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Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle

BACKGROUND: Runs of homozygosity (ROH) are continuous homozygous segments of the DNA sequence. They have been applied to quantify individual autozygosity and used as a potential inbreeding measure in livestock species. The aim of the present study was (i) to investigate genome-wide autozygosity to i...

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Autores principales: Peripolli, Elisa, Stafuzza, Nedenia Bonvino, Munari, Danísio Prado, Lima, André Luís Ferreira, Irgang, Renato, Machado, Marco Antonio, Panetto, João Cláudio do Carmo, Ventura, Ricardo Vieira, Baldi, Fernando, da Silva, Marcos Vinícius Gualberto Barbosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759835/
https://www.ncbi.nlm.nih.gov/pubmed/29316879
http://dx.doi.org/10.1186/s12864-017-4365-3
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author Peripolli, Elisa
Stafuzza, Nedenia Bonvino
Munari, Danísio Prado
Lima, André Luís Ferreira
Irgang, Renato
Machado, Marco Antonio
Panetto, João Cláudio do Carmo
Ventura, Ricardo Vieira
Baldi, Fernando
da Silva, Marcos Vinícius Gualberto Barbosa
author_facet Peripolli, Elisa
Stafuzza, Nedenia Bonvino
Munari, Danísio Prado
Lima, André Luís Ferreira
Irgang, Renato
Machado, Marco Antonio
Panetto, João Cláudio do Carmo
Ventura, Ricardo Vieira
Baldi, Fernando
da Silva, Marcos Vinícius Gualberto Barbosa
author_sort Peripolli, Elisa
collection PubMed
description BACKGROUND: Runs of homozygosity (ROH) are continuous homozygous segments of the DNA sequence. They have been applied to quantify individual autozygosity and used as a potential inbreeding measure in livestock species. The aim of the present study was (i) to investigate genome-wide autozygosity to identify and characterize ROH patterns in Gyr dairy cattle genome; (ii) identify ROH islands for gene content and enrichment in segments shared by more than 50% of the samples, and (iii) compare estimates of molecular inbreeding calculated from ROH (F(ROH)), genomic relationship matrix approach (F(GRM)) and based on the observed versus expected number of homozygous genotypes (F(HOM)), and from pedigree-based coefficient (F(PED)). RESULTS: ROH were identified in all animals, with an average number of 55.12 ± 10.37 segments and a mean length of 3.17 Mb. Short segments (ROH(1–2 Mb)) were abundant through the genomes, which accounted for 60% of all segments identified, even though the proportion of the genome covered by them was relatively small. The findings obtained in this study suggest that on average 7.01% (175.28 Mb) of the genome of this population is autozygous. Overlapping ROH were evident across the genomes and 14 regions were identified with ROH frequencies exceeding 50% of the whole population. Genes associated with lactation (TRAPPC9), milk yield and composition (IRS2 and ANG), and heat adaptation (HSF1, HSPB1, and HSPE1), were identified. Inbreeding coefficients were estimated through the application of F(ROH), F(GRM), F(HOM), and F(PED) approaches. F(PED) estimates ranged from 0.00 to 0.327 and F(ROH) from 0.001 to 0.201. Low to moderate correlations were observed between F(PED)-F(ROH) and F(GRM)-F(ROH), with values ranging from −0.11 to 0.51. Low to high correlations were observed between F(ROH)-F(HOM) and moderate between F(PED)-F(HOM) and F(GRM)-F(HOM). Correlations between F(ROH) from different lengths and F(PED) gradually increased with ROH length. CONCLUSIONS: Genes inside ROH islands suggest a strong selection for dairy traits and enrichment for Gyr cattle environmental adaptation. Furthermore, low F(PED-)F(ROH) correlations for small segments indicate that F(PED) estimates are not the most suitable method to capture ancient inbreeding. The existence of a moderate correlation between larger ROH indicates that F(ROH) can be used as an alternative to inbreeding estimates in the absence of pedigree records. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12864-017-4365-3) contains supplementary material, which is available to authorized users.
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spelling pubmed-57598352018-01-16 Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle Peripolli, Elisa Stafuzza, Nedenia Bonvino Munari, Danísio Prado Lima, André Luís Ferreira Irgang, Renato Machado, Marco Antonio Panetto, João Cláudio do Carmo Ventura, Ricardo Vieira Baldi, Fernando da Silva, Marcos Vinícius Gualberto Barbosa BMC Genomics Research Article BACKGROUND: Runs of homozygosity (ROH) are continuous homozygous segments of the DNA sequence. They have been applied to quantify individual autozygosity and used as a potential inbreeding measure in livestock species. The aim of the present study was (i) to investigate genome-wide autozygosity to identify and characterize ROH patterns in Gyr dairy cattle genome; (ii) identify ROH islands for gene content and enrichment in segments shared by more than 50% of the samples, and (iii) compare estimates of molecular inbreeding calculated from ROH (F(ROH)), genomic relationship matrix approach (F(GRM)) and based on the observed versus expected number of homozygous genotypes (F(HOM)), and from pedigree-based coefficient (F(PED)). RESULTS: ROH were identified in all animals, with an average number of 55.12 ± 10.37 segments and a mean length of 3.17 Mb. Short segments (ROH(1–2 Mb)) were abundant through the genomes, which accounted for 60% of all segments identified, even though the proportion of the genome covered by them was relatively small. The findings obtained in this study suggest that on average 7.01% (175.28 Mb) of the genome of this population is autozygous. Overlapping ROH were evident across the genomes and 14 regions were identified with ROH frequencies exceeding 50% of the whole population. Genes associated with lactation (TRAPPC9), milk yield and composition (IRS2 and ANG), and heat adaptation (HSF1, HSPB1, and HSPE1), were identified. Inbreeding coefficients were estimated through the application of F(ROH), F(GRM), F(HOM), and F(PED) approaches. F(PED) estimates ranged from 0.00 to 0.327 and F(ROH) from 0.001 to 0.201. Low to moderate correlations were observed between F(PED)-F(ROH) and F(GRM)-F(ROH), with values ranging from −0.11 to 0.51. Low to high correlations were observed between F(ROH)-F(HOM) and moderate between F(PED)-F(HOM) and F(GRM)-F(HOM). Correlations between F(ROH) from different lengths and F(PED) gradually increased with ROH length. CONCLUSIONS: Genes inside ROH islands suggest a strong selection for dairy traits and enrichment for Gyr cattle environmental adaptation. Furthermore, low F(PED-)F(ROH) correlations for small segments indicate that F(PED) estimates are not the most suitable method to capture ancient inbreeding. The existence of a moderate correlation between larger ROH indicates that F(ROH) can be used as an alternative to inbreeding estimates in the absence of pedigree records. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12864-017-4365-3) contains supplementary material, which is available to authorized users. BioMed Central 2018-01-09 /pmc/articles/PMC5759835/ /pubmed/29316879 http://dx.doi.org/10.1186/s12864-017-4365-3 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Peripolli, Elisa
Stafuzza, Nedenia Bonvino
Munari, Danísio Prado
Lima, André Luís Ferreira
Irgang, Renato
Machado, Marco Antonio
Panetto, João Cláudio do Carmo
Ventura, Ricardo Vieira
Baldi, Fernando
da Silva, Marcos Vinícius Gualberto Barbosa
Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle
title Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle
title_full Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle
title_fullStr Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle
title_full_unstemmed Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle
title_short Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle
title_sort assessment of runs of homozygosity islands and estimates of genomic inbreeding in gyr (bos indicus) dairy cattle
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759835/
https://www.ncbi.nlm.nih.gov/pubmed/29316879
http://dx.doi.org/10.1186/s12864-017-4365-3
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