The FaceBase Consortium: A comprehensive program to facilitate craniofacial research

被引：55

作者：

Hochheiser, Harry ^{[1
]}

Aronow, Bruce J. ^{[2
,3
]}

Artinger, Kristin ^{[4
]}

Beaty, Terri H. ^{[5
]}

Brinkley, James F. ^{[6
]}

Chai, Yang ^{[7
]}

Clouthier, David ^{[4
]}

Cunningham, Michael L. ^{[8
]}

Dixon, Michael ^{[9
,10
]}

Donahue, Leah Rae ^{[11
]}

Fraser, Scott E. ^{[12
]}

Hallgrimsson, Benedikt ^{[13
,14
]}

Iwata, Junichi ^{[7
]}

Klein, Ophir ^{[15
,16
]}

Marazita, Mary L. ^{[17
,18
,19
,20
]}

Murray, Jeffrey C. ^{[21
]}

Murray, Stephen ^{[11
]}

Pardo-Manuel de Villena, Fernando ^{[22
]}

Postlethwait, John ^{[23
]}

Potter, Steven

Shapiro, Linda ^{[6
]}

Spritz, Richard ^{[24
]}

Visel, Axel ^{[25
,26
]}

Weinberg, Seth M. ^{[17
]}

Trainor, Paul A. ^{[27
,28
]}

机构：

[1] Univ Pittsburgh, Dept Biomed Informat, Pittsburgh, PA 15232 USA

[2] Univ Cincinnati, Coll Med, Div Biomed Informat,Med Ctr, Ctr Computat Med,Cincinnati Childrens Hosp, Cincinnati, OH 45229 USA

[3] Univ Cincinnati, Coll Med, Div Dev Biol,Med Ctr, Ctr Computat Med,Cincinnati Childrens Hosp, Cincinnati, OH 45229 USA

[4] Univ Colorado, Dept Craniofacial Biol, Aurora, CO 80045 USA

[5] Johns Hopkins Univ, Dept Epidemiol, Baltimore, MD 21205 USA

[6] Univ Washington, Dept Comp Sci & Engn, Seattle, WA 98195 USA

[7] Univ So Calif, Ostrow Sch Dent, Ctr Craniofacial Mol Biol, Los Angeles, CA 90033 USA

[8] Seattle Childrens Hosp, Seattle, WA 98105 USA

[9] Univ Manchester, Fac Med & Human Sci, Manchester Acad Hlth Sci Ctr, Manchester M13 9PT, Lancs, England

[10] Univ Manchester, Fac Life Sci, Manchester M13 9PT, Lancs, England

[11] Jackson Lab, Bar Harbor, ME 04609 USA

[12] CALTECH, Biol Imaging Ctr Beckman Inst 133, Pasadena, CA 91125 USA

[13] Univ Calgary, Dept Cell Biol & Anat, Calgary, AB T2N 4N1, Canada

[14] Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB T2N 4N1, Canada

[15] Univ Calif San Francisco, Dept Orofacial Sci, San Francisco, CA 94143 USA

[16] Univ Calif San Francisco, Program Craniofacial & Mesenchymal Biol, San Francisco, CA 94143 USA

[17] Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15219 USA

[18] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15219 USA

[19] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA 15219 USA

[20] Univ Pittsburgh, Sch Med, Clin & Translat Sci Inst, Pittsburgh, PA 15219 USA

[21] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[22] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA

[23] Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA

[24] Univ Colorado, Human Med Genet Program, Sch Med, Aurora, CO 80045 USA

[25] Univ Calif Berkeley, Lawrence Berkeley Lab, Genom Div, Berkeley, CA 94720 USA

[26] US Dept Energy Joint Genome Inst, Walnut Creek, CA 94598 USA

[27] Stowers Inst Med Res, Kansas City, MO 64110 USA

[28] Univ Kansas, Dept Anat & Cell Biol, Med Ctr, Kansas City, KS 66160 USA

来源：

DEVELOPMENTAL BIOLOGY | 2011年 / 355卷 / 02期

关键词：

Craniofacial development; Cleft lip and palate; Human genetics; Animal models; Database; Morphometrics; HUMAN PHENOTYPE ONTOLOGY; CLEFT-PALATE; LIP; GROWTH; GENE; MICE; EXPRESSION; PALATOGENESIS; ENHANCERS; REVEALS;

D O I：

10.1016/j.ydbio.2011.02.033

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The FaceBase Consortium consists of ten interlinked research and technology projects whose goal is to generate craniofacial research data and technology for use by the research community through a central data management and integrated bioinformatics hub. Funded by the National Institute of Dental and Craniofacial Research (NIDCR) and currently focused on studying the development of the middle region of the face, the Consortium will produce comprehensive datasets of global gene expression patterns, regulatory elements and sequencing; will generate anatomical and molecular atlases; will provide human normative facial data and other phenotypes; conduct follow up studies of a completed genome-wide association study; generate independent data on the genetics of craniofacial development, build repositories of animal models and of human samples and data for community access and analysis: and will develop software tools and animal models for analyzing and functionally testing and integrating these data. The FaceBase website (http://www.facebase.org) will serve as a web home for these efforts, providing interactive tools for exploring these datasets, together with discussion forums and other services to support and foster collaboration within the craniofacial research community. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：175 / 182

页数：8

共 39 条

[1] A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 [J].

Beaty, Terri H. ;

Murray, Jeffrey C. ;

Marazita, Mary L. ;

Munger, Ronald G. ;

Ruczinski, Ingo ;

Hetmanski, Jacqueline B. ;

Liang, Kung Yee ;

Wu, Tao ;

Murray, Tanda ;

Fallin, M. Daniele ;

Redett, Richard A. ;

Raymond, Gerald ;

Schwender, Holger ;

Jin, Sheng-Chih ;

Cooper, Margaret E. ;

Dunnwald, Martine ;

Mansilla, Maria A. ;

Leslie, Elizabeth ;

Bullard, Stephen ;

Lidral, Andrew C. ;

Moreno, Lina M. ;

Menezes, Renato ;

Vieira, Alexandre R. ;

Petrin, Aline ;

Wilcox, Allen J. ;

Lie, Rolv T. ;

Jabs, Ethylin W. ;

Wu-Chou, Yah Huei ;

Chen, Philip K. ;

Wang, Hong ;

Ye, Xiaoqian ;

Huang, Shangzhi ;

Yeow, Vincent ;

Chong, Samuel S. ;

Jee, Sun Ha ;

Shi, Bing ;

Christensen, Kaare ;

Melbye, Mads ;

Doheny, Kimberly F. ;

Pugh, Elizabeth W. ;

Ling, Hua ;

Castilla, Eduardo E. ;

Czeizel, Andrew E. ;

Ma, Lian ;

Field, L. Leigh ;

Brody, Lawrence ;

Pangilinan, Faith ;

Mills, James L. ;

Molloy, Anne M. ;

Kirke, Peadar N. .

NATURE GENETICS, 2010, 42 (06) :525-U76

[2] Dicer is essential for mouse development [J].

Bernstein, E ;

Kim, SY ;

Carmell, MA ;

Murchison, EP ;

Alcorn, H ;

Li, MZ ;

Mills, AA ;

Elledge, SJ ;

Anderson, KV ;

Hannon, GJ .

NATURE GENETICS, 2003, 35 (03) :215-217

[3] Cancer risk in persons with oral cleft - A population-based study of 8,093 cases [J].

Bille, C ;

Winther, JF ;

Bautz, A ;

Murray, JC ;

Olsen, J ;

Christensen, K .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2005, 161 (11) :1047-1055

[4] Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 [J].

Birnbaum, Stefanie ;

Ludwig, Kerstin U. ;

Reutter, Heiko ;

Herms, Stefan ;

Steffens, Michael ;

Rubini, Michele ;

Baluardo, Carlotta ;

Ferrian, Melissa ;

de Assis, Nilma Almeida ;

Alblas, Margrieta A. ;

Barth, Sandra ;

Freudenberg, Jan ;

Lauster, Carola ;

Schmidt, Guel ;

Scheer, Martin ;

Braumann, Bert ;

Berge, Stefaan J. ;

Reich, Rudolf H. ;

Schiefke, Franziska ;

Hemprich, Alexander ;

Poetzsch, Simone ;

Steegers-Theunissen, Regine P. ;

Poetzsch, Bernd ;

Moebus, Susanne ;

Horsthemke, Bernhard ;

Kramer, Franz-Josef ;

Wienker, Thomas F. ;

Mossey, Peter A. ;

Propping, Peter ;

Cichon, Sven ;

Hoffmann, Per ;

Knapp, Michael ;

Noethen, Markus M. ;

Mangold, Elisabeth .

NATURE GENETICS, 2009, 41 (04) :473-477

[5] The Mouse Genome Database (MGD): mouse biology and model systems [J].

Bult, Carol J. ;

Eppig, Janan T. ;

Kadin, James A. ;

Richardson, Joel E. ;

Blake, Judith A. .

NUCLEIC ACIDS RESEARCH, 2008, 36 :D724-D728

[6] Formalization of mouse embryo anatomy [J].

Burger, A ;

Davidson, D ;

Baldock, R .

BIOINFORMATICS, 2004, 20 (02) :259-267

[7] Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene [J].

Bush, JO ;

Lan, Y ;

Maltby, KM ;

Jiang, RL .

DEVELOPMENTAL DYNAMICS, 2002, 225 (03) :322-326

[8]

Chau D.H., 2008, PROCEEDING 26 ANN SI, P999

[9] The Collaborative Cross, a community resource for the genetic analysis of complex traits [J].

Churchill, G ;

Airey, DC ;

Allayee, H ;

Angel, JM ;

Attie, AD ;

Beatty, J ;

Beavis, WD ;

Belknap, JK ;

Bennett, B ;

Berrettini, W ;

Bleich, A ;

Bogue, M ;

Broman, KW ;

Buck, KJ ;

Buckler, E ;

Burmeister, M ;

Chesler, EJ ;

Cheverud, JM ;

Clapcote, S ;

Cook, MN ;

Cox, RD ;

Crabbe, JC ;

Crusio, WE ;

Darvasi, A ;

Deschnepper, CF ;

Doerge, RW ;

Farber, CR ;

Forejt, J ;

Gaile, D ;

Garlow, SJ ;

Geiger, H ;

Gershenfeld, H ;

Gordon, T ;

Gu, J ;

Gu, WK ;

de Haan, G ;

Hayes, NL ;

Heller, C ;

Himmelbauer, H ;

Hitzemann, R ;

Hunter, K ;

Hsu, HC ;

Iraqi, FA ;

Ivandic, B ;

Jacob, HJ ;

Jansen, RC ;

Jjepsen, KJ ;

Johnson, DK ;

Johnson, TE ;

Kempermann, G .

NATURE GENETICS, 2004, 36 (11) :1133-1137

[10]

Conrad AL., 2009, Child Neuropsych, V2, P1

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