Dauwerse, Johannes G. and Dixon, Jill and Seland, Saskia and Ruivenkamp, Claudia A. L. and van Haeringen, Arie and Hoefsloot, Lies H. and Peters, Dorien J. M. and Boers, Agnes Clement-de and Daumer-Haas, Cornelia and Maiwald, Robert and Zweier, Christiane and Kerr, Bronwyn and Cobo, Ana M. and Toral, Joaquin F. and Hoogeboom, A. Jeannette M. and Lohmann, Dietmar R. and Hehr, Ute and Dixon, Michael J. and Breuning, Martijn H. and Wieczorek, Dagmar (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. NATURE GENETICS, 43 (1). pp. 20-22. ISSN 1061-4036,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | YEAST; REVEALS; TCOF1; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 01 Jul 2020 06:56 |
| Last Modified: | 01 Jul 2020 06:56 |
| URI: | https://pred.uni-regensburg.de/id/eprint/21630 |
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