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Updated: Jul 21, 2025
09:45
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
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Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
Katherine D Arias1, Juan Pablo Gutiérrez2, Iván Fernández1
1Área de Genética y Reproducción Animal, SERIDA-Deva, Camino de Rioseco 1225, 33394 Gijón, Spain.
Animals : an Open Access Journal From MDPI
|July 29, 2023
Summary
Copy number variations regions (CNVRs) in pigs show functional independence. Segregating CNVRs influence population-level traits like immunity, while non-segregating CNVRs impact individual differences in reproduction and meat quality.
Area of Science:
- Genetics
- Animal Breeding
- Genomics
Background:
- Copy number variation regions (CNVRs) are crucial genomic elements.
- CNVRs can be classified as segregating (present in parents and offspring) or non-segregating.
- Understanding CNVRs' functional roles is key for livestock improvement.
Purpose of the Study:
- To investigate the functional independence and importance of segregating and non-segregating CNVRs in the Gochu Asturcelta pig breed.
- To identify candidate genes and enriched functional pathways associated with different CNVR types.
- To elucidate the distinct contributions of CNVRs to population-level and individual-level performance.
Main Methods:
- Identification of 65 segregating and 31 non-segregating CNVRs in a dense pig pedigree.
- Enrichment and functional annotation analyses of candidate genes within CNVRs.
- Comparative analysis of functional annotation clusters (ACs) between segregating and non-segregating CNVRs.
Main Results:
- Annotated 1018 candidate genes in segregating CNVRs and 351 in non-segregating CNVRs.
- Segregating CNVRs were enriched for genes involved in immunity and cell cycle regulation.
- Non-segregating CNVRs were enriched for genes related to reproduction and meat quality.
Conclusions:
- Segregating and non-segregating CNVRs harbor functionally independent gene sets.
- Segregating CNVRs are associated with population-level performance traits.
- Non-segregating CNVRs likely contribute to individual variation in traits such as reproduction and meat quality.
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