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

被引：248

作者：

Dauwerse, Johannes G. ^{[1
]}

Dixon, Jill ^{[2
]}

Seland, Saskia ^{[3
]}

Ruivenkamp, Claudia A. L. ^{[1
]}

van Haeringen, Arie ^{[1
]}

Hoefsloot, Lies H. ^{[4
]}

Peters, Dorien J. M. ^{[1
]}

Boers, Agnes Clement-de ^{[5
]}

Daumer-Haas, Cornelia ^{[6
]}

Maiwald, Robert ^{[7
]}

Zweier, Christiane ^{[8
]}

Kerr, Bronwyn ^{[2
]}

Cobo, Ana M. ^{[9
]}

Toral, Joaquin F. ^{[10
]}

Hoogeboom, A. Jeannette M. ^{[11
]}

Lohmann, Dietmar R. ^{[3
]}

Hehr, Ute ^{[12
]}

Dixon, Michael J. ^{[2
,13
]}

Breuning, Martijn H. ^{[1
]}

Wieczorek, Dagmar ^{[3
]}

机构：

[1] Leiden Univ Med Ctr, Ctr Human & Clin Genet, Leiden, Netherlands

[2] Univ Manchester, Manchester Acad Hlth Sci Ctr, Fac Med & Human Sci, Manchester, Lancs, England

[3] Univ Klinikum Essen, Inst Humangenet, Essen, Germany

[4] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[5] Med Ctr Haaglanden, Dept Pediat, The Hague, Netherlands

[6] Praenatal Med Munchen, Munich, Germany

[7] Med Versorgungszentrum Lab Med Mikrobiol & Humang, Monchengladbach, Germany

[8] Univ Erlangen Nurnberg, Inst Human Genet, D-8520 Erlangen, Germany

[9] Hop Marin, AP HP, Ctr Reference Neuromusculaire, Hendaye, France

[10] Hosp Univ Cent Asturias, Oviedo, Spain

[11] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[12] Univ Klinikum Regensburg, Zentrum Humangenet, Regensburg, Germany

[13] Univ Manchester, Fac Life Sci, Manchester, Lancs, England

来源：

NATURE GENETICS | 2011年 / 43卷 / 01期

基金：

美国国家卫生研究院;

关键词：

YEAST; REVEALS; TCOF1;

D O I：

10.1038/ng.724

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：20 / 22

页数：3

共 16 条

[1] Modeling stochastic gene expression: Implications for haploinsufficiency [J].

Cook, DL ;

Gerber, LN ;

Tapscott, SJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (26) :15641-15646

[2]

Dixon J, 1996, NAT GENET, V12, P130

[3] Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities [J].

Dixon, Jill ;

Jones, Natalie C. ;

Sandell, Lisa L. ;

Jayasinghe, Sachintha M. ;

Crane, Jennifer ;

Rey, Jean-Philippe ;

Dixon, Michael J. ;

Trainor, Paul A. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (36) :13403-13408

[4]

Edwards SJ, 1997, AM J HUM GENET, V60, P515

[5] LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach [J].

Fokkema, IFAC ;

den Dunnen, JT ;

Taschner, PEM .

HUMAN MUTATION, 2005, 26 (02) :63-68

[6] Reconstitution of yeast and Arabidopsis RNA polymerase alpha-like subunit heterodimers [J].

Larkin, RM ;

Guilfoyle, TJ .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (19) :12824-12830

[7] Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF [J].

Lin, Chen-I ;

Yeh, Ning-Hsing .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2009, 386 (02) :396-401

[8] MANDIBULOFACIAL DYSOSTOSIS IN HUTTERITE SIBS - A POSSIBLE RECESSIVE TRAIT [J].

LOWRY, RB ;

MORGAN, K ;

HOLMES, TM ;

METCALF, PJ ;

STAUFFER, GF .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 22 (03) :501-512

[9] RPC40, A UNIQUE GENE FOR A SUBUNIT SHARED BETWEEN YEAST RNA POLYMERASE-A AND POLYMERASE-C [J].

MANN, C ;

BUHLER, JM ;

TREICH, I ;

SENTENAC, A .

CELL, 1987, 48 (04) :627-637

[10]

MARRES HAM, 1995, ARCH OTOLARYNGOL, V121, P509

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