A major polymorphism in the rat SA gene caused by the insertion of a LINE element

Frantz, Simon; Thiara, Amrik S.; Lodwick, David; Samani, Nilesh J.

doi:10.1007/s003359900256

Cited by 5 publications

(4 citation statements)

References 9 publications

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“…4a). Intron A of the SHR SA gene contains a LINE insertion (19). Aside from a difference in fragment size between SHR and WKY of 1.3 kb with some primer pairs as a consequence of this, we found no other difference to suggest exon duplication at the DNA level in the WKY rat.…”

Section: Resultsmentioning

confidence: 60%

Exon repetition in mRNA

Frantz

Thiara²,

Lodwick³

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

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The production of different transcripts (transcript heterogeneity) is a feature of many genes that may result in phenotypic variation. Several mechanisms, that occur at both the DNA and RNA level have been shown to contribute to this transcript heterogeneity in mammals, all of which involve either the rearrangement of sequences within a genome or the use of alternative signals in linear, contiguous DNA or RNA. Here we describe tissue-specific repetition of selective exons in transcripts of a rat gene (SA) with a normal exon-intron organization. We conclude that nonlinear mRNA processing can generate tissue-specific transcripts.

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Section: Resultsmentioning

confidence: 60%

Exon repetition in mRNA

Frantz

Thiara²,

Lodwick³

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

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“…Ten YACs encompassing at least 4 Mb were explored and one identified a divergent hybridization pattern in a patient and his mother. The characterization of the molecular mechanism revealed an L1 retrotransposition, located in intron 1 They can occur either as polymorphisms [12][13][14] or as disease-associated rearrangements [15][16][17][18][19][20] in exons and introns. In the spastic and beige mouse mutants, an intronic L1 insertion leads to aberrant splicing of the mature mRNA (refs 18,20).…”

Section: Discussionmentioning

confidence: 99%

Positional cloning of the gene for X-linked retinitis pigmentosa 2

et al. 1998

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X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively. The RP3 gene was recently isolated by positional cloning, whereas the RP2 locus was mapped genetically to a 5-cM interval. We have screened this region for genomic rearrangements by the YAC representation hybridization (YRH) technique and detected a LINE1 (L1) insertion in one XLRP patient. The L1 retrotransposition occurred in an intron of a novel gene that consisted of five exons and encoded a polypeptide of 350 amino acids. Subsequently, nonsense, missense and frameshift mutations, as well as two small deletions, were identified in six additional patients. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Our data provide evidence that mutations in this gene, designated RP2, are responsible for progressive retinal degeneration.

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“…16 Our analysis finds that this difference is sustained across the 3 SHR substrains examined. This gene has been thoroughly studied because of its differential expression, its position in a wellsubstantiated SHR BP QTL, [17][18][19][20][21] evidence of polymorphism in the Sa locus between SHR and WKY, 22,23 and evidence from human studies suggesting involvement in BP determination. 24 -26 Recent rat congenic studies have not found support for the involvement of Sa in BP regulation.…”

Section: Discussionmentioning

confidence: 99%

Combined Genealogical, Mapping, and Expression Approaches to Identify Spontaneously Hypertensive Rat Hypertension Candidate Genes

et al. 2005

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Abstract-Allelic expression in genes has become recognized as a heritable trait by which phenotypes are generated. We have examined gene expression in the rat kidney using genome-wide microarray technology (Affymetrix). Gene expression was determined across 4 rat strains, 3 hypertensive spontaneously hypertensive rat (SHR) substrains (SHR-A3, SHR-B2, and SHR-C), and a normotensive strain (Wistar-Kyoto [WKY]). Expression measurements were made in multiple animals from all strains at 4 time points (4 weeks, 8 weeks, 12 weeks, and 18 weeks of age), covering the prehypertensive period in SHR (4 weeks), and the period of rapidly rising blood pressure (8 and 12 weeks) and of sustained hypertension (18 weeks). Regression analysis revealed a close relationship across all strains during the first 3 time points, after which SHR-A3 became a substantial outlier. SHR-B2 and SHR-C demonstrated a very close relationship in gene expression at all times but also showed increased differences compared with the other strains at 18 weeks of age. We identified genes that were consistently different in expression, comparing all SHR substrains at each time point with WKY. The resulting list of genes was compared with blood pressure quantitative trait loci reported for SHR to refine a number of genes consistently differentially expressed between SHR substrains and WKY, persistently differentially expressed across multiple time points, and located in SHR blood pressure-determinative regions of the genome. Genealogical relationships and SHR substrain intercrosses suggest that genes responsible for heritable hypertension in SHR are shared across SHR substrains.

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A major polymorphism in the rat SA gene caused by the insertion of a LINE element

Cited by 5 publications

References 9 publications

Exon repetition in mRNA

Exon repetition in mRNA

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Combined Genealogical, Mapping, and Expression Approaches to Identify Spontaneously Hypertensive Rat Hypertension Candidate Genes

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