Literature DB >> 21131976

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Johannes G Dauwerse1, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald, Christiane Zweier, Bronwyn Kerr, Ana M Cobo, Joaquín F Toral, A Jeannette M Hoogeboom, Dietmar R Lohmann, Ute Hehr, Michael J Dixon, Martijn H Breuning, Dagmar Wieczorek.   

Abstract

We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 21131976     DOI： 10.1038/ng.724

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Reconstitution of yeast and Arabidopsis RNA polymerase alpha-like subunit heterodimers.

Authors:  R M Larkin; T J Guilfoyle
Journal:  J Biol Chem       Date:  1997-05-09       Impact factor: 5.157

2.  Modeling stochastic gene expression: implications for haploinsufficiency.

Authors:  D L Cook; A N Gerber; S J Tapscott
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

3.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

4.  Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.

Authors:  R B Lowry; K Morgan; T M Holmes; P J Metcalf; G F Stauffer
Journal:  Am J Med Genet       Date:  1985-11

5.  LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Authors:  Ivo F A C Fokkema; Johan T den Dunnen; Peter E M Taschner
Journal:  Hum Mutat       Date:  2005-08       Impact factor: 4.878

Review 6.  High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Authors:  A Splendore; E O Silva; L G Alonso; A Richieri-Costa; N Alonso; A Rosa; G Carakushanky; D P Cavalcanti; D Brunoni; M R Passos-Bueno
Journal:  Hum Mutat       Date:  2000-10       Impact factor: 4.878

7.  Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III.

Authors:  Y Yao; K Yamamoto; Y Nishi; Y Nogi; M Muramatsu
Journal:  J Biol Chem       Date:  1996-12-20       Impact factor: 5.157

8.  Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Authors:  Ozge Altug Teber; Gabriele Gillessen-Kaesbach; Sven Fischer; Stefan Böhringer; Beate Albrecht; Angelika Albert; Mine Arslan-Kirchner; Eric Haan; Monika Hagedorn-Greiwe; Christof Hammans; Wolfram Henn; Georg Klaus Hinkel; Rainer König; Erdmute Kunstmann; Jürgen Kunze; Luitgard M Neumann; Eva-Christina Prott; Anita Rauch; Hans-Dieter Rott; Heide Seidel; Stephanie Spranger; Martin Sprengel; Barbara Zoll; Dietmar R Lohmann; Dagmar Wieczorek
Journal:  Eur J Hum Genet       Date:  2004-11       Impact factor: 4.246

9.  Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.

Authors:  Chen-I Lin; Ning-Hsing Yeh
Journal:  Biochem Biophys Res Commun       Date:  2009-06-13       Impact factor: 3.575

10.  Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.

Authors:  Jill Dixon; Natalie C Jones; Lisa L Sandell; Sachintha M Jayasinghe; Jennifer Crane; Jean-Philippe Rey; Michael J Dixon; Paul A Trainor
Journal:  Proc Natl Acad Sci U S A       Date:  2006-08-28       Impact factor: 11.205
View more
  116 in total

1.  Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Authors:  Matthew A Lines; Lijia Huang; Jeremy Schwartzentruber; Stuart L Douglas; Danielle C Lynch; Chandree Beaulieu; Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Blanca Gener; Gabriele Gillessen-Kaesbach; Caroline Nava; Geneviève Baujat; Denise Horn; Usha Kini; Almuth Caliebe; Yasemin Alanay; Gulen Eda Utine; Dorit Lev; Jürgen Kohlhase; Arthur W Grix; Dietmar R Lohmann; Ute Hehr; Detlef Böhm; Jacek Majewski; Dennis E Bulman; Dagmar Wieczorek; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

Review 2.  Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.

Authors:  Jan-Ulrich Schlump; Anja Stein; Ute Hehr; Tanja Karen; Claudia Möller-Hartmann; Nursel H Elcioglu; Nadja Bogdanova; Hartmut Fritz Woike; Dietmar R Lohmann; Ursula Felderhoff-Mueser; Annette Linz; Dagmar Wieczorek
Journal:  Eur J Pediatr       Date:  2012-06-23       Impact factor: 3.183

3.  The PLATZ Transcription Factor GL6 Affects Grain Length and Number in Rice.

Authors:  Ahong Wang; Qingqing Hou; Lizhen Si; Xuehui Huang; Jianghong Luo; Danfeng Lu; Jingjie Zhu; Yingying Shangguan; Jiashun Miao; Yifan Xie; Yongchun Wang; Qiang Zhao; Qi Feng; Congcong Zhou; Yan Li; Danlin Fan; Yiqi Lu; Qilin Tian; Zixuan Wang; Bin Han
Journal:  Plant Physiol       Date:  2019-05-28       Impact factor: 8.340

4.  Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Authors:  Michael Bowman; Michael Oldridge; Caroline Archer; Anthony O'Rourke; Joanna McParland; Roel Brekelmans; Anneke Seller; Tracy Lester
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

Review 5.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 6.  Genetics and signaling mechanisms of orofacial clefts.

Authors:  Kurt Reynolds; Shuwen Zhang; Bo Sun; Michael A Garland; Yu Ji; Chengji J Zhou
Journal:  Birth Defects Res       Date:  2020-07-15       Impact factor: 2.344

7.  tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type.

Authors:  Kristin E N Watt; Cynthia L Neben; Shawn Hall; Amy E Merrill; Paul A Trainor
Journal:  Hum Mol Genet       Date:  2018-08-01       Impact factor: 6.150

Review 8.  Ribosomopathies: Old Concepts, New Controversies.

Authors:  Katherine I Farley-Barnes; Lisa M Ogawa; Susan J Baserga
Journal:  Trends Genet       Date:  2019-07-31       Impact factor: 11.639

Review 9.  Probing the mechanisms underlying human diseases in making ribosomes.

Authors:  Katherine I Farley; Susan J Baserga
Journal:  Biochem Soc Trans       Date:  2016-08-15       Impact factor: 5.407

Review 10.  Dysregulation of the basal RNA polymerase transcription apparatus in cancer.

Authors:  Megan J Bywater; Richard B Pearson; Grant A McArthur; Ross D Hannan
Journal:  Nat Rev Cancer       Date:  2013-05       Impact factor: 60.716
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.