Fibroblast growth factor (FGF) gene expression in the developing cerebellum suggests multiple roles for FGF signaling during cerebellar morphogenesis and development

Yaguchi, Yuichiro; Yu, Tian; Ahmed, Mustafa; Berry, Mary J.; Mason, Ivor; Basson, M. Albert

doi:10.1002/dvdy.22013

Cited by 45 publications

(53 citation statements)

References 83 publications

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“…To determine the identity of this fissure, we used molecular markers with restricted expression domains in the perinatal cerebellum. We have previously shown that Fgf3 and Fgf5 expression patterns are mutually exclusive at this stage (Yaguchi et al, 2009), with the border between Fgf3 expression anteriorly and Fgf5 expression posteriorly corresponding to the position of Ppy fissure formation (blue arrow, Figures 4a, 4c, and 4e). Examination of Fgf3 and Fgf5 expression in the E18.5 Chd7 gt/+ vermis, found that Fgf3 expression was shifted posteriorly at the expense of Fgf5 expression (Figures 4d and 4f).…”

Section: Resultsmentioning

confidence: 63%

“…We have also reported that Fgf8 is expressed in the late embryonic (E16.5) and early postnatal cerebellum at the site of the developing secondary fissure (Yaguchi et al, 2009). Sato and Joyner have shown that Fgf8 deletion from ∼E12 of development results in mice with a posteriorly located lobule VIII (Sato & Joyner, 2009), the identical foliation change we report here in Chd7 gt/+ mice.…”

Section: Discussionmentioning

confidence: 82%

“…In situ hybridization was performed using previously described methods (Yaguchi et al, 2009). Digoxigenin‐labeled antisense probes Fgf3 and Fgf5 were generated using previously described constructs (Yaguchi et al, 2009).…”

Section: Methodsmentioning

confidence: 99%

“…Digoxigenin‐labeled antisense probes Fgf3 and Fgf5 were generated using previously described constructs (Yaguchi et al, 2009). …”

Section: Methodsmentioning

confidence: 99%

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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: Resultsmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 82%

Section: Methodsmentioning

confidence: 99%

“…Digoxigenin‐labeled antisense probes Fgf3 and Fgf5 were generated using previously described constructs (Yaguchi et al, 2009). …”

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

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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“…Genes such as TACC3, LETM1 and FGFR3 which are involved in duplicated region may have roles in the patient phenotype such as Seizure and skeletal abnormalities [14][15][16][17][18]. As far as 9p deletion is concerned, patients with 9p deletion present with MR, craniofacial dysmorphic features and genital or gonadal disorders [19][20][21].…”

Section: Discussionmentioning

confidence: 99%

Pathologic Genomic Rearrangements in Idiopathic Mentally Retarded Patients from Iran

Bahari¹,

Akbari

Tabarestani³

et al. 2015

J Neurol Neurophysiol

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Background: Mental retardation is a relatively frequent disorder and occurs in 1-3% of the general population. Chromosomal rearrangements involving microdeletion and microduplication particularly in subtelomeric regions are involved as a significant cause of idiopathic mental retardation. This study was designed to detect these aberrations in the Iranian patients with idiopathic mental retardation.

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A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

Cyr

Nimmakayalu

Longmuir

et al. 2011

American J of Med Genetics Pt A

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Larger imbalances on chromosome 4p in the form of deletions associated with Wolf-Hirschhorn syndrome (WHS) and duplications of chromosome 4p have a defined clinical phenotype. The critical region for both these clinical disorders has been narrowed based on the genotype-phenotype correlations. However, cryptic rearrangements in this region have been reported infrequently. We report on a male patient with a microduplication of chromosome 4p, who presents with findings of macrocephaly, irregular iris pigmentation-heterochromia, and preserved linear growth in addition to overlapping features of trisomy 4p such as seizures, delayed psychomotor development, and dysmorphic features including prominent glabella, low-set ears, and short neck. Using a high-density oligonucleotide microarray, we have identified a novel submicroscopic duplication involving dosage sensitive genes TACC3, FGFR3, and LETM1. The microduplication did not involve WHSC1 and WHSC2 which are considered in the critical region for WHS and trisomy 4p. This patient's presentation and genomic findings help further delineate clinical significance of re-arrangements in the 4p16 region without the involvement of WHS critical region.

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Fibroblast growth factor (FGF) gene expression in the developing cerebellum suggests multiple roles for FGF signaling during cerebellar morphogenesis and development

Cited by 45 publications

References 83 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

Pathologic Genomic Rearrangements in Idiopathic Mentally Retarded Patients from Iran

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

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