Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

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...

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Published inAmerican 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
LanguageEnglish
Published United States Elsevier Inc 01.07.2021
Elsevier
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Abstract 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 clearance disorder and cortical malformation, we identified homozygous loss-of-function variants in TP73 in seven individuals from five unrelated families. All affected individuals exhibit a chronic airway disease as well as a brain malformation consistent with lissencephaly. We performed high-speed video microscopy, immunofluorescence analyses, and transmission electron microscopy in respiratory epithelial cells after spheroid or air liquid interface culture to analyze ciliary function, ciliary length, and number of multiciliated cells (MCCs). The respiratory epithelial cells studied display reduced ciliary length and basal bodies mislocalized within the cytoplasm. The number of MCCs is severely reduced, consistent with a reduced number of cells expressing the transcription factors crucial for multiciliogenesis (FOXJ1, RFX2). Our data demonstrate that autosomal-recessive deleterious variants in the TP53 family member TP73 cause a mucociliary clearance disorder due to a defect in MCC differentiation.
AbstractList 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 clearance disorder and cortical malformation, we identified homozygous loss-of-function variants in TP73 in seven individuals from five unrelated families. All affected individuals exhibit a chronic airway disease as well as a brain malformation consistent with lissencephaly. We performed high-speed video microscopy, immunofluorescence analyses, and transmission electron microscopy in respiratory epithelial cells after spheroid or air liquid interface culture to analyze ciliary function, ciliary length, and number of multiciliated cells (MCCs). The respiratory epithelial cells studied display reduced ciliary length and basal bodies mislocalized within the cytoplasm. The number of MCCs is severely reduced, consistent with a reduced number of cells expressing the transcription factors crucial for multiciliogenesis (FOXJ1, RFX2). Our data demonstrate that autosomal-recessive deleterious variants in the TP53 family member TP73 cause a mucociliary clearance disorder due to a defect in MCC differentiation.
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 clearance disorder and cortical malformation, we identified homozygous loss-of-function variants in TP73 in seven individuals from five unrelated families. All affected individuals exhibit a chronic airway disease as well as a brain malformation consistent with lissencephaly. We performed high-speed video microscopy, immunofluorescence analyses, and transmission electron microscopy in respiratory epithelial cells after spheroid or air liquid interface culture to analyze ciliary function, ciliary length, and number of multiciliated cells (MCCs). The respiratory epithelial cells studied display reduced ciliary length and basal bodies mislocalized within the cytoplasm. The number of MCCs is severely reduced, consistent with a reduced number of cells expressing the transcription factors crucial for multiciliogenesis (FOXJ1, RFX2). Our data demonstrate that autosomal-recessive deleterious variants in the TP53 family member TP73 cause a mucociliary clearance disorder due to a defect in MCC differentiation.
Author Omran, Heymut
Al-Hashim, Aqeela
Olbrich, Heike
Teig, Norbert
Dzietko, Mark
Alkuraya, Fowzan S.
Al Otaibi, Wadha
Alsaif, Hessa S.
Khan, Sameena
Almannai, Mohammed
Wallmeier, Julia
Mogarri, Ibrahim
Dougherty, Gerard W.
Heyer, Christoph
Cindric, Sandra
Thiels, Charlotte
Faqeih, Eissa
Koerner-Rettberg, Cordula
Bracht, Diana
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  organization: Institute of Radiology and Pediatric Radiology, University Hospital, Ruhr University Bochum, 44791 Bochum, Germany
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  organization: Department of Neuropediatrics, University Children’s Hospital, Ruhr University Bochum, 44791 Bochum, Germany
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  givenname: Ibrahim
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  surname: Almannai
  fullname: Almannai, Mohammed
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  email: heymut.omran@ukmuenster.de
  organization: Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany
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Cites_doi 10.1016/j.semcdb.2017.09.031
10.1038/358015a0
10.1183/09031936.00052014
10.1016/j.ajhg.2015.08.012
10.1038/s41572-020-0209-6
10.1016/j.ajhg.2019.09.022
10.1055/s-2007-973750
10.1038/ng.2961
10.1152/ajplung.00471.2016
10.1038/ncomms5418
10.1038/nature07471
10.1002/ana.24793
10.1203/01.pdr.0000200809.21364.e2
10.1016/j.cell.2007.02.045
10.1016/j.ajhg.2019.04.011
10.1038/nmeth.2089
10.1002/humu.22957
10.1515/hsz-2015-0300
10.1242/jcs.233338
10.1002/ajmg.a.38245
10.1038/nrm.2017.21
10.1093/hmg/ddh219
10.1101/gad.279836.116
10.1371/journal.pgen.1006538
10.1158/1541-7786.371.2.7
10.1016/j.ajhg.2012.08.016
10.1016/j.celrep.2016.02.035
10.1378/chest.10-0175
10.1007/s12035-011-8172-6
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Issue 7
Keywords PCD
lissencephaly
ciliogenesis
motile ciliopathy
reduced generation of multiple motile cilia
cilia
RGMC
primary ciliary dyskinesia
TP73
Language English
License Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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References Hirst, Rutman, Williams, O’Callaghan (bib14) 2010; 138
Moll, Slade (bib3) 2004; 2
Olbrich, Schmidts, Werner, Onoufriadis, Loges, Raidt, Banki, Shoemark, Burgoyne, Al Turki (bib9) 2012; 91
Romero, Bahi-Buisson, Francis (bib32) 2018; 76
Yang, Walker, Bronson, Kaghad, Oosterwegel, Bonnin, Vagner, Bonnet, Dikkesk, Sharpe (bib26) 1993; 117
Altmüller, Motameny, Becker, Thiele, Chatterjee, Wollnik, Nürnberg (bib10) 2016; 397
Barkovich, Kuzniecky, Dobyns, Jackson, Becker, Evrard (bib24) 1996; 27
Olbrich, Cremers, Loges, Werner, Nielsen, Marthin (bib18) 2015; 97
Desikan, Barkovich (bib22) 2016; 80
Raidt, Wallmeier, Hjeij, Onnebrink, Pennekamp, Loges, Olbrich, Häffner, Dougherty, Omran, Werner (bib15) 2014; 44
Amirav, Wallmeier, Loges, Menchen, Pennekamp, Mussaffi, Abitbul, Avital, Bentur, Dougherty (bib33) 2016; 37
Ibañez-Tallon, Pagenstecher, Fliegauf, Olbrich, Kispert, Ketelsen, North, Heintz, Omran (bib29) 2004; 13
Wallmeier, Frank, Shoemark, Nöthe-Menchen, Cindric, Olbrich, Loges, Aprea, Dougherty, Pennekamp (bib11) 2019; 105
Marshall, Mays, Beeler, Rosenbluth, Boyd, Santos Guasch, Shaver, Tang, Liu, Shyr (bib6) 2016; 14
Wallmeier, Al-Mutairi, Chen, Loges, Pennekamp, Menchen, Ma, Shamseldin, Olbrich, Dougherty (bib17) 2014; 46
Olbrich, Horváth, Fekete, Loges, Storm van’s Gravesande, Blum, Hörmann, Omran (bib12) 2006; 59
Omran, Kobayashi, Olbrich, Tsukahara, Loges, Hagiwara, Zhang, Leblond, O’Toole, Hara (bib19) 2008; 456
Vikhreva, Melino, Amelio (bib2) 2018
Niklison-Chirou, Killick, Knight, Nicotera, Melino, Agostini (bib31) 2016
Monies, Abouelhoda, Assoum, Moghrabi, Rafiullah, Almontashiri, Alowain, Alzaidan, Alsayed, Subhani (bib20) 2019; 104
Spassky, Meunier (bib7) 2017; 18
Nemajerova, Moll (bib5) 2019; 132
Schneider, Rasband, Eliceiri (bib16) 2012; 9
Wallmeier, Nielsen, Kuehni, Lucas, Leigh, Zariwala, Omran (bib8) 2020; 6
Boon, Wallmeier, Ma, Loges, Jaspers, Olbrich, Dougherty, Raidt, Werner, Amirav (bib28) 2014; 5
Di Donato, Chiari, Mirzaa, Aldinger, Parrini, Olds, Barkovich, Guerrini, Dobyns (bib23) 2017; 173
Nemajerova, Kramer, Siller, Herr, Shomroni, Pena, Gallinas Suazo, Glaser, Wildung, Steffen (bib27) 2016; 30
Senoo, Pinto, Crum, McKeon (bib4) 2007; 129
Munye, Shoemark, Hirst, Delhove, Sharp, McKay, O’Callaghan, Baines, Howe, Hart (bib13) 2017; 312
Killick, Niklison-Chirou, Tomasini, Bano, Rufini, Grespi, Velletri, Tucci, Sayan, Conforti (bib25) 2011; 43
Lane (bib1) 1992; 358
Quigley, Kintner (bib30) 2017; 13
Senoo (10.1016/j.ajhg.2021.05.002_bib4) 2007; 129
Killick (10.1016/j.ajhg.2021.05.002_bib25) 2011; 43
Vikhreva (10.1016/j.ajhg.2021.05.002_bib2) 2018
Nemajerova (10.1016/j.ajhg.2021.05.002_bib5) 2019; 132
Desikan (10.1016/j.ajhg.2021.05.002_bib22) 2016; 80
Amirav (10.1016/j.ajhg.2021.05.002_bib33) 2016; 37
Moll (10.1016/j.ajhg.2021.05.002_bib3) 2004; 2
Di Donato (10.1016/j.ajhg.2021.05.002_bib23) 2017; 173
Nemajerova (10.1016/j.ajhg.2021.05.002_bib27) 2016; 30
Lane (10.1016/j.ajhg.2021.05.002_bib1) 1992; 358
Marshall (10.1016/j.ajhg.2021.05.002_bib6) 2016; 14
Munye (10.1016/j.ajhg.2021.05.002_bib13) 2017; 312
Quigley (10.1016/j.ajhg.2021.05.002_bib30) 2017; 13
Romero (10.1016/j.ajhg.2021.05.002_bib32) 2018; 76
Hirst (10.1016/j.ajhg.2021.05.002_bib14) 2010; 138
Omran (10.1016/j.ajhg.2021.05.002_bib19) 2008; 456
Olbrich (10.1016/j.ajhg.2021.05.002_bib9) 2012; 91
Olbrich (10.1016/j.ajhg.2021.05.002_bib12) 2006; 59
Ibañez-Tallon (10.1016/j.ajhg.2021.05.002_bib29) 2004; 13
Barkovich (10.1016/j.ajhg.2021.05.002_bib24) 1996; 27
Monies (10.1016/j.ajhg.2021.05.002_bib20) 2019; 104
Schneider (10.1016/j.ajhg.2021.05.002_bib16) 2012; 9
Niklison-Chirou (10.1016/j.ajhg.2021.05.002_bib31) 2016
Wallmeier (10.1016/j.ajhg.2021.05.002_bib8) 2020; 6
Yang (10.1016/j.ajhg.2021.05.002_bib26) 1993; 117
Wallmeier (10.1016/j.ajhg.2021.05.002_bib11) 2019; 105
Boon (10.1016/j.ajhg.2021.05.002_bib28) 2014; 5
Spassky (10.1016/j.ajhg.2021.05.002_bib7) 2017; 18
Raidt (10.1016/j.ajhg.2021.05.002_bib15) 2014; 44
Wallmeier (10.1016/j.ajhg.2021.05.002_bib17) 2014; 46
Olbrich (10.1016/j.ajhg.2021.05.002_bib18) 2015; 97
Altmüller (10.1016/j.ajhg.2021.05.002_bib10) 2016; 397
References_xml – volume: 173
  start-page: 1473
  year: 2017
  end-page: 1488
  ident: bib23
  article-title: Lissencephaly: Expanded imaging and clinical classification
  publication-title: Am. J. Med. Genet. A.
  contributor:
    fullname: Dobyns
– start-page: 73
  year: 2018
  ident: bib2
  article-title: Alternative Splicing: Exploring a Biological Role for the C-Terminal Isoforms
  contributor:
    fullname: Amelio
– volume: 129
  start-page: 523
  year: 2007
  end-page: 536
  ident: bib4
  article-title: p63 Is essential for the proliferative potential of stem cells in stratified epithelia
  publication-title: Cell
  contributor:
    fullname: McKeon
– volume: 138
  start-page: 1441
  year: 2010
  end-page: 1447
  ident: bib14
  article-title: Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia
  publication-title: Chest
  contributor:
    fullname: O’Callaghan
– volume: 117
  start-page: 1321
  year: 1993
  end-page: 1331
  ident: bib26
  article-title: P73-Deficient mice have neurological, Pheromonal and Inflammatory Defects but lack spontaneous tumours
  publication-title: Development
  contributor:
    fullname: Sharpe
– volume: 76
  start-page: 33
  year: 2018
  end-page: 75
  ident: bib32
  article-title: Genetics and mechanisms leading to human cortical malformations
  publication-title: Semin. Cell Dev. Biol.
  contributor:
    fullname: Francis
– volume: 456
  start-page: 611
  year: 2008
  end-page: 616
  ident: bib19
  article-title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
  publication-title: Nature
  contributor:
    fullname: Hara
– volume: 6
  start-page: 77
  year: 2020
  ident: bib8
  article-title: Motile ciliopathies
  publication-title: Nat. Rev. Dis. Primers
  contributor:
    fullname: Omran
– volume: 105
  start-page: 1030
  year: 2019
  end-page: 1039
  ident: bib11
  article-title: De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Pennekamp
– volume: 9
  start-page: 671
  year: 2012
  end-page: 675
  ident: bib16
  article-title: NIH Image to ImageJ: 25 years of image analysis
  publication-title: Nat. Methods
  contributor:
    fullname: Eliceiri
– volume: 5
  start-page: 4418
  year: 2014
  ident: bib28
  article-title: MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
  publication-title: Nat. Commun.
  contributor:
    fullname: Amirav
– volume: 13
  start-page: e1006538
  year: 2017
  ident: bib30
  article-title: Rfx2 Stabilizes Foxj1 Binding at Chromatin Loops to Enable Multiciliated Cell Gene Expression
  publication-title: PLoS Genet.
  contributor:
    fullname: Kintner
– year: 2016
  ident: bib31
  article-title: How Does p73 Cause Neuronal Defects?
  contributor:
    fullname: Agostini
– volume: 44
  start-page: 1579
  year: 2014
  end-page: 1588
  ident: bib15
  article-title: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
  publication-title: Eur. Respir. J.
  contributor:
    fullname: Werner
– volume: 59
  start-page: 418
  year: 2006
  end-page: 422
  ident: bib12
  article-title: Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia
  publication-title: Pediatr. Res.
  contributor:
    fullname: Omran
– volume: 30
  start-page: 1300
  year: 2016
  end-page: 1312
  ident: bib27
  article-title: TAp73 is a central transcriptional regulator of airway multiciliogenesis
  publication-title: Genes Dev.
  contributor:
    fullname: Steffen
– volume: 37
  start-page: 396
  year: 2016
  end-page: 405
  ident: bib33
  article-title: Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis
  publication-title: Hum. Mutat.
  contributor:
    fullname: Dougherty
– volume: 2
  start-page: 371
  year: 2004
  end-page: 386
  ident: bib3
  article-title: p63 and p73: roles in development and tumor formation
  publication-title: Mol. Cancer Res.
  contributor:
    fullname: Slade
– volume: 104
  start-page: 1182
  year: 2019
  end-page: 1201
  ident: bib20
  article-title: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Subhani
– volume: 91
  start-page: 672
  year: 2012
  end-page: 684
  ident: bib9
  article-title: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Al Turki
– volume: 397
  start-page: 791
  year: 2016
  end-page: 801
  ident: bib10
  article-title: A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
  publication-title: Biol. Chem.
  contributor:
    fullname: Nürnberg
– volume: 132
  start-page: 132
  year: 2019
  ident: bib5
  article-title: Tissue-specific roles of p73 in development and homeostasis
  publication-title: J. Cell Sci.
  contributor:
    fullname: Moll
– volume: 97
  start-page: 546
  year: 2015
  end-page: 554
  ident: bib18
  article-title: Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Marthin
– volume: 80
  start-page: 797
  year: 2016
  end-page: 810
  ident: bib22
  article-title: Malformations of cortical development
  publication-title: Ann. Neurol.
  contributor:
    fullname: Barkovich
– volume: 14
  start-page: 2289
  year: 2016
  end-page: 2300
  ident: bib6
  article-title: p73 Is Required for Multiciliogenesis and Regulates the Foxj1-Associated Gene Network
  publication-title: Cell Rep.
  contributor:
    fullname: Shyr
– volume: 18
  start-page: 423
  year: 2017
  end-page: 436
  ident: bib7
  article-title: The development and functions of multiciliated epithelia
  publication-title: Nat. Rev. Mol. Cell Biol.
  contributor:
    fullname: Meunier
– volume: 312
  start-page: L258
  year: 2017
  end-page: L267
  ident: bib13
  article-title: BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity
  publication-title: Am. J. Physiol. Lung Cell. Mol. Physiol.
  contributor:
    fullname: Hart
– volume: 358
  start-page: 15
  year: 1992
  end-page: 16
  ident: bib1
  article-title: Cancer. p53, guardian of the genome
  publication-title: Nature
  contributor:
    fullname: Lane
– volume: 43
  start-page: 139
  year: 2011
  end-page: 146
  ident: bib25
  article-title: p73: a multifunctional protein in neurobiology
  publication-title: Mol. Neurobiol.
  contributor:
    fullname: Conforti
– volume: 13
  start-page: 2133
  year: 2004
  end-page: 2141
  ident: bib29
  article-title: Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
  publication-title: Hum. Mol. Genet.
  contributor:
    fullname: Omran
– volume: 46
  start-page: 646
  year: 2014
  end-page: 651
  ident: bib17
  article-title: Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
  publication-title: Nat. Genet.
  contributor:
    fullname: Dougherty
– volume: 27
  start-page: 59
  year: 1996
  end-page: 63
  ident: bib24
  article-title: A classification scheme for malformations of cortical development
  publication-title: Neuropediatrics
  contributor:
    fullname: Evrard
– volume: 76
  start-page: 33
  year: 2018
  ident: 10.1016/j.ajhg.2021.05.002_bib32
  article-title: Genetics and mechanisms leading to human cortical malformations
  publication-title: Semin. Cell Dev. Biol.
  doi: 10.1016/j.semcdb.2017.09.031
  contributor:
    fullname: Romero
– volume: 358
  start-page: 15
  year: 1992
  ident: 10.1016/j.ajhg.2021.05.002_bib1
  article-title: Cancer. p53, guardian of the genome
  publication-title: Nature
  doi: 10.1038/358015a0
  contributor:
    fullname: Lane
– volume: 44
  start-page: 1579
  year: 2014
  ident: 10.1016/j.ajhg.2021.05.002_bib15
  article-title: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
  publication-title: Eur. Respir. J.
  doi: 10.1183/09031936.00052014
  contributor:
    fullname: Raidt
– volume: 97
  start-page: 546
  year: 2015
  ident: 10.1016/j.ajhg.2021.05.002_bib18
  article-title: Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2015.08.012
  contributor:
    fullname: Olbrich
– volume: 6
  start-page: 77
  year: 2020
  ident: 10.1016/j.ajhg.2021.05.002_bib8
  article-title: Motile ciliopathies
  publication-title: Nat. Rev. Dis. Primers
  doi: 10.1038/s41572-020-0209-6
  contributor:
    fullname: Wallmeier
– volume: 105
  start-page: 1030
  year: 2019
  ident: 10.1016/j.ajhg.2021.05.002_bib11
  article-title: De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2019.09.022
  contributor:
    fullname: Wallmeier
– volume: 27
  start-page: 59
  year: 1996
  ident: 10.1016/j.ajhg.2021.05.002_bib24
  article-title: A classification scheme for malformations of cortical development
  publication-title: Neuropediatrics
  doi: 10.1055/s-2007-973750
  contributor:
    fullname: Barkovich
– volume: 46
  start-page: 646
  year: 2014
  ident: 10.1016/j.ajhg.2021.05.002_bib17
  article-title: Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2961
  contributor:
    fullname: Wallmeier
– volume: 312
  start-page: L258
  year: 2017
  ident: 10.1016/j.ajhg.2021.05.002_bib13
  article-title: BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity
  publication-title: Am. J. Physiol. Lung Cell. Mol. Physiol.
  doi: 10.1152/ajplung.00471.2016
  contributor:
    fullname: Munye
– volume: 5
  start-page: 4418
  year: 2014
  ident: 10.1016/j.ajhg.2021.05.002_bib28
  article-title: MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
  publication-title: Nat. Commun.
  doi: 10.1038/ncomms5418
  contributor:
    fullname: Boon
– volume: 456
  start-page: 611
  year: 2008
  ident: 10.1016/j.ajhg.2021.05.002_bib19
  article-title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
  publication-title: Nature
  doi: 10.1038/nature07471
  contributor:
    fullname: Omran
– volume: 80
  start-page: 797
  year: 2016
  ident: 10.1016/j.ajhg.2021.05.002_bib22
  article-title: Malformations of cortical development
  publication-title: Ann. Neurol.
  doi: 10.1002/ana.24793
  contributor:
    fullname: Desikan
– volume: 59
  start-page: 418
  year: 2006
  ident: 10.1016/j.ajhg.2021.05.002_bib12
  article-title: Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia
  publication-title: Pediatr. Res.
  doi: 10.1203/01.pdr.0000200809.21364.e2
  contributor:
    fullname: Olbrich
– start-page: 73
  year: 2018
  ident: 10.1016/j.ajhg.2021.05.002_bib2
  contributor:
    fullname: Vikhreva
– volume: 129
  start-page: 523
  year: 2007
  ident: 10.1016/j.ajhg.2021.05.002_bib4
  article-title: p63 Is essential for the proliferative potential of stem cells in stratified epithelia
  publication-title: Cell
  doi: 10.1016/j.cell.2007.02.045
  contributor:
    fullname: Senoo
– year: 2016
  ident: 10.1016/j.ajhg.2021.05.002_bib31
  contributor:
    fullname: Niklison-Chirou
– volume: 104
  start-page: 1182
  year: 2019
  ident: 10.1016/j.ajhg.2021.05.002_bib20
  article-title: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2019.04.011
  contributor:
    fullname: Monies
– volume: 9
  start-page: 671
  year: 2012
  ident: 10.1016/j.ajhg.2021.05.002_bib16
  article-title: NIH Image to ImageJ: 25 years of image analysis
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.2089
  contributor:
    fullname: Schneider
– volume: 37
  start-page: 396
  year: 2016
  ident: 10.1016/j.ajhg.2021.05.002_bib33
  article-title: Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.22957
  contributor:
    fullname: Amirav
– volume: 397
  start-page: 791
  year: 2016
  ident: 10.1016/j.ajhg.2021.05.002_bib10
  article-title: A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
  publication-title: Biol. Chem.
  doi: 10.1515/hsz-2015-0300
  contributor:
    fullname: Altmüller
– volume: 132
  start-page: 132
  year: 2019
  ident: 10.1016/j.ajhg.2021.05.002_bib5
  article-title: Tissue-specific roles of p73 in development and homeostasis
  publication-title: J. Cell Sci.
  doi: 10.1242/jcs.233338
  contributor:
    fullname: Nemajerova
– volume: 173
  start-page: 1473
  year: 2017
  ident: 10.1016/j.ajhg.2021.05.002_bib23
  article-title: Lissencephaly: Expanded imaging and clinical classification
  publication-title: Am. J. Med. Genet. A.
  doi: 10.1002/ajmg.a.38245
  contributor:
    fullname: Di Donato
– volume: 18
  start-page: 423
  year: 2017
  ident: 10.1016/j.ajhg.2021.05.002_bib7
  article-title: The development and functions of multiciliated epithelia
  publication-title: Nat. Rev. Mol. Cell Biol.
  doi: 10.1038/nrm.2017.21
  contributor:
    fullname: Spassky
– volume: 13
  start-page: 2133
  year: 2004
  ident: 10.1016/j.ajhg.2021.05.002_bib29
  article-title: Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddh219
  contributor:
    fullname: Ibañez-Tallon
– volume: 30
  start-page: 1300
  year: 2016
  ident: 10.1016/j.ajhg.2021.05.002_bib27
  article-title: TAp73 is a central transcriptional regulator of airway multiciliogenesis
  publication-title: Genes Dev.
  doi: 10.1101/gad.279836.116
  contributor:
    fullname: Nemajerova
– volume: 13
  start-page: e1006538
  year: 2017
  ident: 10.1016/j.ajhg.2021.05.002_bib30
  article-title: Rfx2 Stabilizes Foxj1 Binding at Chromatin Loops to Enable Multiciliated Cell Gene Expression
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1006538
  contributor:
    fullname: Quigley
– volume: 2
  start-page: 371
  year: 2004
  ident: 10.1016/j.ajhg.2021.05.002_bib3
  article-title: p63 and p73: roles in development and tumor formation
  publication-title: Mol. Cancer Res.
  doi: 10.1158/1541-7786.371.2.7
  contributor:
    fullname: Moll
– volume: 91
  start-page: 672
  year: 2012
  ident: 10.1016/j.ajhg.2021.05.002_bib9
  article-title: Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2012.08.016
  contributor:
    fullname: Olbrich
– volume: 14
  start-page: 2289
  year: 2016
  ident: 10.1016/j.ajhg.2021.05.002_bib6
  article-title: p73 Is Required for Multiciliogenesis and Regulates the Foxj1-Associated Gene Network
  publication-title: Cell Rep.
  doi: 10.1016/j.celrep.2016.02.035
  contributor:
    fullname: Marshall
– volume: 138
  start-page: 1441
  year: 2010
  ident: 10.1016/j.ajhg.2021.05.002_bib14
  article-title: Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia
  publication-title: Chest
  doi: 10.1378/chest.10-0175
  contributor:
    fullname: Hirst
– volume: 117
  start-page: 1321
  year: 1993
  ident: 10.1016/j.ajhg.2021.05.002_bib26
  article-title: P73-Deficient mice have neurological, Pheromonal and Inflammatory Defects but lack spontaneous tumours
  publication-title: Development
  contributor:
    fullname: Yang
– volume: 43
  start-page: 139
  year: 2011
  ident: 10.1016/j.ajhg.2021.05.002_bib25
  article-title: p73: a multifunctional protein in neurobiology
  publication-title: Mol. Neurobiol.
  doi: 10.1007/s12035-011-8172-6
  contributor:
    fullname: Killick
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Snippet TP73 belongs to the TP53 family of transcription factors and has therefore been well studied in cancer research. Studies in mice, however, have revealed...
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StartPage 1318
SubjectTerms 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
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  priority: 102
  providerName: Elsevier
Title Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
URI https://dx.doi.org/10.1016/j.ajhg.2021.05.002
https://www.ncbi.nlm.nih.gov/pubmed/34077761
https://search.proquest.com/docview/2536801092
https://pubmed.ncbi.nlm.nih.gov/PMC8322810
Volume 108
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