Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes

Copy number variations regions (CNVRs) can be classified either as segregating, when found in both parents, and offspring, or non-segregating. A total of 65 segregating and 31 non-segregating CNVRs identified in at least 10 individuals within a dense pedigree of the Gochu Asturcelta pig breed was su...

Full description

Bibliographic Details
Main Authors: Katherine D. Arias, Juan Pablo Gutiérrez, Iván Fernández, Isabel Álvarez, Félix Goyache
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Animals
Subjects:
Online Access:https://www.mdpi.com/2076-2615/13/14/2351
_version_ 1797590588406628352
author Katherine D. Arias
Juan Pablo Gutiérrez
Iván Fernández
Isabel Álvarez
Félix Goyache
author_facet Katherine D. Arias
Juan Pablo Gutiérrez
Iván Fernández
Isabel Álvarez
Félix Goyache
author_sort Katherine D. Arias
collection DOAJ
description Copy number variations regions (CNVRs) can be classified either as segregating, when found in both parents, and offspring, or non-segregating. A total of 65 segregating and 31 non-segregating CNVRs identified in at least 10 individuals within a dense pedigree of the Gochu Asturcelta pig breed was subjected to enrichment and functional annotation analyses to ascertain their functional independence and importance. Enrichment analyses allowed us to annotate 1018 and 351 candidate genes within the bounds of the segregating and non-segregating CNVRs, respectively. The information retrieved suggested that the candidate genes spanned by segregating and non-segregating CNVRs were functionally independent. Functional annotation analyses allowed us to identify nine different significantly enriched functional annotation clusters (ACs) in segregating CNVR candidate genes mainly involved in immunity and regulation of the cell cycle. Up to five significantly enriched ACs, mainly involved in reproduction and meat quality, were identified in non-segregating CNVRs. The current analysis fits with previous reports suggesting that segregating CNVRs would explain performance at the population level, whereas non-segregating CNVRs could explain between-individuals differences in performance.
first_indexed 2024-03-11T01:22:41Z
format Article
id doaj.art-91790e8e61e6480cacf2a6f6d2e6c1d3
institution Directory Open Access Journal
issn 2076-2615
language English
last_indexed 2024-03-11T01:22:41Z
publishDate 2023-07-01
publisher MDPI AG
record_format Article
series Animals
spelling doaj.art-91790e8e61e6480cacf2a6f6d2e6c1d32023-11-18T18:01:11ZengMDPI AGAnimals2076-26152023-07-011314235110.3390/ani13142351Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of GenesKatherine D. Arias0Juan Pablo Gutiérrez1Iván Fernández2Isabel Álvarez3Félix Goyache4Área de Genética y Reproducción Animal, SERIDA-Deva, Camino de Rioseco 1225, 33394 Gijón, SpainDepartamento de Producción Animal, Universidad Complutense de Madrid, 28040 Madrid, SpainÁrea de Genética y Reproducción Animal, SERIDA-Deva, Camino de Rioseco 1225, 33394 Gijón, SpainÁrea de Genética y Reproducción Animal, SERIDA-Deva, Camino de Rioseco 1225, 33394 Gijón, SpainÁrea de Genética y Reproducción Animal, SERIDA-Deva, Camino de Rioseco 1225, 33394 Gijón, SpainCopy number variations regions (CNVRs) can be classified either as segregating, when found in both parents, and offspring, or non-segregating. A total of 65 segregating and 31 non-segregating CNVRs identified in at least 10 individuals within a dense pedigree of the Gochu Asturcelta pig breed was subjected to enrichment and functional annotation analyses to ascertain their functional independence and importance. Enrichment analyses allowed us to annotate 1018 and 351 candidate genes within the bounds of the segregating and non-segregating CNVRs, respectively. The information retrieved suggested that the candidate genes spanned by segregating and non-segregating CNVRs were functionally independent. Functional annotation analyses allowed us to identify nine different significantly enriched functional annotation clusters (ACs) in segregating CNVR candidate genes mainly involved in immunity and regulation of the cell cycle. Up to five significantly enriched ACs, mainly involved in reproduction and meat quality, were identified in non-segregating CNVRs. The current analysis fits with previous reports suggesting that segregating CNVRs would explain performance at the population level, whereas non-segregating CNVRs could explain between-individuals differences in performance.https://www.mdpi.com/2076-2615/13/14/2351CNV segregationcandidate genefunctional analysesbetween-individuals differences
spellingShingle Katherine D. Arias
Juan Pablo Gutiérrez
Iván Fernández
Isabel Álvarez
Félix Goyache
Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
Animals
CNV segregation
candidate gene
functional analyses
between-individuals differences
title Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
title_full Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
title_fullStr Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
title_full_unstemmed Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
title_short Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes
title_sort copy number variation regions differing in segregation patterns span different sets of genes
topic CNV segregation
candidate gene
functional analyses
between-individuals differences
url https://www.mdpi.com/2076-2615/13/14/2351
work_keys_str_mv AT katherinedarias copynumbervariationregionsdifferinginsegregationpatternsspandifferentsetsofgenes
AT juanpablogutierrez copynumbervariationregionsdifferinginsegregationpatternsspandifferentsetsofgenes
AT ivanfernandez copynumbervariationregionsdifferinginsegregationpatternsspandifferentsetsofgenes
AT isabelalvarez copynumbervariationregionsdifferinginsegregationpatternsspandifferentsetsofgenes
AT felixgoyache copynumbervariationregionsdifferinginsegregationpatternsspandifferentsetsofgenes