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. 2022 Feb 28;13:843014. doi: 10.3389/fgene.2022.843014

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Copyright © 2022 Boivin and Charlet-Berguerand.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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CGG repeat expansions are translated into polyG proteins in FXTAS and NIID. (A) Scheme of FMR1 indicating FMRpolyG upstream ORF and FMRP main ORF localization. (B) Scheme of NOTCH2NLC indicating uN2CpolyG upstream ORF and NOTCH2NLC (abbreviated N2C) main ORF localization. Initiation codons and stop codons are indicated in red for uORFs and in blue for the main ORFs. Near-cognate initiations codons are indicated in bold yellow. (C) Protein sequences of FMRpolyG and uN2CpolyG show no similitude beyond their polyglycine stretch. (D) Sequences of the putative uORFs embedded within NOTCH2, NOTCHNLA, B and C 5′UTRs. Variant amino acids are indicated in bold. The sequence required for uN2C to interact with KU70/KU80 is indicated in blue.