Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism

Detalhes bibliográficos
Autor(a) principal: Jehangir, Maryam [UNESP]
Data de Publicação: 2017
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://hdl.handle.net/11449/151740
Resumo: B chromosomes (Bs) are additional to the standard regular chromosome set (As), and present in all groups of eukaryotes. A reference genome is key to understand genomics aspects of an organism. Here, we present the de novo genome assembly of the cichlid fish A. latifasciata: a well known model to study Bs. The assembly of A. latifasciata genome has not been performed so far. The main focus of this study is to analyze and assemble the A. latifasciata genome with no B (B-) and with B (B+) chromosomes. The assembled draft B- and B+ genomes comprised of 774 Mb and 781 Mb with 1.8 Mb and 2.5Mb of N50 value of scaffolds respectively, and spanning 23,391 number of genes. High coverage data with Illumina sequencing was obtained for males and females with 0B, 1B and 2B chromosomes to provide information regarding the population polymorphism of these genomes. We observed a high scale genomic diversity in all analyzed genomes showing a high rate/frequency of population polymorphism with no evident effect of B chromosome presence. However, the B specific single nucleotide polymorphisms were found in the sequences that were located on B chromosome. While, the whole-genome rearrangements (inter chromosomal translocations) were detected in B+ genome, and structural variations including insertions, deletions, inversions and duplications were predicted in a representative genomic region of B chromosome. These results bring an evidence that existence of Bs in a genome should favour the accumulations of mutations and structural polymorphisms in the amlified genomic regions present on B chromosmes. In addition, we also performed the coverage based sequence study coupled with FISH mapping which revealed: 1) the existence of high copy number of inactive Indian Hedgehog b (Ihhb) gene on B chromosome emerging as a pseudogene after series of duplication events ultimately becoming a major structural component of B; 2) B chromosome have incorporated the entire 45S RNA cluster (18S ribosomal RNA, internal transcribed spacer 1, 5.8S ribosomal RNA, internal transcribed spacer 2, and 28S ribosomal RNA) from the A complement set. The assembly of A. latifasciata genome will serve as a reference for genetic analysis and the approach presented in this paper opens the perspective to advance understanding B chromosomes biology.
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spelling Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphismMontagem de genoma do peixe cíclido Astatotilapia latifasciata com foco em genômica populacional de polimorfismo cromossomo BGenome AssemblyCichlid fishB chromosomeGenomeSequencingPolymorphismEvolutionB chromosomes (Bs) are additional to the standard regular chromosome set (As), and present in all groups of eukaryotes. A reference genome is key to understand genomics aspects of an organism. Here, we present the de novo genome assembly of the cichlid fish A. latifasciata: a well known model to study Bs. The assembly of A. latifasciata genome has not been performed so far. The main focus of this study is to analyze and assemble the A. latifasciata genome with no B (B-) and with B (B+) chromosomes. The assembled draft B- and B+ genomes comprised of 774 Mb and 781 Mb with 1.8 Mb and 2.5Mb of N50 value of scaffolds respectively, and spanning 23,391 number of genes. High coverage data with Illumina sequencing was obtained for males and females with 0B, 1B and 2B chromosomes to provide information regarding the population polymorphism of these genomes. We observed a high scale genomic diversity in all analyzed genomes showing a high rate/frequency of population polymorphism with no evident effect of B chromosome presence. However, the B specific single nucleotide polymorphisms were found in the sequences that were located on B chromosome. While, the whole-genome rearrangements (inter chromosomal translocations) were detected in B+ genome, and structural variations including insertions, deletions, inversions and duplications were predicted in a representative genomic region of B chromosome. These results bring an evidence that existence of Bs in a genome should favour the accumulations of mutations and structural polymorphisms in the amlified genomic regions present on B chromosmes. In addition, we also performed the coverage based sequence study coupled with FISH mapping which revealed: 1) the existence of high copy number of inactive Indian Hedgehog b (Ihhb) gene on B chromosome emerging as a pseudogene after series of duplication events ultimately becoming a major structural component of B; 2) B chromosome have incorporated the entire 45S RNA cluster (18S ribosomal RNA, internal transcribed spacer 1, 5.8S ribosomal RNA, internal transcribed spacer 2, and 28S ribosomal RNA) from the A complement set. The assembly of A. latifasciata genome will serve as a reference for genetic analysis and the approach presented in this paper opens the perspective to advance understanding B chromosomes biology.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP: 2014/17683-6Universidade Estadual Paulista (Unesp)Martins, Cesar [UNESP]Valente, Guilherme Targino [UNESP]Universidade Estadual Paulista (Unesp)Jehangir, Maryam [UNESP]2017-09-28T17:43:42Z2017-09-28T17:43:42Z2017-08-11info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfapplication/pdfhttp://hdl.handle.net/11449/15174000089249033004064026P988588006994253520000-0003-3534-974Xenginfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESP2023-12-03T06:10:48Zoai:repositorio.unesp.br:11449/151740Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T19:21:08.308174Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
Montagem de genoma do peixe cíclido Astatotilapia latifasciata com foco em genômica populacional de polimorfismo cromossomo B
title Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
spellingShingle Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
Jehangir, Maryam [UNESP]
Genome Assembly
Cichlid fish
B chromosome
Genome
Sequencing
Polymorphism
Evolution
title_short Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
title_full Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
title_fullStr Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
title_full_unstemmed Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
title_sort Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
author Jehangir, Maryam [UNESP]
author_facet Jehangir, Maryam [UNESP]
author_role author
dc.contributor.none.fl_str_mv Martins, Cesar [UNESP]
Valente, Guilherme Targino [UNESP]
Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Jehangir, Maryam [UNESP]
dc.subject.por.fl_str_mv Genome Assembly
Cichlid fish
B chromosome
Genome
Sequencing
Polymorphism
Evolution
topic Genome Assembly
Cichlid fish
B chromosome
Genome
Sequencing
Polymorphism
Evolution
description B chromosomes (Bs) are additional to the standard regular chromosome set (As), and present in all groups of eukaryotes. A reference genome is key to understand genomics aspects of an organism. Here, we present the de novo genome assembly of the cichlid fish A. latifasciata: a well known model to study Bs. The assembly of A. latifasciata genome has not been performed so far. The main focus of this study is to analyze and assemble the A. latifasciata genome with no B (B-) and with B (B+) chromosomes. The assembled draft B- and B+ genomes comprised of 774 Mb and 781 Mb with 1.8 Mb and 2.5Mb of N50 value of scaffolds respectively, and spanning 23,391 number of genes. High coverage data with Illumina sequencing was obtained for males and females with 0B, 1B and 2B chromosomes to provide information regarding the population polymorphism of these genomes. We observed a high scale genomic diversity in all analyzed genomes showing a high rate/frequency of population polymorphism with no evident effect of B chromosome presence. However, the B specific single nucleotide polymorphisms were found in the sequences that were located on B chromosome. While, the whole-genome rearrangements (inter chromosomal translocations) were detected in B+ genome, and structural variations including insertions, deletions, inversions and duplications were predicted in a representative genomic region of B chromosome. These results bring an evidence that existence of Bs in a genome should favour the accumulations of mutations and structural polymorphisms in the amlified genomic regions present on B chromosmes. In addition, we also performed the coverage based sequence study coupled with FISH mapping which revealed: 1) the existence of high copy number of inactive Indian Hedgehog b (Ihhb) gene on B chromosome emerging as a pseudogene after series of duplication events ultimately becoming a major structural component of B; 2) B chromosome have incorporated the entire 45S RNA cluster (18S ribosomal RNA, internal transcribed spacer 1, 5.8S ribosomal RNA, internal transcribed spacer 2, and 28S ribosomal RNA) from the A complement set. The assembly of A. latifasciata genome will serve as a reference for genetic analysis and the approach presented in this paper opens the perspective to advance understanding B chromosomes biology.
publishDate 2017
dc.date.none.fl_str_mv 2017-09-28T17:43:42Z
2017-09-28T17:43:42Z
2017-08-11
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/11449/151740
000892490
33004064026P9
8858800699425352
0000-0003-3534-974X
url http://hdl.handle.net/11449/151740
identifier_str_mv 000892490
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dc.language.iso.fl_str_mv eng
language eng
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eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Universidade Estadual Paulista (Unesp)
publisher.none.fl_str_mv Universidade Estadual Paulista (Unesp)
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
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