Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (57)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Lines, M. A.
Right arrow Articles by Walter, M. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Lines, M. A.
Right arrow Articles by Walter, M. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2002, Vol. 11, No. 10 1177-1187
© 2002 Oxford University Press

Molecular genetics of Axenfeld–Rieger malformations

Matthew A. Lines1, Kathy Kozlowski1 and Michael A. Walter1*

1Ocular Genetics Laboratory, Department of Ophthalmology, 8-32 Medical Sciences Building, University of Alberta, Edmonton, Canada T6G 2E1

Received February 15, 2002; Accepted February 22, 2002

Axenfeld–Rieger (AR) malformations are autosomal dominant developmental defects of the anterior segment of the eye, and often result in glaucomatous blindness. AR malformations are associated with mutations in two transcription factor genes (PITX2 and FOXC1) expressed throughout eye ontogeny. Studies of disease-associated mutant proteins have provided insights into the aetiology of AR malformations, while delineating residues and domains important to DNA binding, transactivation and nuclear localization. The availability of mouse models for both PITX2 and FOXC1 has allowed detailed study of their expression and mutant phenotypes. Dissection of the normal functions and domain structures of these factors will aid in future elucidation of how alterations of the developmental program produce the dysgenic phenotypes seen in AR. There are at least two AR loci still awaiting molecular cloning on chromosomes 13q14 and 16q24. Identification of further genes implicated in aberrations of human ocular development will advance our understanding of the mechanisms whereby pattern is established in the eye, and may be of clinical value in treating the glaucoma that is the most serious consequence of AR malformations.

* To whom correspondence should be addressed. Tel: +1 780 492 7557; Fax: +1 780 492 6934; Email: mwalter{at}ualberta.ca


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
O. Duverger, D. Lee, M. Q. Hassan, S. X. Chen, F. Jaisser, J. B. Lian, and M. I. Morasso
Molecular Consequences of a Frameshifted DLX3 Mutant Leading to Tricho-Dento-Osseous Syndrome
J. Biol. Chem., July 18, 2008; 283(29): 20198 - 20208.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
J. Weng, J. Luo, X. Cheng, C. Jin, X. Zhou, J. Qu, L. Tu, D. Ai, D. Li, J. Wang, et al.
Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2
PNAS, April 22, 2008; 105(16): 6081 - 6086.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. B. Berry, J. M. Skarie, F. Mirzayans, Y. Fortin, T. J. Hudson, V. Raymond, B. A. Link, and M. A. Walter
FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A
Hum. Mol. Genet., February 14, 2008; 17(4): 490 - 505.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
M. H. Strungaru, I. Dinu, and M. A. Walter
Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with FOXC1 and PITX2 Mutations
Invest. Ophthalmol. Vis. Sci., January 1, 2007; 48(1): 228 - 237.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
J. L. Wiggs
Genetic Etiologies of Glaucoma
Arch Ophthalmol, January 1, 2007; 125(1): 30 - 37.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
Y. A. Ito, T. K. Footz, T. C. Murphy, W. Courtens, and M. A. Walter
Analyses of a Novel L130F Missense Mutation in FOXC1
Arch Ophthalmol, January 1, 2007; 125(1): 128 - 135.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
D. Y. Wang, B. J. Fan, J. K. H. Chua, P. O. S. Tam, C. K. S. Leung, D. S. C. Lam, and C. P. Pang
A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open-Angle Glaucoma Locus to 15q
Invest. Ophthalmol. Vis. Sci., December 1, 2006; 47(12): 5315 - 5321.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Biol.Home page
J. Gerhart, J. Elder, C. Neely, J. Schure, T. Kvist, K. Knudsen, and M. George-Weinstein
MyoD-positive epiblast cells regulate skeletal muscle differentiation in the embryo
J. Cell Biol., October 23, 2006; 175(2): 283 - 292.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
A. G. Diehl, S. Zareparsi, M. Qian, R. Khanna, R. Angeles, and P. J. Gage
Extraocular Muscle Morphogenesis and Gene Expression Are Regulated by Pitx2 Gene Dose
Invest. Ophthalmol. Vis. Sci., May 1, 2006; 47(5): 1785 - 1793.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. B. Berry, M. A. Lines, J. M. Oas, T. Footz, D. A. Underhill, P. J. Gage, and M. A. Walter
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis
Hum. Mol. Genet., March 15, 2006; 15(6): 905 - 919.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
P. J. Gage, W. Rhoades, S. K. Prucka, and T. Hjalt
Fate Maps of Neural Crest and Mesoderm in the Mammalian Eye
Invest. Ophthalmol. Vis. Sci., November 1, 2005; 46(11): 4200 - 4208.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
T. Van Agtmael, U. Schlotzer-Schrehardt, L. McKie, D. G. Brownstein, A. W. Lee, S. H. Cross, Y. Sado, J. J. Mullins, E. Poschl, and I. J. Jackson
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
Hum. Mol. Genet., November 1, 2005; 14(21): 3161 - 3168.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
N. Matt, V. Dupe, J.-M. Garnier, C. Dennefeld, P. Chambon, M. Mark, and N. B. Ghyselinck
Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells
Development, November 1, 2005; 132(21): 4789 - 4800.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. B. Berry, Y. Tamimi, M. V. Carle, O. J. Lehmann, and M. A. Walter
The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis
Hum. Mol. Genet., September 15, 2005; 14(18): 2619 - 2627.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
F. B. Berry, M. A. O'Neill, M. Coca-Prados, and M. A. Walter
FOXC1 Transcriptional Regulatory Activity Is Impaired by PBX1 in a Filamin A-Mediated Manner
Mol. Cell. Biol., February 15, 2005; 25(4): 1415 - 1424.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
R. Toro, I. Saadi, A. Kuburas, M. Nemer, and A. F. Russo
Cell-specific Activation of the Atrial Natriuretic Factor Promoter by PITX2 and MEF2A
J. Biol. Chem., December 10, 2004; 279(50): 52087 - 52094.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
K Xia, L Wu, X Liu, X Xi, D Liang, D Zheng, F Cai, Q Pan, Z Long, H Dai, et al.
Mutation in PITX2 is associated with ring dermoid of the cornea
J. Med. Genet., December 1, 2004; 41(12): e129 - e129.
[Full Text] [PDF]

Home page
 IOVSHome page
Y. Tamimi, M. Lines, M. Coca-Prados, and M. A. Walter
Identification of Target Genes Regulated by FOXC1 Using Nickel Agarose-Based Chromatin Enrichment
Invest. Ophthalmol. Vis. Sci., November 1, 2004; 45(11): 3904 - 3913.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
J. Holmberg, C.-Y. Liu, and T. A. Hjalt
PITX2 Gain-of-Function in Rieger Syndrome Eye Model
Am. J. Pathol., November 1, 2004; 165(5): 1633 - 1641.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
B Pal, M D Mohamed, T J Keen, G A Williams, J A Bradbury, E Sheridan, and C F Inglehearn
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.
J. Med. Genet., October 1, 2004; 41(10): 772 - 777.
[Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Utriainen, R. Sormunen, M. Kettunen, L. S. Carvalhaes, E. Sajanti, L. Eklund, R. Kauppinen, G. T. Kitten, and T. Pihlajaniemi
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line
Hum. Mol. Genet., September 15, 2004; 13(18): 2089 - 2099.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
R. A. Saleem, S. Banerjee-Basu, T. C. Murphy, A. Baxevanis, and M. A. Walter
Essential structural and functional determinants within the forkhead domain of FOXC1
Nucleic Acids Res., August 6, 2004; 32(14): 4182 - 4193.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
R. A. Saleem, S. Banerjee-Basu, F. B. Berry, A. D. Baxevanis, and M. A. Walter
Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1
Hum. Mol. Genet., November 15, 2003; 12(22): 2993 - 3005.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
R. A. Saleem, T. C. Murphy, J. M. Liebmann, and M. A. Walter
Identification and Analysis of a Novel Mutation in the FOXC1 Forkhead Domain
Invest. Ophthalmol. Vis. Sci., November 1, 2003; 44(11): 4608 - 4612.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.