# Genes and Gene Functions Associated with Morphological, Productive, Reproductive, and Carcass Quality Traits in Pigs: A Functional Bioinformatics Approach

**Authors:** Wilber Hernández-Montiel, Víctor M. Meza-Villalvazo, Dany A. Dzib-Cauich, Juan M. Zaldívar-Cruz, José Abad-Zavaleta, Nubia Noemi Cob-Calan, Nicolás Valenzuela-Jiménez, Roberto Zamora-Bustillos, Amada I. Osorio-Terán

PMC · DOI: 10.3390/cimb48020153 · Current Issues in Molecular Biology · 2026-01-30

## TL;DR

This study uses bioinformatics to identify genes and pathways linked to important traits in pigs, like growth and reproduction, to improve breeding strategies.

## Contribution

A novel functional bioinformatics analysis of genes related to multiple economically important pig traits.

## Key findings

- Genes like VRTN, HOMER1, and BMPR1B were frequently associated with specific pig traits.
- Enriched pathways included SMAD/TGF-β signaling and chondrocyte differentiation.
- PPI networks highlighted key genes in signaling and immune regulation.

## Abstract

Understanding the functional mechanisms of genes influencing economically important traits in the domestic pig is essential for optimizing marker-assisted selection (MAS). This study aimed to characterize the biological functions, molecular mechanisms, and metabolic pathways of genes associated with morphological, productive, reproductive, and carcass quality traits through a functional bioinformatics approach. Genes were compiled from 116 peer-reviewed studies published between 2000 and 2024, and subsequently grouped according to trait. A de novo functional bioinformatics analysis was performed on this dataset. Functional enrichment analysis was conducted using DAVID and the clusterProfiler package in R, applying FDR correction (≤0.05). Protein-protein interaction (PPI) networks were explored using STRING. No individual gene was consistently reported with high frequency. Among the most frequently reported genes were VRTN (17 studies) for teat number, HOMER1 (3 studies) for leg strength, and BMPR1B (3 studies) for litter size. Enriched GO terms included processes such as positive regulation of transcription (GO:0045944), chondrocyte differentiation (GO:0032331), and SMAD signaling (GO:0060391; an FDR = 7.34 × 10−7). The PPI networks revealed key genes involved in signaling and immune regulation. In conclusion, this bioinformatics analysis provides an integrated functional overview of the genes underlying key economic traits in pigs, identifying pleiotropic pathways such as SMAD/TGF-β signaling, which supports the development of more effective MAS strategies in pig breeding programs.

## Linked entities

- **Genes:** HOMER1 (homer scaffold protein 1) [NCBI Gene 9456], BMPR1B (bone morphogenetic protein receptor type 1B) [NCBI Gene 658]
- **Species:** Sus scrofa (taxon 9823)

## Full-text entities

- **Genes:** COL9A1 (collagen type IX alpha 1 chain) [NCBI Gene 100155319], FOS (Fos proto-oncogene, AP-1 transcription factor subunit) [NCBI Gene 100144486] {aka c-fos}, Ihh (Indian hedgehog) [NCBI Gene 16147] {aka HHG-2}, MYOD1 (myogenic differentiation 1) [NCBI Gene 407604] {aka MUF3, MYF-3, MYOD}, VIPR2 (vasoactive intestinal peptide receptor 2) [NCBI Gene 100499553] {aka VPAC2R}, Fbn1 (fibrillin 1) [NCBI Gene 14118] {aka B430209H23, Fib-1, Tsk}, MYF6 (myogenic factor 6) [NCBI Gene 397005] {aka Myf-6}, ARF6 (ADP ribosylation factor 6) [NCBI Gene 780425], FASN (fatty acid synthase) [NCBI Gene 397561], ALOX5 (arachidonate 5-lipoxygenase) [NCBI Gene 240] {aka 5-LO, 5-LOX, 5LPG, LOG5}, APOB (apolipoprotein B) [NCBI Gene 100523371], IGFBP5 (insulin like growth factor binding protein 5) [NCBI Gene 397182], ESR1 (estrogen receptor 1) [NCBI Gene 397435] {aka ER-alpha}, Sox9 (SRY (sex determining region Y)-box 9) [NCBI Gene 20682] {aka 2010306G03Rik, mKIAA4243, mSox9}, OPRM1 (opioid receptor mu 1) [NCBI Gene 396802] {aka MOR}, KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 396810] {aka MGF}, UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1) [NCBI Gene 100155117], Prrx1 (paired related homeobox 1) [NCBI Gene 18933] {aka A230024N07Rik, K-2, MHox1, Pmx, Pmx1, Prx1}, PRKAG3 (protein kinase AMP-activated non-catalytic subunit gamma 3) [NCBI Gene 397149], FBN1 (fibrillin 1) [NCBI Gene 2200] {aka ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS}, GLP1R (glucagon like peptide 1 receptor) [NCBI Gene 100154059], JMY (junction mediating and regulatory protein, p53 cofactor) [NCBI Gene 100510894], SLA-DQB1 (SLA-DQ beta1 domain) [NCBI Gene 100037921] {aka SLA-DQB, SLADQB}, IGF1 (Insulin-like growth factor 1 level) [NCBI Gene 101055342], CALCR (calcitonin receptor) [NCBI Gene 397638] {aka CTR}, TRPM2 (transient receptor potential cation channel subfamily M member 2) [NCBI Gene 100622032], ITGA1 (integrin subunit alpha 1) [NCBI Gene 100512142], FSHR (follicle stimulating hormone receptor) [NCBI Gene 397679], KRT72 (keratin 72) [NCBI Gene 733618] {aka K6-IRS1, KRT71}, SEC16B (SEC16 homolog B, endoplasmic reticulum export factor) [NCBI Gene 102164898], TGFBR3 (transforming growth factor beta receptor 3) [NCBI Gene 397512], WNT2 [NCBI Gene 100125382], ITGB1 (integrin subunit beta 1) [NCBI Gene 397019] {aka CD29}, SLA-DRB1 (MHC class II histocompatibility antigen SLA-DRB1) [NCBI Gene 100153386] {aka DRB1, LA-DRB-c, LA-DRB-d, SLA-DRB, SLADRB}, GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4) [NCBI Gene 100622712], PLCB1 (phospholipase C beta 1) [NCBI Gene 100152679], KIF1B (kinesin family member 1B) [NCBI Gene 100525927], SREBP1 [NCBI Gene 396572], BHLHA15 (basic helix-loop-helix family member a15) [NCBI Gene 100626975], LHCGR (luteinizing hormone/choriogonadotropin receptor) [NCBI Gene 407247] {aka LHR}, ESRRG (estrogen related receptor gamma) [NCBI Gene 100622056] {aka ESRRG1}, LTBP2 (latent transforming growth factor beta binding protein 2) [NCBI Gene 100514300], DMKN (dermokine) [NCBI Gene 100515381], AREL1 (apoptosis resistant E3 ubiquitin protein ligase 1) [NCBI Gene 100622552], CALCR (calcitonin receptor) [NCBI Gene 799] {aka CRT, CT-R, CTR, CTR1}, SMAD1 (SMAD family member 1) [NCBI Gene 397016] {aka MADH1}, AKT1 (AKT serine/threonine kinase 1) [NCBI Gene 100126861] {aka Akt, PKB}, Krt4 (keratin 4) [NCBI Gene 16682] {aka K4, Krt-2.4, Krt2-4}, ELOVL6 (ELOVL fatty acid elongase 6) [NCBI Gene 100312970], CACUL1 (CDK2 associated cullin domain 1) [NCBI Gene 100737227], COL1A2 (collagen type I alpha 2 chain) [NCBI Gene 1278] {aka EDSARTH2, EDSCV, OI4}, MAP1LC3A (microtubule associated protein 1 light chain 3 alpha) [NCBI Gene 100322893], COL1A2 (collagen type I alpha 2 chain) [NCBI Gene 100626716], AKIRIN2 (akirin 2) [NCBI Gene 100519991], CCND2 (cyclin D2) [NCBI Gene 397162], MTTP (microsomal triglyceride transfer protein) [NCBI Gene 397381] {aka MTP}, NUCKS1 (nuclear casein kinase and cyclin dependent kinase substrate 1) [NCBI Gene 100626322], ZFYVE9 (zinc finger FYVE-type containing 9) [NCBI Gene 100517164], Col1a2 (collagen, type I, alpha 2) [NCBI Gene 12843] {aka Col1a-2, Cola-2, Cola2, oim}, BMPR1B (bone morphogenetic protein receptor type 1B) [NCBI Gene 396691] {aka BMPR-IB}
- **Diseases:** reproductive failure (MESH:D051437), injury to (MESH:D014947), fractures (MESH:D050723), autosomal dominant disease (MESH:D030342), weight gain (MESH:D015430), low bone mass (MESH:D001851), Inflammatory bowel disease (MESH:D015212)
- **Chemicals:** polysaccharide (MESH:D011134), estradiol (MESH:D004958), progesterone (MESH:D011374), cholesterol (MESH:D002784), iron (MESH:D007501), stearic acid (MESH:C031183), Fatty acid (MESH:D005227), C18:1 (-), PUFA (MESH:D005231), oleic acid (MESH:D019301), calcium (MESH:D002118), lipid (MESH:D008055)
- **Species:** Mus musculus (house mouse, species) [taxon 10090], Sus scrofa (pig, species) [taxon 9823], Ovis aries (domestic sheep, species) [taxon 9940], Homo sapiens (human, species) [taxon 9606], Bos taurus (bovine, species) [taxon 9913]
- **Mutations:** rs320706814, g.21447C > T, g.9681C > T, g.0.195C > T, g.2228T > C, g.10729C > T, g.10329C > T, g.489C > T, g.16024A > G, g.9206G > A, c.685T > G, rs342908929, g.3350G>C, g.2108C > T, g.1264C > A, g.2281A > G, serine/threonine

## Full text

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## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12939253/full.md

## References

168 references — full list in the complete paper: https://tomesphere.com/paper/PMC12939253/full.md

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Source: https://tomesphere.com/paper/PMC12939253