A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Nishimura, Darryl; Searby, Charles; Alward, Wallace L.M.; Walton, David S.; Craig, Jamie E; Mackey, David A.; Kawase, Kazuhide; Kanis, Adam B.; Patil, Shivanand R.; Stone, Edwin M.; Sheffield, Val C.

doi:10.1086/318183

Cited by 184 publications

(131 citation statements)

References 22 publications

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“…These doses had no effect on the vegetal, endoderm-precursor explants, or on animal caps, which form epidermis in culture. In studies on FoxC1 function in zebrafish somitogenesis, similar sensitivity to RNA rescuing dose was noted , while in humans, ocular abnormalities occur when FoxC1 gene expression is elevated or reduced (Nishimura et al, 2001;Lehmann et al, 2002). The related protein Foxi1E is ectodermally localized and is also involved in the maintenance of tissue organization in Xenopus.…”

Section: Discussionmentioning

confidence: 88%

The role of FoxC1 in early Xenopus development

Birsoy

Kofron

et al. 2007

Developmental Dynamics

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FoxC1 is an important transcription factor in vertebrate development since its mutation in humans results in Axenfeld-Rieger syndrome. In the mouse, disturbance of its function causes congenital hydrocephalus and abnormalities in the development of various mesodermal derivatives. In this report, we provide one mechanistic basis for the requirement for FoxC1 in vertebrate development. We find that, in Xenopus laevis embryos, FoxC1 expression is regulated by the maternal T-box transcription factor VegT, via the nodal sub-family of TGF␤ signaling transducers. We show that at the late neurula to early tailbud stage, FoxC1 depletion causes the down-regulation of adhesion molecules, EP and E cadherin, as well as members of the Ephrin/EphR signaling families in the mesoderm germ layer resulting in the loss of adhesion and apoptosis of mesodermal cells. Developmental Dynamics 236:2731-2741, 2007.

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Section: Discussionmentioning

confidence: 88%

The role of FoxC1 in early Xenopus development

Birsoy

Kofron

et al. 2007

Developmental Dynamics

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“…This group of genes have turned out to play an important role in embryonic development of different tissues and the establishment of the body axis and midline structures. 6,7 A correct gene dosage of FOXgenes seems important for embryologic development 8,9 and mutations in FOX-genes have been found in human developmental disorders such as FOXE1 (thyroid agenesis, cleft palate and choanal atresia 10 ), FOXC2 (hereditary lymphoedema-distichiasis syndrome 11 ) and FOXL2 (BPES 12 ).…”

Section: Discussionmentioning

confidence: 99%

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

et al. 2003

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Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, congenital heart malformations, ocular abnormalities, hearing loss and a characteristic facial appearance. We report a patient with a submicroscopic 6p deletion, detected by subtelomeric screening using fluorescence in situ hybridisation. This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment. However, her cognitive functions were within the normal range. Detailed FISH analysis with 20 BAC probes covering the distal 6p25 region estimated the size of the terminal deletion to 2.1 Mb, and thus this case narrows down the critical region for the 6p phenotype. The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function.

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“…For some FOX proteins it appears that the amount of functional protein (dosage) has an important influence on particular aspects of development [22,38]. For example, it has been shown that alteration of FOXC1 dosage has dramatic effects on the development of the eye [38].…”

Section: Box 3 Fox Transcription Factors: Regulating Complexitymentioning

confidence: 99%

FOXP2 in focus: what can genes tell us about speech and language?

Marcus

Fisher

2003

Trends in Cognitive Sciences

171

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The human capacity for acquiring speech and language must derive, at least in part, from the genome. In 2001, a study described the first case of a gene, FOXP2, which is thought to be implicated in our ability to acquire spoken language. In the present article, we discuss how this gene was discovered, what it might do, how it relates to other genes, and what it could tell us about the nature of speech and language development. We explain how FOXP2 could, without being specific to the brain or to our own species, still provide an invaluable entry-point into understanding the genetic cascades and neural pathways that contribute to our capacity for speech and language.

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A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Cited by 184 publications

References 22 publications

The role of FoxC1 in early Xenopus development

The role of FoxC1 in early Xenopus development

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

FOXP2 in focus: what can genes tell us about speech and language?

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