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At least 577 records · Page 32Linked to original sources
PubMed2000

Differential expression of cytoskeletal proteins in the dendrites of parvalbumin-positive interneurons versus granule cells in the adult rat dentate gyrus.

Parvalbumin-positive interneurons and granule cells of the dentate gyrus exhibit characteristic differences in morphological, cytochemical, physiological, and pathophysiological properties. Several of these defining features, including dendritic morphology, spine density, and sensitivity to insults, are likely to be influenced by the neuronal cytoskeleton. The data in this paper demonstrate striking differences in the expression levels of all three neurofilament triplet proteins, as well as alpha-internexin and beta-tubulin III, between the parvalbumin-positive interneurons and dentate granule cells. Therefore, the molecular composition of intermediate filaments and microtubules in the dendritic domain of parvalbumin-positive dentate interneurons is distinct from the cytoskeleton of neighboring granule cells, indicating the existence of highly cell type-specific cytoskeletal architecture within the dentate gyrus.

Age Factors↗
PubMed2000

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

PURPOSE: To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions. METHODS: Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with single-strand conformation analysis and/or direct sequencing. RESULTS: Among 315 patients over an 8-year period, cases of retinitis pigmentosa (63.2%), Usher's syndrome (10.2%), Stargardt's disease (5.4%), choroideremia (3.2%), Leber's congenital amaurosis (3.2%), congenital stationary night blindness (2.9%), cone dystrophy (2.5%), dominant optic atrophy (1.9%), X-linked juvenile retinoschisis (1.6%), Best's disease (1.6%), and others (4.3%) were diagnosed. In retinitis pigmentosa, inheritance could be determined in 54.2% of the cases including dominant autosomic (26.6%), recessive autosomic (22.6%), and X-linked cases (5%) while it could not be confirmed in 45.7% of the cases (simplex cases in the majority). For the 6 examined genes, mutations were found in 22 out of 182 propositus (12.1%). Analysis of phenotype-genotype correlations indicates that in retinitis pigmentosa, RDS is more frequently associated with macular involvement and retinal flecks, RHO with regional disease, and RPE65 with the great severity of the disease with some cases of Leber's congenital amaurosis. CONCLUSIONS: Identification of genes may help in diagnosis and in genetic counseling, especially in simplex cases with retinitis pigmentosa. In this latter condition, molecular diagnosis will be necessary to rationalize future treatments.

Adaptor Proteins, Signal Transducing↗
PubMed2000

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].

PURPOSE: Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out. METHODS: A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis. RESULTS: No mutation was found in any of the family members. CONCLUSIONS: Mutations in other genes may be involved in retinal dystrophies.

Adult↗
PubMed2001

[Cloning the differentially expressed genes in the retina of rds mouse during the development of retinitis pigmentosa].

OBJECTIVE: To clone the differentially expressed genes in the retina of rds mouse (the animal model of congenital retinitis pigmentosa) during the disease development. METHODS: The retinal mRNA of rds mouse during the development of retinitis pigmentosa was analyzed by the mRNA differential display. The differentially expressed mRNA fragments were cloned and sequenced. RESULTS: There was obvious difference of gene expression between rds mouse and the control during the development of retinitis pigmentosa. Five differentially expressed bands were cloned and sequenced. One of those had 86% identity (132/154) with the sequence of the human cDNA DKFZp434D1227 from adult testis in GenBank, which was submitted lately (15-Oct-1999) and without much information. The other had lower identity with the sequences in GenBank. A highly expressed clone in the rds mouse on postnatal day 25 had the same length as another clone in the normal on postnatal day 37, which was not expressed in the rds mouse on day 37. The sequences of the two clones were identical in all but two base pairs. CONCLUSION: These results indicate that there are a lot of novel differentially expressed genes in the chronic processing diseases, such as retinitis pigmentosa.

Animals↗
PubMed2000

[The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa].

OBJECTIVE: To investigate retinal degeneration slow (RDS) gene mutation in a Chinese family with primary retinitis pigmentosa (RP) and the association of the mutation with clinical phenotypes and to explore the pathogenesis of RP. METHODS: Blood DNA from 2 patients in the same family with RP and 2 normal persons was analyzed by molecular genetic methods. RDS gene mutation was screened out by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. The mutant RDS gene fragment was cloned, then sequenced with an automatic DNA sequencer using a dideoxy chain termination protocol. The phenotype of the patients with the gene mutation were examined and determined by clinical ophthalmologic examinations. RESULTS: The PCR-RFLP analysis of the RDS gene in 2 patients with RP revealed codon 216 mutation of RDS gene. The mutation was heterozygous, and not found in 2 normal persons as controls. The alteration in the DNA sequence was identified as a heterozygous transversional change of C to T at the second nucleotide in codon 216 of RDS gene, resulting in the amino acid replacement of proline residue with leucine residue (Pro216Leu). The ocular finding of the patients with Pro216Leu mutation of RDS gene included severe visual loss and diffuse distribution of pigmentary changes with macular degeneration. CONCLUSIONS: The Pro216Leu mutation of RDS gene is found in Chinese patients with RP. The gene mutation is associated with the ocular phenotype, diffuse RP with macular degeneration.

Adult↗
PubMed2002

[Molecular pathology of retinitis pigmentosa].

BACKGROUND: Retinitis pigmentosa (RP) is primary, chronic, and hereditary chorioretinal degeneration characterized by photopsia, progressive visual loss with ring scotoma, and impairment of dark adaptation. Although modern molecular biology and molecular genetics have identified many causative genes, the molecular pathophysiology of RP is not fully understood, and no effective treatments have been found yet. In recent studies using animal models of RP, new treatments have been devised and their clinical use is being considered. METHOD: In terms of the molecular pathophysiology of RP, we summarized previous studies of genetic impairment of proteins involved in the phototransduction pathway and introduced new possible therapies for RP. RESULTS: We found that most abnormalities of the genes related with the photoxcitation and its inhibition process in the photoreceptor cells caused a variety of clinical manifestations of RP. CONCLUSION: So far, a variety of abnormalities of the genes causing RP have been identified. However, further studies of the relationship between the abnormalities and clinical expression are needed for better understanding of the pathophysiology of RP.

3',5'-Cyclic-GMP Phosphodiesterases↗
PubMed1998

[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].

PURPOSE: To disclose the mutation of rhodopsin and peripherin/RDS genes among Chinese patients with retinitis pigmentosa as there was no identified mutation through sequencing reported in Chinese. METHODS: Genomic DNA was prepared from the peripheral lymphocytes. Gene fragments of the rhodopsin and peripherin/RDS genes were amplified by the polymerase chain reaction. The PCR products were analyzed by Heteroduplex-SSCP technique. PCR samples with aberrant migrational bands were identified through direct sequencing or cloning sequencing. RESULTS: Three different mutations in the rhodopsin gene were found in 3 of the 83 patients with retinitis pigmentosa(Va1104Phe, Lys311Glu, Pro347Leu). Two of the three mutations have not been reported before. One of the two (heterozygous, Va1104Phe) was found in an isolated patient and the other (homozygous, Lys311Glu) in a family with autosomal recessive retinitis pigmentosa. Mutation of peripherin/RDS gene was not found in the 83 patients. CONCLUSION: Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.

Base Sequence↗
PubMed2003

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

PURPOSE: Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations in the peripherin/RDS gene. The initial aim of our study was to investigate the peripherin/RDS gene as the causative gene in a family with BSMD. Subsequently the putative involvement of the ROM-1 gene, 4 genes expressed in cone photoreceptors, all known non-syndromic macular, retinal pigment epithelium and choroidal dystrophy loci, all known Leber congenital amaurosis loci and all known non-syndromic congenital and stationary retinal disease loci was examined. METHODS: Thirteen members from the original family with autosomal dominant BSMD were examined. The protein coding exons of the peripherin/RDS gene were screened for mutations by sequence analysis. Linkage analysis was performed using markers flanking the peripherin/RDS gene to rule out the presence of a heterozygous deletion. Likewise, involvement of the ROM-1 gene, four cone genes, 41 non-syndromic retinal disease loci and one syndromic retinal disease locus was investigated. RESULTS: Sequence analysis of the peripherin/RDS gene revealed no mutations. In addition, the BSMD phenotype could not be genetically linked to the peripherin/RDS gene, the ROM-1 gene and the four cone genes nor to any of the 42 retinal disease loci. CONCLUSIONS: This study reveals genetic heterogeneity for BSMD by the identification of a BSMD family, which is not associated with a mutation in the peripherin/RDS gene nor with any other known non-syndromic retinal disease gene.

Adolescent↗
PubMed2005

Peripherin/RDS gene in Indonesian patients with retinitis pigmentosa: geographic comparison of polymorphic variations.

To analyze peripherin/RDS (retinal degeneration slow) gene alterations in Indonesian patients with retinitis pigmentosa. We examined the gene in 13 unrelated Indonesian patients with retinitis pigmentosa and in 24 normal individuals. Peripheral venous blood was extracted, and genomic DNAs were amplified by polymerase chain reaction (PCR). The PCR products were directly sequenced. Each subject underwent ocular examination. The prevalence of the gene alteration was compared to that reported in Japanese and Caucasian populations. Among 13 patients, 3 concurrently had Glu304Gln and Gly338 Asp alterations at exon 3 of the peripherin/RDS gene. Two patients had heterozygous alterations and one had a homozygous variation. The prevalence of the alterations (23%) in Indonesian patients was similar to that in Japanese patients (26%) and was lower than that in Caucasian patients (30-70%). The alterations were also observed in 7 of 24 (29%) normal healthy Indonesian individuals. Peripherin/RDS gene polymorphisms (Glu304Gln and Gly338Asp) were found in Indonesian patients with retinitis pigmentosa. The prevalence of alterations in Indonesian patients was similar to that in Japanese patients and lower than in Caucasian patients.

Amino Acid Sequence↗
PubMed2006

Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.

PURPOSE: Adult-onset vitelliform macular dystrophy (AVMD) is a pleomorphic late-onset macular phenotype characterized by a central yellow deposit between the neural retina and retinal pigment epithelium. Mutations in the genes encoding peripherin/RDS and VMD2 have been previously reported in some subjects with AVMD. The purpose of this investigation was to determine the prevalence of mutations in these two genes in a cohort of cases with macular dystrophies presenting with vitelliform lesions in adulthood. METHODS: Fifty nine consecutively ascertained and unrelated subjects prospectively coded as pattern or vitelliform macular dystrophies were reviewed and twelve subjects with a vitelliform lesion were identified. Patient evaluation included comprehensive ocular examination, retinal imaging, and functional studies in selected subjects. The RDS and VMD2 genes were screened for variation by direct DNA sequencing of coding regions and intron/exon boundaries. RESULTS: Twenty-two DNA sequence variants were identified in the genes encoding RDS and VMD2. A Pro210Arg variant found in the RDS gene of one subject was the only definite mutation detected in either gene. CONCLUSIONS: The Pro210Arg mutation has been reported previously in patients with pattern dystrophy confirming the observation that pattern dystrophy can present with an AVMD phenotype. Although RDS and VMD2 are the only known genes with mutations contributing to AVMD, our series demonstrates that most patients have mutations in genes that have yet to be discovered.

Age of Onset↗
PubMed1995

What can be learned from intermediate filament gene regulation in the mouse embryo.

In recent years, intermediate filaments (IFs) have attracted much interest, largely because their constitutive polypeptide units are specifically expressed in various cell types and thus represent excellent differentiation markers. Data obtained through biochemical studies and molecular cloning have allowed the classification of IFs into five types according to their protein structure. The expression of most IF types is characteristic of a given cell type: cytokeratins (IF types I and II) are produced in epithelia, neurofilaments and alpha-internexin (type IV) in neurons and nestin (type IV) in neuroblast and myoblast. On the other hand the four type III IFs are highly related proteins which are expressed in different cell types. Thus the study of type III IF gene regulation provides an excellent approach towards the analysis of cell-specific transcription. This review focuses on type III IF gene regulation during mouse embryogenesis and describes the latest data obtained through the combination of both in vitro (in cell lines) and in vivo (in transgenic mice) approaches. It appears that, while intragenic sequences play a major role in the regulation of the expression of the genes encoding other types of IFs, a major contribution to the transcriptional regulation of type III IF genes is brought by 5' upstream sequences. However, recent evidence obtained through the use of transgenic mice indicate that upstream sequences must cooperate with intragenic elements to establish the complex and dynamic expression pattern characteristic of type III IF genes. The very high similarity between the coding sequences of type III IF genes raises the question of the significance of the occurrence of four members of this class. We propose a model for the amplification of this small gene family based on the increasing complexity of expression patterns in higher organisms. This could have led first to the requirement for a highly sophisticated control region in an ancestral type III IF gene, followed by two successive gene duplications, thus leading to the appearance of four different regulatory regions directing the cell-specific transcription of nearly identical genes in different cell types.

Animals↗
PubMed1993

[A molecular biological study on retinitis pigmentosa].

Retinitis pigmentosa was investigated with molecular genetic techniques, to identify gene abnormalities and to obtain a better understanding of the mechanism of retinal degeneration. First, a search for candidate genes was performed focusing on rhodopsin, peripherin/RDS, and phosducin genes, using non-radioisotopic SSCP and genomic DNA samples obtained from 387 Japanese patients with retinitis pigmentosa, including 56 families of the autosomal dominant type (ADRP). One ADRP family with rhodopsin Pro-347-Leu mutation and another with peripherin/RDS Asn-244-Lys mutation were identified. The genotype and phenotype correlation of each ADRP family was then analysed. Ocular findings associated with the rhodopsin Pro-347-Leu in the Japanese family were similar to those reported in Caucasian families, indicating that the same mutation can produce the common phenotype even among different ethnic populations. The phenotype associated with the peripherin/RDS Asn-244-Lys showed typical findings of retinitis pigmentosa associated with bull's-eye maculopathy. Finally, glutamate was immunohistochemically quantified in the photoreceptor inner segment of rds/rds mice using anti-Glu antibody. The results showed that glutamate was accumulated in the rds/rds mouse photoreceptor inner segment, suggesting that glutamate may play a role in the process of retinal degeneration caused by the peripherin/RDS gene abnormality, although the precise mechanism is currently unknown.

Animals↗
PubMed1993

Demonstration of peripherin/rds mRNA in normal and light-damaged rat retinas by in situ hybridization histochemistry.

Cellular expression of the mRNA for peripherin/rds was studied in rat retinas by in situ hybridization histochemistry with antisense and sense probes prepared from polymerase chain reaction-amplified cDNA of the bovine peripherin/rds. Predominant mRNA signals were detected in the inner segments and distal region of the outer nuclear layer, but not in other layers of the retina including retinal pigment epithelium or in the choroid, giving evidence that the gene product, peripherin/rds, is synthesized specifically in the inner segment ribosomes to form outer segment disc membranes of photoreceptor cells. The in situ hybridization technique was applied to explore how mRNA for peripherin/rds is affected by light-induced retinal damage in rats. Following 3 days of continuous exposure to low-intensity fluorescent light, the mRNA expression in adult rats was found to be defective, although photoreceptor cells were still observed by light microscopy. After longer exposure to continuous light, the mRNA expression was severely damaged or undetectable, together with loss of photoreceptor cells.

Animals↗
PubMed1996

Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells.

PURPOSE: To characterize the molecular properties, cellular distribution, and subcellular distribution of bovine rom-1 and its interaction with peripherin/rds in photoreceptor cells as an important step toward elucidating the role of rom-1 in photoreceptor outer segment structure-function relationships and in inherited retinal degenerative disorders. METHODS: Bovine rom-1 cDNA, including a portion of the promoter region, was cloned, sequenced, and heterologously expressed in CHO-K1 and COS-1 cultured mammalian cells. Monoclonal and polyclonal antibodies to specific regions of bovine rom-1 were generated and used with biochemical and immunocytochemical techniques to study the membrane topology, subcellular distribution, and interaction of rom-1 with peripherin/rds. RESULTS: The primary structure of bovine rom-1 is highly homologous to that of human and mouse rom-1. Proteolytic digestion studies and immunolabeling studies of rom-1 in rod outer segment membranes indicate that the C-terminus of rom-1 is localized to the cytoplasmic side and that a large segment is localized to the lumen side of the disc membrane. Post-embedding and pre-embedding immunogold labeling studies for electron microscopy show that rom-1 is localized to the rim region of bovine rod outer segment disc membranes; rom-1 or a closely related homologue also is present at the rim region of cone outer segment disc membranes. Immunofluorescence studies of mammalian cells expressing rom-1 indicate that rom-1 is not translocated to the plasma membrane but instead is retained in internal cellular membranes. Immunoprecipitation studies indicate that all rom-1 and peripherin/rds from rod outer segments form a tightly associated complex. CONCLUSIONS: Rom-1 and peripherin/rds are two structurally related protein subunits of an integral membrane protein complex found on the rim region of rod outer segment disc membranes. Rom-1 or a homologue also is present in the rim region of cone outer segment disc membranes, where it most likely associates with peripherin/rds to form a membrane protein complex.

Amino Acid Sequence↗
PubMed1996

Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci.

PURPOSE: To determine whether early retinal degeneration (erd) and progressive rod cone degeneration (prcd), two canine hereditary retinal degenerations, are caused by allelic mutations; to determine the cDNA sequence of the canine RDS/peripherin homolog (CFRDSP); and to test whether mutations(s) in CFRDSP cause(s) either erd or prcd. METHODS: Three erd-affected dogs were crossbred to three prcd-affected dogs, and their progeny were tested by electroretinography and retinal morphology for evidence of retinal degeneration. Canine RDS/peripherin cDNA was cloned and sequenced after reverse-transcription-polymerase chain reaction (RT-PCR) of total retinal RNA. A set of overlapping fragments of CFRDSP cDNA amplified from normal and prcd-affected retinal RNA was examined by double-stranded conformational polymorphism analysis for evidence of any mutation in prcd-affected dogs. RDS/peripherin-specific restriction fragment length polymorphism (RFLP) allelic differences within informative prcd and erd pedigrees were sought by digestion of amplified regions of the CFRDSP gene with different restriction enzymes. A Hinf I RFLP was identified with alleles segregating in a set of prcd and erd informative pedigrees. Linkage of CFRDSP to either prcd or erd was tested using the LINKAGE analysis package. RESULTS: All progeny from the erd x prcd cross were phenotypically normal at ages beyond the age of diagnosis for both parental disorders. The sequence of CFRDSP cDNA is reported (Genbank accession U27349). It is, overall, 79% identical at the nucleotide level with the corresponding human sequence. The coding region shares 89% and 93% nucleotide identity with the corresponding human and feline sequences, respectively. No mutation has been identified in the coding region of CFRDSP in prcd-affected dogs. In prcd pedigrees informative for both prcd and the CFRDSP Hinf I RFLP, a minimum of six obligate recombinants were identified. Similarly, in erd pedigrees, 14 of 29 progeny informative for both erd and this RFLP were obligate recombinants. CONCLUSIONS: The canine erd and prcd mutations are nonallelic. The canine RDS/peripherin gene (CFRDSP) has been excluded as a candidate for both prcd and erd. The demonstrated informativeness of the canine pedigrees on which these studies were based will enable testing other candidate genes for prcd and erd. Sequence information of CFRDSP will enable testing this locus as a candidate in other canine hereditary retinal degenerations.

Alleles↗