Zebrafish Erc1b mediates motor innervation and organization of craniofacial muscles in control of jaw movement

Luderman, Lauryn N; Michaels, Mackenzie T; Levic, Daniel S.; Knapik, Ela W.

doi:10.1002/dvdy.511

Cited by 4 publications

(3 citation statements)

References 98 publications

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“…Due to the complexity of involved chromosomal imbalances, specific 3q13.13q21.2 deletion might contribute to the corpus callosum and ventriculomegaly, while 12p13.33 deletion could lead to muscular hypotonia, and joint laxity observed in the father of fetus. Remarkably this region contains ERC1 gene appearing as a strong candidate for the aforementioned clinical features, since it was previously reported to be associate with muscle organization ( 30 ), and DECIPHER analysis reveald ERC1 gene as the only gene in the 12p deleted region with %HI value under 10%, suggesting is strong haploinsufficiency status.…”

Section: Discussionmentioning

confidence: 84%

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Libotte¹,

Fabiani²,

Margiotti³

et al. 2023

Exp Ther Med

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Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalances; patients with distal monosomy 12p present different phenotypes ranging from muscular hypotonia to autism spectrum disorders. The present study reported a prenatal diagnosis of a male fetus presenting ultrasound evidence of corpus callosum dysplasia and ventriculomegaly showing a 3q13q21.2 deletion and a 12p13.33 microdeletion paternally inherited. Among several features previously attributed to the terminal deletion of 3q, corpus callosum dysplasia and ventriculomegaly have rarely been reported together. As the 12p13.33 microdeletion in the father was associated only with muscular hypotonia and joint laxity, the involvement of terminal 12p deletions in the clinical features of the fetus was not possible to verify during the prenatal period. The present case report may provide a reference for prenatal diagnosis and genetic counseling in patients who present 3q13q21.2 deletions and 12p13.33 microdeletion.

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Section: Discussionmentioning

confidence: 84%

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Libotte¹,

Fabiani²,

Margiotti³

et al. 2023

Exp Ther Med

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“…Larvae at 3 dpf were fixed overnight in 4% PFA, washed, and moved to 30% sucrose overnight. The following day, larvae were mounted in OCT embedding medium (6769006, ThermoFisher Scientific; Waltham, MA), frozen, cryosectioned, and transferred onto Superfrost slides (12-550-15, ThermoFisher Scientific; Waltham, MA) as previously described ( 60 ). Slides were dried on a heat block, rehydrated in PBS, and mounted onto a Sequenza staining rack.…”

Section: Methodsmentioning

confidence: 99%

Rgp1 contributes to craniofacial cartilage development and Rab8a-mediated collagen II secretion

et al. 2023

Self Cite

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Rgp1 was previously identified as a component of a guanine nucleotide exchange factor (GEF) complex to activate Rab6a-mediated trafficking events in and around the Golgi. While the role of Rgp1 in protein trafficking has been examined in vitro and in yeast, the role of Rgp1 during vertebrate embryogenesis and protein trafficking in vivo is unknown. Using genetic, CRISPR-induced zebrafish mutants for Rgp1 loss-of-function, we found that Rgp1 is required for craniofacial cartilage development. Within live rgp1-/- craniofacial chondrocytes, we observed altered movements of Rab6a+ vesicular compartments, consistent with a conserved mechanism described in vitro. Using transmission electron microscopy (TEM) and immunofluorescence analyses, we show that Rgp1 plays a role in the secretion of collagen II, the most abundant protein in cartilage. Our overexpression experiments revealed that Rab8a is a part of the post-Golgi collagen II trafficking pathway. Following loss of Rgp1, chondrocytes activate an Arf4b-mediated stress response and subsequently respond with nuclear DNA fragmentation and cell death. We propose that an Rgp1-regulated Rab6a-Rab8a pathway directs secretion of ECM cargoes such as collagen II, a pathway that may also be utilized in other tissues where coordinated trafficking and secretion of collagens and other large cargoes is required for normal development and tissue function.

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“…Factors first recognized for their synaptic function are now being discovered to function during axon guidance. In a research article here by Luderman and colleagues, 6 a molecule initially considered a scaffolding protein associated with the pre‐synaptic active zone contributes to earlier stages of PNS innervation. Focusing on the craniofacial muscles controlling jaw movement and using time‐lapse imaging, they show that zebra fish Erc1b is necessary for nerve outgrowth and branching as well as NMJ synapse patterning.…”

mentioning

confidence: 99%

Getting connected: Pathfinding and synaptogenesis in neural development, evolution, and disease

Kale

Williams

Deans

2023

Developmental Dynamics

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Zebrafish Erc1b mediates motor innervation and organization of craniofacial muscles in control of jaw movement

Cited by 4 publications

References 98 publications

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Rgp1 contributes to craniofacial cartilage development and Rab8a-mediated collagen II secretion

Getting connected: Pathfinding and synaptogenesis in neural development, evolution, and disease

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