Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish

Gibert, Yann; McMillan, D. Randy; Kayes-Wandover, Kathleen M.; Meyer, Axel; Begemann, Gerrit; White, Perrin C.

doi:10.1016/j.gene.2005.05.015

Cited by 18 publications

(12 citation statements)

References 31 publications

(35 reference statements)

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“…The GPR98 gene (also known as VLGR1 or MASS1) encodes for a member of the G-protein-coupled receptors family 2, which are probably involved in cell-cell adhesion. 25 In situ hybridization studies on mouse embryos have shown that GPR98 is highly expressed in the CNS, particularly in the ventricular zone, and likely plays an important role in brain development. 26 Mutations in GPR98 have been found in a family with febrile seizures 27 and have also been described in the Frings mouse, 28 which exhibits audiogenic seizures.…”

Section: Discussionmentioning

confidence: 99%

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Cardoso¹,

Boys²,

Parrini³

et al. 2009

Neurology

114

129

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We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.

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Section: Discussionmentioning

confidence: 99%

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Cardoso¹,

Boys²,

Parrini³

et al. 2009

Neurology

114

129

View full text Add to dashboard Cite

show abstract

“…GPR98/Mass1 is highly expressed in the developing CNS of zebrafish embryos, particularly in the hypothalamus, epiphysis and the rhombic lips. 20 Mouse embryos show a high level of expression restricted to the eyes and the developing CNS, particularly in the ventricular zone, home of neural progenitor cells during embryonal neurogenesis. 21 GPR98/MASS1, a known epilepsy gene, contains both the epilepsy-associated repeat (EAR) and the epitempin (EPTP) repeat.…”

Section: Discussionmentioning

confidence: 99%

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

et al. 2009

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Molecular karyotyping is being increasingly applied to delineate novel disease causing microaberrations and related syndromes in patients with mental retardation of unknown aetiology. We report on three unrelated patients with overlapping de novo interstitial microdeletions involving 5q14.3-q15. All three patients presented with severe psychomotor retardation, epilepsy or febrile seizures, muscular hypotonia and variable brain and minor anomalies. Molecular karyotyping revealed three overlapping microdeletions measuring 5.7, 3.9 and 3.6 Mb, respectively. The microdeletions were identified using single nucleotide polymorphism (SNP) arrays (Affymetrix 100K and Illumina 550K) and array comparative genomic hybridization (1 Mb Sanger array-CGH). Confirmation and segregation studies were performed using fluorescence in situ hybridization (FISH) and quantitative PCR. All three aberrations were confirmed and proven to have occurred de novo. The boundaries and sizes of the deletions in the three patients were different, but an overlapping region of around 1.6 Mb in 5q14.3 was defined. It included five genes: CETN3, AC093510.2, POLR3G, LYSMD3 and the proximal part of GPR98/MASS1, a known epilepsy gene. Haploinsufficiency of GPR98/MASS1 is probably responsible for the seizure phenotype in our patients. At least one other gene contained in the commonly deleted region, LYSMD3, shows a high level of central nervous expression during embryogenesis and is also, therefore, a good candidate gene for other central nervous system (CNS) symptoms, such as psychomotor retardation, brain anomalies and muscular hypotonia of the 5q14.3 microdeletion syndrome.

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“…GPR98 ortholog mRNAs were detected in the mouse and zebrafish brains [67, 169]. VLGR1 protein is highly enriched in the mouse midbrain superior and inferior colliculi [70], while inferior colliculus is known to participate in the occurrence of audiogenic seizures [170].…”

Section: Functional Studies Of Ush Gene Productsmentioning

confidence: 99%

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

Mathur

Yang

2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

279

301

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Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in the occurrence of USH and atypical USH. Among them, twelve have been identified as causative genes and one as a modifier gene. Studies on the proteins encoded by these USH genes suggest that USH proteins interact among one another and function in multiprotein complexes in vivo. Although their exact functions remain enigmatic in the retina, USH proteins are required for the development, maintenance and function of hair bundles, which are the primary mechanosensitive structure of inner ear hair cells. Despite the unavailability of a cure, progress has been made to develop effective treatments for this disease. In this review, we focus on the most recent discoveries in the field with an emphasis on USH genes, protein complexes and functions in various tissues as well as progress toward therapeutic development for USH.

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Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish

Cited by 18 publications

References 31 publications

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

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