Chromosomal rearrangements as a source of new gene formation in Drosophila yakuba

English version

Autoři: Nicholas B. Stewart ^aff001; Rebekah L. Rogers ^aff001
Působiště autorů: Department of Bioinformatics and Genomics, University of North Carolina, Charlotte, NC, United States of America ^aff001; Department of Biological Sciences, Ft Hays State University, Ft Hays, KS, United States of America ^aff002
Vyšlo v časopise: Chromosomal rearrangements as a source of new gene formation in Drosophila yakuba. PLoS Genet 15(9): e32767. doi:10.1371/journal.pgen.1008314
Kategorie: Research Article
doi: https://doi.org/10.1371/journal.pgen.1008314

Souhrn

The origins of new genes are among the most fundamental questions in evolutionary biology. Our understanding of the ways that new genetic material appears and how that genetic material shapes population variation remains incomplete. De novo genes and duplicate genes are a key source of new genetic material on which selection acts. To better understand the origins of these new gene sequences, we explored the ways that structural variation might alter expression patterns and form novel transcripts. We provide evidence that chromosomal rearrangements are a source of novel genetic variation that facilitates the formation of de novo exons in Drosophila. We identify 51 cases of de novo exon formation created by chromosomal rearrangements in 14 strains of D. yakuba. These new genes inherit transcription start signals and open reading frames when the 5’ end of existing genes are combined with previously untranscribed regions. Such new genes would appear with novel peptide sequences, without the necessity for secondary transitions from non-coding RNA to protein. This mechanism of new peptide formations contrasts with canonical theory of de novo gene progression requiring non-coding intermediaries that must acquire new mutations prior to loss via pseudogenization. Hence, these mutations offer a means to de novo gene creation and protein sequence formation in a single mutational step, answering a long standing open question concerning new gene formation. We further identify gene expression changes to 134 existing genes, indicating that these mutations can alter gene regulation. Population variability for chromosomal rearrangements is considerable, with 2368 rearrangements observed across 14 inbred lines. More rearrangements were identified on the X chromosome than any of the autosomes, suggesting the X is more susceptible to chromosome alterations. Together, these results suggest that chromosomal rearrangements are a source of variation in populations that is likely to be important to explain genetic and therefore phenotypic diversity.

Klíčová slova:

Drosophila melanogaster – Gene expression – Chromosome mapping – Chromosome pairs – Population genetics – Testes – X chromosomes – Invertebrate genomics

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