Modulations of Cellular Interactions During Development of the Neural Crest: Role of Growth Factors and Adhesion Molecules

Duband, Jean‐Loup; Delannet, Muriel; Monier, F; Garret, S.; Desban, Nathalie

doi:10.1007/978-3-642-80057-3_17

Cited by 3 publications

(5 citation statements)

References 80 publications

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Section: Discussionmentioning

confidence: 99%

“…46 These neural crest cells undergo EMT and migrate to developing tissues, including the anterior segment, where they differentiate to form the corneal endothelial monolayer by the eighth week of gestation. 47,48 Publically available RNA-seq data derived from 16-to 18-week-old human fetal corneal endothelial samples are also negative for OVOL2 expression. 34 We have demonstrated that the mutations identified in the OVOL2 promoter dysregulate OVOL2 expression, and we suggest that this will affect the function of downstream genes and pathways, including potential transcriptional regulation of the PPCD3-associated gene ZEB1.…”

Section: Discussionmentioning

confidence: 99%

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Davidson

Lišková

Evans

et al. 2016

The American Journal of Human Genetics

101

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Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20. We combined genetic and genomic approaches to identify the cause of disease in extensive pedigrees comprising over 100 affected individuals. After exclusion of pathogenic coding, splice-site, and copy-number variations, a parallel approach using targeted and whole-genome sequencing facilitated the identification of pathogenic variants in a conserved region of the OVOL2 proximal promoter sequence in the index families (c.-339_361dup for CHED1 and c.-370T>C for PPCD1). Direct sequencing of the OVOL2 promoter in other unrelated affected individuals identified two additional mutations within the conserved proximal promoter sequence (c.-274T>G and c.-307T>C). OVOL2 encodes ovo-like zinc finger 2, a C2H2 zinc-finger transcription factor that regulates mesenchymal-to-epithelial transition and acts as a direct transcriptional repressor of the established PPCD-associated gene ZEB1. Interestingly, we did not detect OVOL2 expression in the normal corneal endothelium. Our in vitro data demonstrate that all four mutated OVOL2 promoters exhibited more transcriptional activity than the corresponding wild-type promoter, and we postulate that the mutations identified create cryptic cis-acting regulatory sequence binding sites that drive aberrant OVOL2 expression during endothelial cell development. Our data establish CHED1 and PPCD1 as allelic conditions and show that CHED1 represents the extreme of what can be considered a disease spectrum. They also implicate transcriptional dysregulation of OVOL2 as a common cause of dominantly inherited corneal endothelial dystrophies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Davidson

Lišková

Evans

et al. 2016

The American Journal of Human Genetics

101

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“…Astroglial cell migration along the perivascular extracellular matrix in the CNS has been described [22]. Type I collagen is known to play a role in the ligandreceptor interactions of neuronal migration [10,23], and it has been postulated that it acts as a guide for process outgrowth during neuronal migration [10,16]. Whatever type I collagen's role in neuronal migration, one can expect altered function when type I collagen is altered in structure or expression, as is known in OI [3].…”

Section: Discussionmentioning

confidence: 99%

“…Neurodevelopmental alterations in skeletal disorders are not unique to OI type II. Thanatophoric dwarfism (TD), also called thanatophoric dysplasia, is a perinatally lethal condition characterized by failure of chondrogenesis and cartilage conversion to bone [10] that has recently been shown to be the result of mutation in the fibroblast growth factor receptor-3 (FGFR-3) [25]. Interestingly, TD has been associated with hippocampal malrotation as well as other CNS developmental anomalies [26].…”

Section: Discussionmentioning

confidence: 99%

“…Immunocytochemical localization of type I collagen in the normal brain parenchyma shows small amounts near larger vessels and trace amounts around smaller vessels, with no detectable amount in capillaries [5,9]. Since collagen type I is known to promote neuron migration in vitro [10,11] and is a standard substrate for neuron cultures [11][12][13], we were interested in investigating whether more severe migrational defects occur in OI type II. For this purpose, a retrospective study of CNS development in 17 OI type I, II, and III cases examined postmortem was performed, with special emphasis placed on neuropathological findings in relation to OI subtype.…”

Section: Introductionmentioning

confidence: 99%

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Abnormalities in Central Nervous System Development in Osteogenesis Imperfecta Type II

et al. 1999

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Osteogenesis imperfecta (OI) type II is a perinatally lethal condition resulting from mutations in type I collagen genes. In addition to characteristic skeletal anomalies, OI type II has recently been shown to be associated with neuropathological alterations, specifically perivenous microcalcifications, and impaired neuroblast migration. In light of these findings, and because type I collagen promotes neuritic maturation both in vitro and in vivo, we sought to determine if additional central nervous system (CNS) developmental anomalies could be found in previously autopsied OI type II cases, and if specific abnormalities correlate with OI subtypes. We retrospectively studied brains of nine patients diagnosed with OI. Of these, seven were OI type II: five were OI type IIA, one was type IIB, and one was type IIC. One OI type I specimen and one OI type III brain were included for comparison, as well as five controls. The IIC brain showed hippocampal malrotation, agyria, abnormal neuronal lamination, diffuse hemorrhage, and periventricular leukomalacia (PVL). The IIB brain had white matter gliosis, PVL, and perivascular calcifications, but was normally developed. Of the five type IIA brains, two showed migrational defects with coexisting PVL and gliosis, two were normally developed with similar white matter injuries, and one was grossly normal. These findings support the contention that collagen mutations might negatively impact CNS development.

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Invasion Program of Normal and Cancer Stem Cells

et al. 2008

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Modulations of Cellular Interactions During Development of the Neural Crest: Role of Growth Factors and Adhesion Molecules

Cited by 3 publications

References 80 publications

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Abnormalities in Central Nervous System Development in Osteogenesis Imperfecta Type II

Invasion Program of Normal and Cancer Stem Cells

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