Novel anterior segment phenotypes resulting from forkhead gene alterations: Evidence for cross-species conservation of function

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Novel anterior segment phenotypes resulting from forkhead gene alterations: Evidence for cross-species conservation of function

Lehmann, O. J. (author)

Tuft, S. (author)

Brice, G. (author)

Smith, R. (author)

Blixt, Åsa, 1960 (author): Gothenburg University,Göteborgs universitet,Institutionen för cell- och molekylärbiologi,Department of Cell and Molecular Biology

Bell, R. (author)

Johansson, Bengt (author): Gothenburg University,Göteborgs universitet,Institutionen för anatomi och cellbiologi,Institute of Anatomy and Cell Biology

Jordan, T. (author)

Hitchings, R. A. (author)

Khaw, P. T. (author)

John, S. W. M. (author)

Carlsson, Peter, 1959 (author): Gothenburg University,Göteborgs universitet,Institutionen för cell- och molekylärbiologi,Department of Cell and Molecular Biology

Battacharya, S. S. (author)

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Association for Research in Vision and Ophthalmology (ARVO), 2003
2003
English.
In: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 44:6, s. 2627-2633

Related links:: https://gup.ub.gu.se...; show more...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

PURPOSE. Mutations in murine and human Versions of an ancestrally related gene usually result in similar phenotypes. However, interspecics differences exist, and in the case of two forkhead transcription factor genes (FOXC1 and FOXC2), these differences include corneal or anterior segment phenotypes, respectively. This study was undertaken to determine whether such discrepancies provide an opportunity for identifying novel human-murine ocular phenotypes. METHODS. Four pedigrees with early-onset glaucoma phenotypes secondary to segmental chromosomal duplications or deletions encompassing FOXC1 and 18 individuals from 9 FOXC2 mutation pedigrees underwent detailed ocular phenotyping. Subsequently, mice with mutations in Foxc1 or a related forkhead gene, Foxe3, were assessed for features of the human phenotypes. RESULTS. A significant increase in central corneal thickness was present in affected individuals from the segmental duplication pedigrees compared with their unaffected relatives (mean increase 13%, maximum 35%, P < 0.05). Alterations in corneal thickness were present in mice heterozygous and homozygous for Foxe3 mutations but neither in Foxc1 heterozygotes nor the small human segmental deletion pedigree. Mutations in FOXC2 resulted in ocular anterior segment anomalies. These were more severe and prevalent with mutations involving the forkhead domain. CONCLUSIONS. Normal corneal development is dependent on the precise dose and levels of activity of certain forkhead transcription factors. The altered corneal thickness attributable to increased forkhead gene dosage is particularly important, because it may affect the clinical management of certain glaucoma subtypes and lead to excessive treatment. The FOXC1 and Foxe3 data, taken together with the novel ocular phenotypes of FOXC2 mutations, highlight the remarkable cross-species conservation of function among forkhead genes.

Subject headings

NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)

Keyword

helix transcription factors
mutation congenital hydrocephalus
lymphedema-distichiasis syndrome
cardiovascular development
corneal thickness
foxc2 mutations
glaucoma
mf1
foxe3
expression

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ref (subject category)
art (subject category)

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By the author/editor: Lehmann, O. J.; Tuft, S.; Brice, G.; Smith, R.; Blixt, Åsa, 1960; Bell, R.; show more...; Johansson, Bengt; Jordan, T.; Hitchings, R. A.; Khaw, P. T.; John, S. W. M.; Carlsson, Peter, ...; Battacharya, S. ...; show less...

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NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Biochemistry and ...

Articles in the publication: Investigative Op ...

By the university: University of Gothenburg

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