Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

• Published in: American journal of human genetics Vol. 108; no. 7; pp. 1318 - 1329
• Main Authors: Wallmeier, Julia, Bracht, Diana, Alsaif, Hessa S., Dougherty, Gerard W., Olbrich, Heike, Cindric, Sandra, Dzietko, Mark, Heyer, Christoph, Teig, Norbert, Thiels, Charlotte, Faqeih, Eissa, Al-Hashim, Aqeela, Khan, Sameena, Mogarri, Ibrahim, Almannai, Mohammed, Al Otaibi, Wadha, Alkuraya, Fowzan S., Koerner-Rettberg, Cordula, Omran, Heymut
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.07.2021; Elsevier
• Subjects: Cell Differentiation - genetics; Cells, Cultured; cilia; ciliogenesis; Ciliopathies - genetics; Genes, Recessive; Homozygote; Humans; lissencephaly; Lissencephaly - genetics; Loss of Function Mutation; Microscopy, Video; motile ciliopathy; Mucociliary Clearance - genetics; PCD; primary ciliary dyskinesia; reduced generation of multiple motile cilia; Respiratory Mucosa - cytology; Respiratory Mucosa - metabolism; Respiratory Mucosa - ultrastructure; RGMC; TP73; Tumor Protein p73 - genetics; Whole Exome Sequencing; PCD; lissencephaly; ciliogenesis; motile ciliopathy; reduced generation of multiple motile cilia; cilia; RGMC; primary ciliary dyskinesia; TP73

TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed non-oncogenic activities related to multiciliogenesis. Utilizing whole-exome sequencing analysis in a cohort of individuals with a mucociliary clea...