Frmpd1 Facilitates Trafficking of G-Protein Transducin and Modulates Synaptic Function in Rod Photoreceptors of Mammalian Retina

Campla, Christie K; Bocchero, Ulisse; Strickland, Ryan; Nellissery, Jacob; Advani, Jayshree; Ignatova, Irina I.; Srivastava, Dhiraj; Aponte, Angel; Wang, Yuchen; Gumerson, Jessica; Martemyanov, Kirill A.; Artemyev, Nikolai O.; Pahlberg, Johan; Swaroop, Anand

doi:10.1523/eneuro.0348-22.2022

Cited by 4 publications

(2 citation statements)

References 65 publications

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“…COL11A1, also associated with Stickler and Marshall syndromes, may only present a phenotype in the eye, such as EoHM [15,37]. As for FRMPD1, the protein it encodes directly interacts with Gpsm2 (G-protein signaling modulator 2) and is necessary for the optimization of the rod-to-bipolar synaptic transmission when Gαt is present at the synapse [38].…”

Section: Oft-00191 Familymentioning

confidence: 99%

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

Sánchez-Cazorla,

González-Atienza,

López-Vázquez

et al. 2023

IJMS

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High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.

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Section: Oft-00191 Familymentioning

confidence: 99%

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

Sánchez-Cazorla,

González-Atienza,

López-Vázquez

et al. 2023

IJMS

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“…It would therefore seem that UNC119 can have an effect by itself without transducin, but that this effect is potentiated when transducin is present after bright light exposure. Besides UNC119, other transducin partners in rod photoreceptors, such as GPSM2 and Frmpd1, may also modulate signal transmission to the rod bipolar cell after transducin translocation [26].…”

Section: Modulation Of Synaptic Transmission By Transducinmentioning

confidence: 99%

A Novel Role for UNC119 as an Enhancer of Synaptic Transmission

Fehlhaber

Majumder

Boyd

et al. 2023

IJMS

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Mammalian UNC119 is a ciliary trafficking chaperone highly expressed in the inner segment of retinal photoreceptors. Previous research has shown that UNC119 can bind to transducin, the synaptic ribbon protein RIBEYE, and the calcium-binding protein CaBP4, suggesting that UNC119 may have a role in synaptic transmission. We made patch-clamp recordings from retinal slices in mice with the UNC119 gene deleted and showed that removal of even one gene of UNC119 has no effect on the rod outer segment photocurrent, but acted on bipolar cells much like background light: it depolarized membrane potential, decreased sensitivity, accelerated response decay, and decreased the Hill coefficient of the response–intensity relationship. Similar effects were seen on rod bipolar-cell current and voltage responses, and after exposure to bright light to translocate transducin into the rod inner segment. These findings indicate that UNC119 deletion reduces the steady-state glutamate release rate at rod synapses, though no change in the voltage dependence of the synaptic Ca current was detected. We conclude that UNC119, either by itself or together with transducin, can facilitate the release of glutamate at rod synapses, probably by some interaction with RIBEYE or other synaptic proteins rather than by binding to CaBP4 or calcium channels.

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Rod Photoreceptor Cells: Soma and Synapse

Smith

2024

Reference Module in Neuroscience and Biobehavioral Psychology

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Frmpd1 Facilitates Trafficking of G-Protein Transducin and Modulates Synaptic Function in Rod Photoreceptors of Mammalian Retina

Abstract: Frmpd1 facilitates trafficking of G-protein transducin and modulates synaptic function in rod photoreceptors of mammalian retina

Cited by 4 publications

References 65 publications

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

A Novel Role for UNC119 as an Enhancer of Synaptic Transmission

Rod Photoreceptor Cells: Soma and Synapse

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