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Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs

BACKGROUND: The increasing availability of DNA markers provides new metrics of inbreeding based on single nucleotide polymorphisms (SNPs), i.e. molecular inbreeding or the proportion of runs of homozygosity (ROH), as alternatives to traditional pedigree-based inbreeding coefficients. However, none o...

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Autores principales: Gomez-Raya, Luis, Rodríguez, Carmen, Barragán, Carmen, Silió, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608316/
https://www.ncbi.nlm.nih.gov/pubmed/26475049
http://dx.doi.org/10.1186/s12711-015-0153-1
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author Gomez-Raya, Luis
Rodríguez, Carmen
Barragán, Carmen
Silió, Luis
author_facet Gomez-Raya, Luis
Rodríguez, Carmen
Barragán, Carmen
Silió, Luis
author_sort Gomez-Raya, Luis
collection PubMed
description BACKGROUND: The increasing availability of DNA markers provides new metrics of inbreeding based on single nucleotide polymorphisms (SNPs), i.e. molecular inbreeding or the proportion of runs of homozygosity (ROH), as alternatives to traditional pedigree-based inbreeding coefficients. However, none of these metrics incorporate the length of ROH as an indicator of recent inbreeding. Novel inbreeding coefficients that incorporate length of ROH as a random variable with an associated density are investigated. METHODS: New inbreeding metrics based on the distribution of the length of ROH are proposed: (1) the Kolmolgorov–Smirnov test, (2) a function of the quantiles of the cumulative distribution function of an individual versus the population, and (3) fitting of an exponential distribution to ROH lengths (mean, variance, and the probability of drawing at random a ROH larger than a given threshold). The new inbreeding and pedigree-based metrics were compared using 217 sows of an Iberian line that belong to three groups: C1 (conservation), C2 (conservation derived from C1), and S (selected and derived from C1), with complete pedigrees and genotyped for 35,023 SNPs. RESULTS: Correlations between pedigree-based and the new genomic inbreeding coefficients ranged from 0.22 to 0.72 but most ranged from 0.60 to 0.70. The correlation between quantile chromosomal inbreeding coefficients (using molecular information of just one chromosome at the time) and chromosomal length was 0.84 (SE = 0.14), supporting the hypothesis that these coefficients incorporate information on ROH length as an indication of recent inbreeding. Kolmogorov–Smirnov and exponential chromosomal inbreeding coefficients were also correlated with chromosomal length (0.57). Chromosome 1 had the largest quantile ROH inbreeding coefficient (largest ROH sizes), whereas chromosome 10 had the lowest (shortest ROH sizes). Selection for lean growth increased ROH-based inbreeding coefficients for group S when compared to unselected groups C1 and C2. At the chromosomal level, this comparison showed that the level of autozygosity and the length of ROH for most of the autosomes increased in the selection line. CONCLUSIONS: Quantile and exponential probability inbreeding coefficients using ROH length as a random variable provide additional information about recent inbreeding compared to existing inbreeding coefficients such as molecular, pedigree-based or total ROH content inbreeding coefficients. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12711-015-0153-1) contains supplementary material, which is available to authorized users.
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spelling pubmed-46083162015-10-17 Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs Gomez-Raya, Luis Rodríguez, Carmen Barragán, Carmen Silió, Luis Genet Sel Evol Research Article BACKGROUND: The increasing availability of DNA markers provides new metrics of inbreeding based on single nucleotide polymorphisms (SNPs), i.e. molecular inbreeding or the proportion of runs of homozygosity (ROH), as alternatives to traditional pedigree-based inbreeding coefficients. However, none of these metrics incorporate the length of ROH as an indicator of recent inbreeding. Novel inbreeding coefficients that incorporate length of ROH as a random variable with an associated density are investigated. METHODS: New inbreeding metrics based on the distribution of the length of ROH are proposed: (1) the Kolmolgorov–Smirnov test, (2) a function of the quantiles of the cumulative distribution function of an individual versus the population, and (3) fitting of an exponential distribution to ROH lengths (mean, variance, and the probability of drawing at random a ROH larger than a given threshold). The new inbreeding and pedigree-based metrics were compared using 217 sows of an Iberian line that belong to three groups: C1 (conservation), C2 (conservation derived from C1), and S (selected and derived from C1), with complete pedigrees and genotyped for 35,023 SNPs. RESULTS: Correlations between pedigree-based and the new genomic inbreeding coefficients ranged from 0.22 to 0.72 but most ranged from 0.60 to 0.70. The correlation between quantile chromosomal inbreeding coefficients (using molecular information of just one chromosome at the time) and chromosomal length was 0.84 (SE = 0.14), supporting the hypothesis that these coefficients incorporate information on ROH length as an indication of recent inbreeding. Kolmogorov–Smirnov and exponential chromosomal inbreeding coefficients were also correlated with chromosomal length (0.57). Chromosome 1 had the largest quantile ROH inbreeding coefficient (largest ROH sizes), whereas chromosome 10 had the lowest (shortest ROH sizes). Selection for lean growth increased ROH-based inbreeding coefficients for group S when compared to unselected groups C1 and C2. At the chromosomal level, this comparison showed that the level of autozygosity and the length of ROH for most of the autosomes increased in the selection line. CONCLUSIONS: Quantile and exponential probability inbreeding coefficients using ROH length as a random variable provide additional information about recent inbreeding compared to existing inbreeding coefficients such as molecular, pedigree-based or total ROH content inbreeding coefficients. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12711-015-0153-1) contains supplementary material, which is available to authorized users. BioMed Central 2015-10-16 /pmc/articles/PMC4608316/ /pubmed/26475049 http://dx.doi.org/10.1186/s12711-015-0153-1 Text en © Gomez-Raya et al. 2015 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
Gomez-Raya, Luis
Rodríguez, Carmen
Barragán, Carmen
Silió, Luis
Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs
title Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs
title_full Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs
title_fullStr Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs
title_full_unstemmed Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs
title_short Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs
title_sort genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of iberian pigs
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608316/
https://www.ncbi.nlm.nih.gov/pubmed/26475049
http://dx.doi.org/10.1186/s12711-015-0153-1
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