Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene.

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Research Abstract Details 

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Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Abstract Text:

Britt A Johnson,Sakae Ikeda,Lawrence H Pinto,Akihiro Ikeda,

X-linked retinoschisis (XLRS) is a common form of inherited macular degeneration caused by mutations in the RS1 gene. Whereas the role of RS1 has been implicated in the synaptic structure as well as layer organization in the retina, the pathological effect of a defective RS1 gene on the synaptic interaction between photoreceptor cells and second-order neurons has not been thoroughly investigated. In this study, we perform a detailed characterization of the retinal synaptic phenotypes caused by a splice site mutation in the murine RS1 homolog (Rs1h(tmgc1)). Electron microscopic analysis showed that presynaptic terminals of photoreceptor cells contain a lower areal density of synaptic vesicles in the Rs1h(tmgc1) retina. Examination of the synaptic interactions in the outer plexiform layer also revealed ectopic localization of photoreceptor cell presynaptic markers and elongation of neurites from postsynaptic neurons (bipolar and horizontal cells), which are observed in other mouse models with defective photoreceptor cell molecules. Consistent with these synaptic abnormalities, ERG analysis of young Rs1h(tmgc1) mice revealed attenuation of the b-wave with preservation of the a-wave. These results demonstrate that RS1H has functional significance in the morphology and function of the synapse between photoreceptors and second-order neurons. A developmental study from postnatal day (P) 15 through P19 showed that synaptic interactions form normally, and structural abnormalities occur after completion of synaptic formation suggesting that RS1H is important for the maintenance of this synaptic interaction. Thus, Rs1h(tmgc1) mice may serve as a new genetic model for human XLRS and other synaptic disorders.

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Publishing Authors By Initials

BA Johnson,S Ikeda,LH Pinto,A Ikeda,

For similar nervous system: synapses: synaptic vesicles research abstracts see: nervous system: synapses: synaptic vesicles research

PUBMED ID PMID:

MEDLINE DATE: 2006 Nov-Dec

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Visual neuroscience

VOLUME: 23

Page Numbers: 887-98

Journal Abbreviation: Vis. Neurosci.

ISSN: 0952-5238

DAY: 3

MONTH: 12

YEAR: 2007

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 8809466

Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Keywords Mesh Terms:

KEYWORDS: Synaptic Vesicles

MESH TERMS: ultrastructure

Chemical & Substance for Abstract: Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Information

Substance Name: Rs1h protein, mouse

Registry Number: 0

Grant and Affiliation Information for Reduced synaptic vesicle density and aberrant synaptic localization caused by a splice site mutation in the Rs1h gene.

AFFILIATION: Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA.

Country: England

AGENCY: United States NEI

GRANT: R01EY016394

ACRONYM: EY

MEDLINETA: Vis Neurosci

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