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PLoS Genet 2020 Aug 19;168:e1008967. doi: 10.1371/journal.pgen.1008967.
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Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.

Farley-Barnes KI , Deniz E , Overton MM , Khokha MK , Baserga SJ .

Dysregulation of ribosome production can lead to a number of developmental disorders called ribosomopathies. Despite the ubiquitous requirement for these cellular machines used in protein synthesis, ribosomopathies manifest in a tissue-specific manner, with many affecting the development of the face. Here we reveal yet another connection between craniofacial development and making ribosomes through the protein Paired Box 9 (PAX9). PAX9 functions as an RNA Polymerase II transcription factor to regulate the expression of proteins required for craniofacial and tooth development in humans. We now expand this function of PAX9 by demonstrating that PAX9 acts outside of the cell nucleolus to regulate the levels of proteins critical for building the small subunit of the ribosome. This function of PAX9 is conserved to the organism Xenopus tropicalis, an established model for human ribosomopathies. Depletion of pax9 leads to craniofacial defects due to abnormalities in neural crest development, a result consistent with that found for depletion of other ribosome biogenesis factors. This work highlights an unexpected layer of how the making of ribosomes is regulated in human cells and during embryonic development.

PubMed ID: 32813698
PMC ID: PMC7437866
Article link: PLoS Genet
Grant support: [+]

Species referenced: Xenopus tropicalis
Genes referenced: dtl pax9 psmd6 ptpru rps28 snai2 sox9 tcf3 twist1 utp4
Antibodies: Gapdh Ab5 Tp53 Ab1
gRNAs referenced: pax9 gRNA1 pax9 gRNA2

Phenotypes: Xtr + pax9 MO (Fig. 4 A r1c2) [+]

Article Images: [+] show captions
References [+] :
Ahmad, NOPdb: Nucleolar Proteome Database--2008 update. 2009, Pubmed