New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

Reig, Carlos Padrós i; Alvarez, A.; Tejada, Isabel; Molina, Manuel; Aróstegui, Esteban; Martín, Rosa; Antich, Jaume; Carballo, Miguel

doi:10.1002/(sici)1098-1004(1996)8:1<93::aid-humu17>3.0.co;2-m

Cited by 9 publications

(7 citation statements)

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“…Reviews in exon 5 [80] at the 3%-end [81] and mutation in the 3%-acceptor splice site of intron 4 [82] of the rhodopsin gene have also been shown to be responsible for dominant diseases. Mutation in the rhodopsin gene has also been reported to be the cause for autosomal recessive [83] and simplex cases of retinitis pigmentosa [84,85] and congenital stationary night blindness [86,87].…”

Section: Reviewsmentioning

confidence: 99%

Signal transduction in the retina and inherited retinopathies

Shastry

1997

Cellular and Molecular Life Sciences (CMLS)

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In this paper, an attempt is made to highlight some of the recent developments in genetics to understand the group of inherited eye disorders referred to as retinitis pigmentosa (RP). Of the seven genes identified, six are expressed specifically in the photoreceptor cells and four encode the enzymes involved in the phototransduction pathway. A short discussion is presented of the tremendous phenotypic heterogeneity. An understanding of RP requires knowledge of other genetic and environmental factors as well as tests to measure the status of the patient's photoreceptor cells in various disease stages.

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Section: Reviewsmentioning

confidence: 99%

Signal transduction in the retina and inherited retinopathies

Shastry

1997

Cellular and Molecular Life Sciences (CMLS)

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“…In one patient a heterozygous point mutation at the splice donor site of intron 3 was identified leading to premature termination of translation of ETBR mRNA (Inoue et al 1998). Besides lossof-function mutations within the exons of the TSHR, rhodopsin, and the retinal G-protein-coupled receptor (RGR), disease-causing mutations were also found in the intron/exon boundaries of these genes (Macke et al 1993, Reig et al 1996, Gagne et al 1998, Morimura et al 1999. The impact of mutations affecting receptor mRNA maturation at the posttranscriptional stage is probably underestimated.…”

Section: Transcriptional Levelmentioning

confidence: 99%

The structural basis of g-protein-coupled receptor function and dysfunction in human diseases

Schöneberg

Schulz²,

Gudermann

Reviews of Physiology, Biochemistry and Pharmacology

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“…Transcriptional Expression of RHO Minigenes With a Cis-Acting Mutation in an Exon/Intron Boundary Splice Site Nearly 15% of adRP in a Spanish population are linked to mutations within the rhodopsin gene, two of which have been identified and linked to aberrant splicing [Reig et al, 1996;Martínez-Gimeno et al, 2000;Millá et al, 2002]. Here, we constructed minigenes containing the two previously identified cis-acting splicing mutations (g.3811A4G and g.5167G4T) in the RHO gene linked to adRP and a third reported mutation g.4335G4T linked to arRP [Rosenfeld et al, 1995;Greenberg et al, 2003] (Supplementary Fig.…”

Section: Screening For Mutations In Genes Associated With Adrpmentioning

confidence: 99%

“…More than 30 different mutations in the rhodopsin gene (MIM] 180380, accession ID U49742.1), accounting for 15% of adRP in a Spanish population, have been identified [Millá et al, 2002]. Two of these mutations, g.3811A4G and g.5167G4T, are singlenucleotide substitutions that affect the splicing signals of the intron 2/exon 3 and intron 4/exon 5 boundaries [Reig et al, 1996;Martínez-Gimeno et al, 2000]. These splicing mutations are associated with complete penetrance of adRP, while a similar type of mutation in the flanking sequences of exon 4 (g.4335G4T) has been found to be recessive [Rosenfeld et al, 1995;Greenberg et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa

et al. 2008

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Two types of mutations may lead to deficient pre-mRNA splicing: cis-acting mutations that inactivate a constitutive or alternative splice site within the pre-mRNA, and trans-acting mutations that affect the function of a basal factor of the splicing machinery. Autosomal dominant retinitis pigmentosa (adRP) is caused by mutations in at least 12 genes, with mutations in rhodopsin being the most prevalent. Two cis-acting mutations, g.3811A>G and g.5167G>T at the splice site in the rhodopsin gene (RHO; GenBank U49742.1) are linked to adRP in a Spanish population; while a cis-acting mutation, g.4335G>T, has been linked to recessive RP (arRP). Transcriptional expression analysis showed that the cis-acting splicing mutations linked to adRP promoted alternative splice sites, while the arRP linked mutation results in exclusion of exon 4. Trans-acting splicing mutations associated with adRP have also been found, and mutations in the pre-mRNA splicing factors PRPF3, PRPF8, PRPF31, and RP9 are associated with adRP in several populations. This report describes a new mutation in PRPF3 in a Spanish adRP family. We also investigated the transcriptional patterns in Epstein-Barr virus (EBV)-transformed lymphoblastoid cells from patients carrying a mutation in PRPF8. Despite the role of PRPF8 in the minor U12 splicing processes, microarray analysis revealed that mutations in PRPF8 not only did not result in significant differences in splicing efficiency of rhodopsin, but no apparent changes in expression of U12-type intron genes and splicing processes was observed. Microarray analysis revealed a panel of differentially expressed genes mapped to the RP loci, and future work will determine their role in RP.

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New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

Cited by 9 publications

References 9 publications

Signal transduction in the retina and inherited retinopathies

Signal transduction in the retina and inherited retinopathies

The structural basis of g-protein-coupled receptor function and dysfunction in human diseases

Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa

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