Duplication is a prominent mechanism of recent gene birth in Caenorhabditis elegans

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Title: Duplication is a prominent mechanism of recent gene birth in Caenorhabditis elegans
Authors: Riccio, Cristian
Committee Members: Hemberg, Martin; Miska, Eric
Summary: The high number of available reference genomes for different species and their comparison has enabled the elucidation of gene birth mechanisms that act over a long evolutionary timescale. However, the lack of several reference-quality genomes for different individuals of the same species has hampered the study of the mechanisms of more evolutionarily young gene births. Despite the high throughput brought about by second-generation sequencing technologies, their short read length has limited the study of genetic diversity to single nucleotide polymorphisms (SNPs) and short indels. However, in order to study gene-level events, we need to characterise the genetic diversity of a species comprehensively, including structural variants (SVs) (> 50 bp). I present the most comprehensive set of genomes and SVs for Caenorhabditis elegans. I have assembled a high-quality genome for each of 20 wild isolates of the nematode using long and short read sequencing. I show that 1,587 transcripts are deleted among the wild isolates and thus sketch the  first definition of the core genome of C. elegans. I present the case of a highly proliferative transposon harbouring a transcription factor binding site (TFBS) and use it to address the question of transposon co-option in this model organism. Finally, using this dataset, I show that tandem gene duplication is a prominent gene birth mechanism, whereas horizontal gene transfer (HGT) played little or no role in the birth of recent C. elegans genes. Additionally, I show that G protein-coupled receptors (GPCRs) have high levels of presence/absence variation (PAV) and discuss the significance of this  finding in light of the ecology of this little worm.
URL: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.845650
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  Label: Title
  Group: Ti
  Data: Duplication is a prominent mechanism of recent gene birth in Caenorhabditis elegans
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Riccio%2C+Cristian%22">Riccio, Cristian</searchLink>
– Name: Author
  Label: Committee Members
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  Data: <searchLink fieldCode="CO" term="%22Hemberg%2C+Martin%22">Hemberg, Martin</searchLink>; <searchLink fieldCode="CO" term="%22Miska%2C+Eric%22">Miska, Eric</searchLink>
– Name: Abstract
  Label: Summary
  Group: Ab
  Data: The high number of available reference genomes for different species and their comparison has enabled the elucidation of gene birth mechanisms that act over a long evolutionary timescale. However, the lack of several reference-quality genomes for different individuals of the same species has hampered the study of the mechanisms of more evolutionarily young gene births. Despite the high throughput brought about by second-generation sequencing technologies, their short read length has limited the study of genetic diversity to single nucleotide polymorphisms (SNPs) and short indels. However, in order to study gene-level events, we need to characterise the genetic diversity of a species comprehensively, including structural variants (SVs) (> 50 bp). I present the most comprehensive set of genomes and SVs for Caenorhabditis elegans. I have assembled a high-quality genome for each of 20 wild isolates of the nematode using long and short read sequencing. I show that 1,587 transcripts are deleted among the wild isolates and thus sketch the  first definition of the core genome of C. elegans. I present the case of a highly proliferative transposon harbouring a transcription factor binding site (TFBS) and use it to address the question of transposon co-option in this model organism. Finally, using this dataset, I show that tandem gene duplication is a prominent gene birth mechanism, whereas horizontal gene transfer (HGT) played little or no role in the birth of recent C. elegans genes. Additionally, I show that G protein-coupled receptors (GPCRs) have high levels of presence/absence variation (PAV) and discuss the significance of this  finding in light of the ecology of this little worm.
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RecordInfo BibRecord:
  BibEntity:
    Languages:
      – Code: eng
        Text: English
    Subjects:
      – SubjectFull: genomics ; biology ; sequencing ; DNA ; evolution ; gene birth ; PacBio ; Pacific Biosciences ; long reads ; genomes ; genome assembly ; bioinformatics
        Type: general
    Titles:
      – TitleFull: Duplication is a prominent mechanism of recent gene birth in Caenorhabditis elegans
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Riccio, Cristian
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      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Type: published
              Y: 2022
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