Mutations in the pre-replication complex cause Meier-Gorlin syndrome

被引：189

作者：

Bicknell, Louise S. ^{[1
]}

Bongers, Ernie M. H. F. ^{[2
]}

Leitch, Andrea ^{[1
]}

Brown, Stephen ^{[1
]}

Schoots, Jeroen ^{[2
]}

Harley, Margaret E. ^{[1
]}

Aftimos, Salim ^{[3
]}

Al-Aama, Jumana Y. ^{[4
,5
]}

Bober, Michael ^{[6
]}

Brown, Paul A. J. ^{[7
]}

van Bokhoven, Hans ^{[8
,9
]}

Dean, John ^{[10
]}

Edrees, Alaa Y. ^{[5
]}

Feingold, Murray ^{[11
]}

Fryer, Alan ^{[12
]}

Hoefsloot, Lies H. ^{[2
]}

Kau, Nikolaus ^{[13
]}

Knoers, Nine V. A. M. ^{[14
]}

MacKenzie, James ^{[7
]}

Opitz, John M. ^{[15
]}

Sarda, Pierre ^{[16
]}

Ross, Alison ^{[10
]}

Temple, I. Karen ^{[17
]}

Toutain, Annick ^{[18
]}

Wise, Carol A. ^{[19
]}

Wright, Michael ^{[20
]}

Jackson, Andrew P. ^{[1
]}

机构：

[1] Western Gen Hosp, MRC, HGU, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Inst Genet & Metab Dis, NL-6525 ED Nijmegen, Netherlands

[3] Auckland Hosp, No Reg Genet Serv, Auckland, New Zealand

[4] King Abdulaziz Univ, Dept Genet Med, Fac Med, Jeddah 21413, Saudi Arabia

[5] King Abdulaziz Univ, Princess Al Jawhara Ctr Excellence Res Hereditary, Jeddah 21413, Saudi Arabia

[6] Alfred I DuPont Hosp Children, Div Genet, Dept Pediat, Wilmington, DE USA

[7] Aberdeen Royal Infirm, Dept Pathol, Aberdeen, Scotland

[8] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands

[9] Radboud Univ Nijmegen, Inst Genet & Metab Dis, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[10] Dept Clin Genet, Aberdeen, Scotland

[11] Natl Birth Defects Ctr, Waltham, MA USA

[12] Royal Liverpool Childrens Hosp, Dept Clin Genet, Liverpool L7 7DG, Merseyside, England

[13] Aberdeen Matern Hosp, Aberdeen, Scotland

[14] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[15] Univ Utah, Salt Lake City, UT USA

[16] Ctr Hosp Reg Univ Montpellier, Hop Arnaud Villeneuve, Serv Genet Med, Ctr Reference Anomalies Dev, F-34059 Montpellier, France

[17] Univ Southampton, Southampton Gen Hosp, Div Human Genet, Fac Med, Southampton, Hants, England

[18] Hop Bretonneau, Serv Genet, Tours, France

[19] Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USA

[20] Newcastle Upon Tyne Hosp Natl Hlth Serv Trust, No Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England

来源：

NATURE GENETICS | 2011年 / 43卷 / 04期

关键词：

ORIGIN RECOGNITION COMPLEX; SECKEL-SYNDROME; DNA-REPLICATION; ATP;

D O I：

10.1038/ng.775

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears(1-3). Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.

引用

页码：356 / +

页数：5

共 19 条

[1] Novel CENPJ mutation causes Seckel syndrome [J].

Al-Dosari, Mohammed S. ;

Shaheen, Ranad ;

Colak, Dilek ;

Alkuraya, Fowzan S. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (06) :411-414

[2] Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome [J].

Bicknell, Louise S. ;

Walker, Sarah ;

Klingseisen, Anna ;

Stiff, Tom ;

Leitch, Andrea ;

Kerzendorfer, Claudia ;

Martin, Carol-Anne ;

Yeyati, Patricia ;

Al Sanna, Nouriya ;

Bober, Michael ;

Johnson, Diana ;

Wise, Carol ;

Jackson, Andrew P. ;

O'Driscoll, Mark ;

Jeggo, Penny A. .

NATURE GENETICS, 2011, 43 (04) :350-U103

[3] Meier-Gorlin syndrome: Report of eight additional cases and review [J].

Bongers, EMHF ;

Opitz, JM ;

Fryer, A ;

Sarda, P ;

Hennekam, RCM ;

Hall, BD ;

Superneau, DW ;

Harbison, M ;

Poss, A ;

van Bokhoven, H ;

Hamel, BCJ ;

Knoers, NVAM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (02) :115-124

[4] ATP hydrolysis by ORC catalyzes reiterative Mcm2-7 assembly at a defined origin of replication [J].

Bowers, JL ;

Randell, JCW ;

Chen, SY ;

Bell, SP .

MOLECULAR CELL, 2004, 16 (06) :967-978

[5] Orc6 is required for dynamic recruitment of Cdt1 during repeated Mcm2-7 loading [J].

Chen, Shuyan ;

de Vries, Milan A. ;

Bell, Stephen P. .

GENES & DEVELOPMENT, 2007, 21 (22) :2897-2907

[6]

Gorlin R J, 1975, Birth Defects Orig Artic Ser, V11, P39

[7] Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [J].

Griffith, Elen ;

Walker, Sarah ;

Martin, Carol-Anne ;

Vagnarelli, Paola ;

Stiff, Tom ;

Vernay, Bertrand ;

Al Sanna, Nouriya ;

Saggar, Anand ;

Hamel, Ben ;

Earnshaw, William C. ;

Jeggo, Penny A. ;

Jackson, Andrew P. ;

O'Driscoll, Mark .

NATURE GENETICS, 2008, 40 (02) :232-236

[8] Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome [J].

Guernsey, Duane L. ;

Matsuoka, Makoto ;

Jiang, Haiyan ;

Evans, Susan ;

Macgillivray, Christine ;

Nightingale, Mathew ;

Perry, Scott ;

Ferguson, Meghan ;

LeBlanc, Marissa ;

Paquette, Jean ;

Patry, Lysanne ;

Rideout, Andrea L. ;

Thomas, Aidan ;

Orr, Andrew ;

McMaster, Chris R. ;

Michaud, Jacques L. ;

Deal, Cheri ;

Langlois, Sylvie ;

Superneau, Duane W. ;

Parkash, Sandhya ;

Ludman, Mark ;

Skidmore, David L. ;

Samuels, Mark E. .

NATURE GENETICS, 2011, 43 (04) :360-U157

[9] The Cdc6 nucleotide-binding site regulates its activity in DNA replication in human cells [J].

Herbig, U ;

Marlar, CA ;

Fanning, E .

MOLECULAR BIOLOGY OF THE CELL, 1999, 10 (08) :2631-2645

[10] Structure and Mutagenesis Studies of the C-terminal Region of Licensing Factor Cdt1 Enable the Identification of Key Residues for Binding to Replicative Helicase Mcm Proteins [J].

Jee, JunGoo ;

Mizuno, Takeshi ;

Kamada, Katsuhiko ;

Tochio, Hidehito ;

Chiba, Yasumasa ;

Yanagi, Ken-ichiro ;

Yasuda, Gentaro ;

Hiroaki, Hidekazu ;

Hanaoka, Fumio ;

Shirakawa, Masahiro .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (21) :15931-15940

← 1 2 →