBI Gene 513211], CBLC (Cbl proto-oncogene C) [NCBI Gene 615866], N4BP2L1 (NEDD4 binding protein 2 like 1) [NCBI Gene 616069], VAV2 (vav guanine nucleotide exchange factor 2) [NCBI Gene 515718], LYZ2 (lysozyme C-2) [NCBI Gene 280849] {aka LYZF5}, BPIFB1 (BPI fold containing family B member 1) [NCBI Gene 282643] {aka C13H20orf114, C20orf114, LPLUNC1}, GHR (growth hormone receptor) [NCBI Gene 280805], GOT1 (glutamic-oxaloacetic transaminase 1) [NCBI Gene 281206] {aka cAspAT, cCAT}, MSTN (myostatin) [NCBI Gene 281187] {aka GDF8}
- **Diseases:** tick-borne diseases (MESH:D017282), Ostertagia ostertagi infections (MESH:D007239), Mandibulofacial dysostosis (MESH:D008342), tumor (MESH:D009369), diabetes (MESH:D003920), muscular hypertrophy (MESH:D006984), Fasciola hepatica (MESH:D005211), inflammatory (MESH:D007249), arthritis (MESH:D001168), condition (MESH:D020763), eyelid pigmentation (MESH:D005141), skin tags (MESH:C566904), Pulmonary hypertension (MESH:D006976), hyperthermia (MESH:D005334), hoof and leg disorders (MESH:D010264), genital disease (MESH:D000091662), carcinogenesis (MESH:D063646), facial deformities (MESH:D005153), rhinotracheitis (MESH:D007241), right heart failure (MESH:D006333)
- **Chemicals:** estradiol (MESH:D004958), iHS (-)
- **Species:** Canis lupus familiaris (dog, subspecies) [taxon 9615], Homo sapiens (human, species) [taxon 9606], Rattus norvegicus (brown rat, species) [taxon 10116], Mus musculus (house mouse, species) [taxon 10090], Fasciola hepatica (liver fluke, species) [taxon 6192], bovine alphaherpesvirus 1 (no rank) [taxon 10320], Gallus gallus (bantam, species) [taxon 9031], Sus scrofa (pig, species) [taxon 9823], Bos indicus (Indicine cattle, species) [taxon 9915], Ovis aries (domestic sheep, species) [taxon 9940], Bos taurus (bovine, species) [taxon 9913]
- **Mutations:** Q204X
- **Cell lines:** S2 — Drosophila melanogaster (Fruit fly), Spontaneously immortalized cell line (CVCL_Z232)

## Full text

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## Figures

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## References

126 references — full list in the complete paper: https://tomesphere.com/paper/PMC12952722/full.md

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Source: https://tomesphere.com/paper/PMC12952722