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Intra- and Inter-individual genetic variation in human ribosomal RNAs

View ORCID ProfileArtem Babaian
doi: https://doi.org/10.1101/118760
Artem Babaian
University of British Columbia
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  • For correspondence: ababaian@bccrc.ca
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Abstract

The ribosome is an ancient RNA-protein complex essential for translating DNA to protein. At its core are the ribosomal RNAs (rRNAs), the most abundant RNA in the cell. To support high levels of transcription, repetitive arrays of ribosomal DNA (rDNA) are necessary and the long-standing hypothesis is that they undergo sequence homogenization towards rDNA uniformity. Here I present evidence of the rich genetic diversity in human rDNA, both within and between individuals. Using state-of-the-art genome sequencing data revealed an average of 192.7 intra-individual variants, including some deeply penetrating the rDNA copies, such as the bi-allelically expressed 28S.59A>G. From 104 diverse genomes, 947 high-confidence variants were identified and unmask a hidden genetic diversity of humans. These findings support the emerging concept that ribosomes are heterogeneous within cells and extends the heterogeneity into the realm of population genetics. Fundamentally, do our ribosomal variants determine how our cells interpret the genome?

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted March 21, 2017.
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Intra- and Inter-individual genetic variation in human ribosomal RNAs
Artem Babaian
bioRxiv 118760; doi: https://doi.org/10.1101/118760
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Intra- and Inter-individual genetic variation in human ribosomal RNAs
Artem Babaian
bioRxiv 118760; doi: https://doi.org/10.1101/118760

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