2017
DOI: 10.1038/s41588-017-0010-y
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Hidden genetic variation shapes the structure of functional elements in Drosophila

Abstract: Mutations that add, subtract, rearrange, or otherwise refashion genome structure often affect phenotypes, though the fragmented nature of most contemporary assemblies obscure them. To discover such mutations, we assembled the first new reference quality genome of Drosophila melanogaster since its initial sequencing. By comparing this genome to the existing D. melanogaster assembly, we create a structural variant map of unprecedented resolution, revealing extensive genetic variation that has remained hidden unt… Show more

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Cited by 139 publications
(178 citation statements)
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“…SVs including deletions and insertions could affect gene expression and phenotypic traits . In A. monticola , a total of 7 753 594 single nucleotide polymorphisms (SNPs), 17 226 deletions, and 7504 insertions were identified relative to A. duranensis and A. ipaensis genomes (Table S13a, Supporting Information).…”
Section: Resultsmentioning
confidence: 99%
“…SVs including deletions and insertions could affect gene expression and phenotypic traits . In A. monticola , a total of 7 753 594 single nucleotide polymorphisms (SNPs), 17 226 deletions, and 7504 insertions were identified relative to A. duranensis and A. ipaensis genomes (Table S13a, Supporting Information).…”
Section: Resultsmentioning
confidence: 99%
“…Accumulating evidence suggests that most transposons in fly genome are still, although at a low frequency, capable of mobilizing, contributing to 79% of large genetic variation (Chakraborty et al, 2018; Kaminker et al, 2002). Examples include: Doc recently transposed into the white locus generated the first documented white-eye fly (Driver et al, 1989; Morgan, 1910); Accord mobilization contributes to the tandem duplication of the genes associated with nicotine resistance (Chakraborty et al, 2018); mdg3 inserted into the 3’UTR of mRpL48 and fritz (Chakraborty et al, 2018); copia mobilized into tonally (Chakraborty et al, 2018). Although these families are all targeted by the piRNA machinery (Senti et al, 2015), we barely detect any mobilization for them in all samples we examined, even upon blocking the piRNA pathway.…”
Section: Discussionmentioning
confidence: 99%
“…; but see Chakraborty et al. ), which may lead to fewer opportunities for local adaptation by way of major segregating inversions.…”
Section: Discussionmentioning
confidence: 99%
“…Genomic differentiation between tropical and temperate populations of Australian D. melanogaster has been linked to these inversion polymorphisms (Turner et al 2008;Kolaczkowski et al 2011;Fabian et al 2012;Kapun et al 2016). Inversion polymorphisms in D. melanogaster appear to be less common on the X-chromosomes compared to the autosomes (Charlesworth et al 1987;Kolaczkowski et al 2011;; but see Chakraborty et al 2018), which may lead to fewer opportunities for local adaptation by way of major segregating inversions.…”
Section: Predictions and Empirical Patternsmentioning
confidence: 99%