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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment
Investigative Ophthalmology and Visual Science, Volume 51, No. 9, Year 2010
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Description
PURPOSE. Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including aniridia and aphakia, a complex chromosomal rearrangement, inv(2)(p22.3q12.1)t(2; 16)(q12.1; q12.2), was characterized at the molecular level, to identify candidate genes implicated in ASOD. METHODS. After negative sequencing of the PAX6, FOXC1, and PITX2 genes, we used fluorescence in situ hybridization (FISH) and Southern blot analysis to characterize the chromosomal breakpoints. Candidate genes were selected, and in situ tissue expression analysis was performed on human fetuses and embryos. RESULTS. Molecular analyses showed that the 16q12.2 breakpoint in this rearrangement occurs in a 625-bp region centromeric to the IRX3 gene, which belongs to the IRXB cluster. In situ hybridization expression studies showed that during early human embryonic development, the IRX3 gene is expressed in the anterior segment of the eye. Of interest, it has been shown previously that a highly conserved noncoding region (HCNCR) is located 300 kb centromeric to the IRX3 gene and induces, in a murine transgenic assay, an expression pattern fitting that of the IRX3 gene. CONCLUSIONS. The authors propose that the 16q12.2 breakpoint of this complex translocation is causally related to the ocular anterior segment dysgenesis observed in this patient. This translocation is assumed to separate the HCNCR from the IRXB cluster genes, thus deregulating the IRXB cluster and leading to the ASOD observed by a positional effect. © Association for Research in Vision and Ophthalmology.
Authors & Co-Authors
Chaabouni, Myriam
France, Paris
Hôpital Necker Enfants Malades
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Etchevers, Heather C.
France, Toulouse
Hôpital Purpan
France, Paris
Hôpital Necker Enfants Malades
de Blois, Marie Christine
France, Paris
Hôpital Necker Enfants Malades
Calvas, Patrick
France, Toulouse
Hôpital Purpan
Waill-Perrier, Marie Christine
France, Paris
Hôpital Necker Enfants Malades
Vekemans, Michel J.J.
France, Paris
Hôpital Necker Enfants Malades
Romana, Serge Pierrick
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 7
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1167/iovs.09-4111
ISSN:
01460404
e-ISSN:
15525783
Research Areas
Genetics And Genomics
Health System And Policy