Multiple developmental programs are altered by loss of<i>Zic1</i>and<i>Zic4</i>to cause Dandy-Walker malformation cerebellar pathogenesis

Blank, Marissa C.; Grinberg, Inessa; Aryee, Emmanuel; Laliberté, Christine; Chizhikov, Victor V.; Henkelman, R. Mark; Millen, Kathleen J.

doi:10.1242/dev.054114

Cited by 98 publications

(83 citation statements)

References 48 publications

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“…Other common features of CHARGE syndrome have also been identified in patients with DWM, including developmental delay and ataxia. Mutations encompassing Zic1 and Zic4 loci have been implicated in DWM and mouse models phenocopy many features of DWM (Blank et al, 2011). Interestingly, anterior hemisphere foliation defects in Zic gene‐deficient mice show similarities with the foliation defect noted in the anterior hemisphere of Chd7 gt/+ mice (Figures 2o and 2p).…”

Section: Discussionmentioning

confidence: 99%

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Whittaker

Kasah

Donovan

et al. 2017

American J of Med Genetics Pt C

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Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio‐temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay.

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Section: Discussionmentioning

confidence: 99%

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Whittaker

Kasah

Donovan

et al. 2017

American J of Med Genetics Pt C

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“…For instance, related phenotypes have been reported from Zic4-deficient mice, interpreted as a murine form of a Dandy-Walker malformation (54). In these mice, foliation defects are attributed to impaired granule cell proliferation.…”

Section: Cers1mentioning

confidence: 99%

Ablation of Neuronal Ceramide Synthase 1 in Mice Decreases Ganglioside Levels and Expression of Myelin-associated Glycoprotein in Oligodendrocytes

Ginkel

Hartmann

Dorp

et al. 2012

Journal of Biological Chemistry

124

114

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Background: Ceramide synthase 1 catalyzes the synthesis of C18 ceramide and is mainly expressed in neurons of the brain. Results: Ablation of ceramide synthase 1 decreases ganglioside levels and expression of oligodendrocytic myelin-associated glycoprotein in motor-impaired mice. Conclusion: CerS1-derived C18 gangliosides are essential for cerebellar development and neurodevelopmentally regulated behavior in mice. Significance: Neuronal gangliosides regulate expression of myelin-associated glycoprotein in oligodendrocytes.

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“…6. DWM; however, they are lethal prior to weaning, adding the complication of incomplete skull development (1,15). Nonetheless, the analysis as demonstrated here provides a quantitative measure of the brain-skull phenotype relationships and will be useful in additional studies of mouse models of human conditions for identifying perturbations of the close fit between the brain and skull.…”

Section: Discussionmentioning

confidence: 93%

“…Mice were fixed at ϳ60 wk of age for ex vivo imaging, with five mice in each the control and mutant groups. (15). Image analyses and comparisons described below were all made between control and mutant images for the ODD and DWM separately.…”

Section: Mice the Gja1mentioning

confidence: 99%

If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse

Nieman

Blank

Roman

et al. 2012

Physiological Genomics

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KJ. If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse. Physiol Genomics 44: 992-1002. First published September 4, 2012 doi:10.1152/physiolgenomics.00093.2012.-The mammalian brain and skull develop concurrently in a coordinated manner, consistently producing a brain and skull that fit tightly together. It is common that abnormalities in one are associated with related abnormalities in the other. However, this is not always the case. A complete characterization of the relationship between brain and skull phenotypes is necessary to understand the mechanisms that cause them to be coordinated or divergent and to provide perspective on the potential diagnostic or prognostic significance of brain and skull phenotypes. We demonstrate the combined use of magnetic resonance imaging and microcomputed tomography for analysis of brain and skull phenotypes in the mouse. Co-registration of brain and skull images allows comparison of the relationship between phenotypes in the brain and those in the skull. We observe a close fit between the brain and skull of two genetic mouse models that both show abnormal brain and skull phenotypes. Application of these three-dimensional image analyses in a broader range of mouse mutants will provide a map of the relationships between brain and skull phenotypes generally and allow characterization of patterns of similarities and differences. craniofacial development; mouse phenotyping; mouse imaging; oculodentodigital dysplasia; Dandy-Walker malformation THE DEVELOPMENT OF THE BRAIN and skull is an intricate and coordinated process that results in two complex structures fitting tightly together. Both physical and genetic factors participate in the direction of this process, and changes in either may result in an altered brain and/or skull morphometry. Characterization of such alterations, and of how brain and skull alterations relate to one another, will provide insight into the process of normal brain and skull development and into conditions where this development is perturbed.It is recognized that the physical interaction between structures in the developing brain and skull can induce covariation in their shape (61). Premature fusion of a cranial suture, for example, results in an abnormal skull shape due to growth restriction in one direction (51). Brain growth is also physically constrained in these circumstances, and the brain is similarly altered in shape (5,6,77). Fear of increased intracranial pressure and abnormal craniofacial development motivates corrective surgery in these patients to partly normalize anatomical outcome (71). Furthermore, simple geometric measurements of the skull, such as the angle between the skull base and the front of the brain or landmarks on the facial bones, show a high degree of correlation with the total volume of the brain (16,59,81,82). This observation seems to hold true in multiple species of mammals, a fact that informs some studies in anthropology and evoluti...

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Multiple developmental programs are altered by loss ofZic1andZic4to cause Dandy-Walker malformation cerebellar pathogenesis

Cited by 98 publications

References 48 publications

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Ablation of Neuronal Ceramide Synthase 1 in Mice Decreases Ganglioside Levels and Expression of Myelin-associated Glycoprotein in Oligodendrocytes

If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse

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