Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.

Insertion and deletion (INDEL) is one of the main events contributing to genetic and phenotypic diversity, which receives less attention than SNP and large structural variation. To gain a better knowledge of INDEL variation in chicken genome, we applied next generation sequencing on 12 diverse chick...

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Main Authors: Yiyuan Yan, Guoqiang Yi, Congjiao Sun, Lujiang Qu, Ning Yang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4136736?pdf=render
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author Yiyuan Yan
Guoqiang Yi
Congjiao Sun
Lujiang Qu
Ning Yang
author_facet Yiyuan Yan
Guoqiang Yi
Congjiao Sun
Lujiang Qu
Ning Yang
author_sort Yiyuan Yan
collection DOAJ
description Insertion and deletion (INDEL) is one of the main events contributing to genetic and phenotypic diversity, which receives less attention than SNP and large structural variation. To gain a better knowledge of INDEL variation in chicken genome, we applied next generation sequencing on 12 diverse chicken breeds at an average effective depth of 8.6. Over 1.3 million non-redundant short INDELs (1-49 bp) were obtained, the vast majority (92.48%) of which were novel. Follow-up validation assays confirmed that most (88.00%) of the randomly selected INDELs represent true variations. The majority (95.76%) of INDELs were less than 10 bp. Both the detected number and affected bases were larger for deletions than insertions. In total, INDELs covered 3.8 Mbp, corresponding to 0.36% of the chicken genome. The average genomic INDEL density was estimated as 0.49 per kb. INDELs were ubiquitous and distributed in a non-uniform fashion across chromosomes, with lower INDEL density in micro-chromosomes than in others, and some functional regions like exons and UTRs were prone to less INDELs than introns and intergenic regions. Nearly 620,253 INDELs fell in genic regions, 1,765 (0.28%) of which located in exons, spanning 1,358 (7.56%) unique Ensembl genes. Many of them are associated with economically important traits and some are the homologues of human disease-related genes. We demonstrate that sequencing multiple individuals at a medium depth offers a promising way for reliable identification of INDELs. The coding INDELs are valuable candidates for further elucidation of the association between genotypes and phenotypes. The chicken INDELs revealed by our study can be useful for future studies, including development of INDEL markers, construction of high density linkage map, INDEL arrays design, and hopefully, molecular breeding programs in chicken.
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spelling doaj.art-42d18ba6dd094e26a2f74183dc1139332022-12-22T03:03:44ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0198e10465210.1371/journal.pone.0104652Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.Yiyuan YanGuoqiang YiCongjiao SunLujiang QuNing YangInsertion and deletion (INDEL) is one of the main events contributing to genetic and phenotypic diversity, which receives less attention than SNP and large structural variation. To gain a better knowledge of INDEL variation in chicken genome, we applied next generation sequencing on 12 diverse chicken breeds at an average effective depth of 8.6. Over 1.3 million non-redundant short INDELs (1-49 bp) were obtained, the vast majority (92.48%) of which were novel. Follow-up validation assays confirmed that most (88.00%) of the randomly selected INDELs represent true variations. The majority (95.76%) of INDELs were less than 10 bp. Both the detected number and affected bases were larger for deletions than insertions. In total, INDELs covered 3.8 Mbp, corresponding to 0.36% of the chicken genome. The average genomic INDEL density was estimated as 0.49 per kb. INDELs were ubiquitous and distributed in a non-uniform fashion across chromosomes, with lower INDEL density in micro-chromosomes than in others, and some functional regions like exons and UTRs were prone to less INDELs than introns and intergenic regions. Nearly 620,253 INDELs fell in genic regions, 1,765 (0.28%) of which located in exons, spanning 1,358 (7.56%) unique Ensembl genes. Many of them are associated with economically important traits and some are the homologues of human disease-related genes. We demonstrate that sequencing multiple individuals at a medium depth offers a promising way for reliable identification of INDELs. The coding INDELs are valuable candidates for further elucidation of the association between genotypes and phenotypes. The chicken INDELs revealed by our study can be useful for future studies, including development of INDEL markers, construction of high density linkage map, INDEL arrays design, and hopefully, molecular breeding programs in chicken.http://europepmc.org/articles/PMC4136736?pdf=render
spellingShingle Yiyuan Yan
Guoqiang Yi
Congjiao Sun
Lujiang Qu
Ning Yang
Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
PLoS ONE
title Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
title_full Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
title_fullStr Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
title_full_unstemmed Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
title_short Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
title_sort genome wide characterization of insertion and deletion variation in chicken using next generation sequencing
url http://europepmc.org/articles/PMC4136736?pdf=render
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