Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development


Autoři: Katherine I. Farley-Barnes aff001;  Engin Deniz aff002;  Maya M. Overton aff001;  Mustafa K. Khokha aff002;  Susan J. Baserga aff001
Působiště autorů: Department of Molecular Biophysics & Biochemistry, Yale University School of Medicine, New Haven, Connecticut, United States of America aff001;  Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, United States of America aff002;  Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America aff003;  Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, Connecticut, United States of America aff004
Vyšlo v časopise: Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development. PLoS Genet 16(8): e32767. doi:10.1371/journal.pgen.1008967
Kategorie: Research Article
doi: 10.1371/journal.pgen.1008967

Souhrn

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.

Klíčová slova:

Biosynthesis – Messenger RNA – Northern blot – Ribosomes – Small interfering RNA – Transcription factors – Paired box – Neural crest


Zdroje

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