Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.30.1 (S1 nuclease)
3,660 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several clones were isolated from a rat genomic library in order to further characterize a region of variability within the third membrane-spanning region of the fourth motif (IVS3) of the L-type voltage-dependent calcium channel. We report here that this diversity arises from alternative splicing of a primary transcript containing a single pair of adjacent exons each encoding a unique sequence for the IVS3 region. Definitive proof of a mutually exclusive splicing mechanism was obtained by genomic mapping of flanking upstream and downstream exons and by extensive sequence analysis of the relevant exon/intron boundaries. S1 nuclease protection experiments revealed that both variant forms of the IVS3 were equally expressed in newborn and fetal rat heart, whereas only a single isoform predominated in adult rat heart. The results demonstrate the existence of an important developmentally regulated switch mediated by alternatively spliced exons in cardiac tissue at a time when major changes in excitation occur.
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PMID:Mutually exclusive exon splicing of the cardiac calcium channel alpha 1 subunit gene generates developmentally regulated isoforms in the rat heart. 131 Nov 2

We purified human poly(A)+ RNA from 11 individuals to assess the regional distribution of CD4 and CD4-related mRNA transcripts in human brain and in peripheral tissues by Northern blot hybridization. A 3.0 kb CD4 mRNA transcript was expressed in all brain areas and several peripheral tissues examined. A second CD4-related 1.8 kb mRNA species showed an uneven distribution in the brain with cortical regions possessing highest levels and basal ganglia, thalamus, cerebellum and spinal cord containing relatively lower amounts. Messenger RNA transcripts for CD8, a T cell specific marker, were not detectable in human brain by Northern analysis, yet were as abundant as CD4 in spleen. The expression of the 1.8 kb mRNA was tissue specific as it was not observed in peripheral tissues such as spleen, adrenal, colon, or lung, nor was it found in the choroid plexus, dorsal root ganglion and human neuronal (SY5Y) or astroglial (N132N1) cell lines. Blot hybridization and S1 nuclease protection analysis of poly(A)+ RNA with selective probes derived from CD4 indicated that the 1.8 kb mRNA transcript is truncated, lacking the extracellular protein coding region of CD4, and may in fact be a unique transcript from the CD4 gene locus rather than an alternatively spliced or processed CD4 mRNA.
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PMID:Regional distribution and partial molecular characterization of CD4-related mRNA in human brain and peripheral tissues. 167 32

We recently reported the isolation and sequencing of two classes of human alpha 2(VI) collagen cDNA clones which share common sequences for the first two-thirds of the molecule but contain a different sequence of either 607 or 887 base pairs at their 3' ends (Chu, M.-L., Pan, T.-C., Conway, D., Kuo, H.-J., Glanville, R. W., Timpl, R., Mann, K., and Deutzmann, R. (1989) EMBO J. 8, 1939-1946). In the present study, we report the sequence of another cDNA clone, which is identical to one class of the previously isolated cDNAs except for a 293-base pair insertion between the common and variable regions. Together, the different classes of cDNAs, referred to as the alpha 2C2, alpha 2C2a, and alpha 2C2a' predict three variant alpha 2 chains of type VI collagen with carboxyl globular domains of 429, 328, and 238 amino acid residues, respectively. In order to explore the mechanisms by which the variations are generated, we isolated and characterized the 3' end of the human alpha 2(VI) collagen gene. The carboxyl globular domain was found to be encoded by six exons which appear to delineate its structural subdomains. The exon/intron arrangement clearly demonstrated that the cDNA variants arose from alternative splicing events by mutually exclusive utilization of the last two exons in conjunction with the selective usage of an internal splice acceptor site in the penultimate exon. The presence of the corresponding mature mRNA transcripts (3.2-3.5 kilobase pairs (kb] in human fibroblasts was shown by Northern blot hybridization, S1 nuclease protection assay, and the polymerase chain reaction. The results indicated that the alpha 2C2 mRNA is the major species, whereas the alpha 2C2a and alpha 2C2a' are the minor forms. Northern blot hybridization also revealed an alpha 2(VI) collagen mRNA of 6.0 kb. This mRNA retained a 2.3-kb intron located between the two alternatively spliced exons and predicted a translational product that is the same as the alpha 2C2a variant.
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PMID:Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini. 169 Jul 28

We have used an S1 nuclease protection strategy to measure alternatively spliced amyloid precursor protein (APP) mRNAs associated with Alzheimer's disease (AD) to determine whether the expression of either one or more of the transcripts correlate with observed amyloid plaque pathology. Comparison of AD with normal cortex reveals that increasing plaque density parallels an increase in the fraction of APP-695 and a corresponding decrease in APP-770 and 751 mRNA fractions. A specific increase of APP-695, the protease inhibitor-lacking APP RNA form, in those brain regions most involved with amyloid plaque formation, suggests that an imbalance in the protease inhibitor is potentially significant in the disease. These data are consistent with cellular/tissue region-specific regulation of alternative splicing accounting for AD-related changes in the expression of APP mRNA forms.
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PMID:Quantitative measurement of alternatively spliced amyloid precursor protein mRNA expression in Alzheimer's disease and normal brain by S1 nuclease protection analysis. 172 74

The chicken gene alpha fTM encoding the alpha-tropomyosin of fast-twitch muscle fibers (alpha fTM) covers 20 kb and consists of 15 exons. From this gene, three types of mature transcripts (1.3 kb, 2 kb and 2.8 kb) are expressed through the use of alternative promoters, alternatively spliced exons and multiple 3' end processing. Northern analysis and S1 mapping have shown that the 1.3-kb transcript (exons 1a, 2b, 3, 4, 5, 6b, 7, 8, 9a-9b) is expressed in fast-twitch skeletal muscles and that 2-kb transcripts are expressed in smooth muscle (exons 1a, 2a, 3, 4, 5, 6b, 7, 8, 9d) and in fibroblasts (exons 1a, 2b, 3, 4, 5, 6a or 6b, 7, 8, 9d). These 2-kb transcripts encode distinct proteins which we have identified by two-dimensional (2D) gel electrophoresis. The 2.8-kb transcript which has not been so far characterized in birds is expressed in brain (exons 1b, 3, 4, 5, 6b, 7, 8, 9c-9d). This transcript has been characterized by a cDNA polymerase chain reaction assay and by S1 nuclease mapping. It produces a major TM isoform of chick brain which we have identified by 2D gels.
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PMID:The chicken gene encoding the alpha isoform of tropomyosin of fast-twitch muscle fibers: organization, expression and identification of the major proteins synthesized. 174 94

Sequence analysis of cDNA clones coding for rat tropoelastin previously has identified two variants that potentially corresponded to alternatively spliced tropoelastin mRNAs (Pierce et al., 1990). We have now used S1 nuclease protection analysis of total RNA from aorta, skin and lungs of 10-day and 6-week old rats to localize all sites of alternative splicing in the tropoelastin mRNA and to examine tissue-specific and developmental regulation of the use of these sites. This analysis revealed multiple sites of alternative splicing involving rat tropoelastin coding sequences corresponding to exons 12 through 15 of the bovine tropoelastin gene and a single site of alternative splicing at sequences corresponding to exon 33. Messenger RNAs from all three tissues at both developmental stages were alternatively spliced at the same sites; there was no evidence for the use of an alternative splice site unique to a particular tissue or developmental stage. However, both tissue-specific and developmentally regulated differences were apparent in the proportion of rat tropoelastin mRNA alternatively spliced at exon 33. Tropoelastin mRNA from the aorta and lungs of neonatal rats was alternatively spliced at exon 33 ten time more frequently than tropoelastin mRNA from skin. Between 10 days and 6 weeks of development, the use of this site of alternative splicing decreased by twenty-fold in RNA from skin, ten-fold in RNA from lungs and two-fold in RNA from aorta. In contrast, alternative splicing at exons 12 through 15 occurred in a small percentage of the mRNA and use of these sites exhibited minimal tissue-specific differences or developmental regulation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Alternative splicing of rat tropoelastin mRNA is tissue-specific and developmentally regulated. 181 Nov 66

An S1 nuclease protection assay was designed to study the splicing pattern of the alternatively spliced beta A4 amyloid gene (APP gene) of Alzheimer's disease (AD). We determined the splicing pattern of the APP gene in fetal, adult, aged adult and AD human cortex. The results suggest that alternative splicing of the APP gene in AD is not significantly different from age-matched controls, but distinct from the developing fetal brain.
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PMID:Alternative splicing of the beta A4 amyloid gene of Alzheimer's disease in cortex of control and Alzheimer's disease patients. 185 28

The genomic DNA encoding human muscle phosphofructokinase (HPFK-M) exons VII to X has been cloned and the coding regions have been sequenced. The intron/exon boundaries are located at the same positions as those identified for the rabbit phosphofructokinase-M gene (Lee, C. -P., Kao, M. -C., French, B. A., Putney, S. D., and Chang, S. H. (1987) J. Biol. Chem. 262, 4195-4199). A HPFK-M cDNA clone lacking the sequences corresponding to exon IX was isolated from a human fibroblast (IMR-90) library, suggesting that the HPFK-M transcript may be alternatively spliced. Exon IX is 93 nucleotides in length, and the absence of this sequence from the HPFK-M transcript would generate an RNA coding for a HPFK-M-related polypeptide lacking 31 amino acids compared with the HPFK-M polypeptide. HPFK-M transcripts approximately 3.0 kilobases in length are expressed in a tissue-specific manner with high levels in cell lines and skeltal muscle tissue and very low levels in peripheral blood mononuclear cells and liver tissue. Characterization of the structure of these HPFK-M transcripts by nuclease S1 and polymerase chain reaction analysis demonstrated that all the cell lines and tissues examined expressed the alternatively spliced transcript in addition to the transcript coding for the enzymatically functional HPFK-M polypeptide.
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PMID:Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. 214 May 67

Three alleles of the Drosophila melanogaster vermilion (v) gene are suppressed by recessive mutations at the suppressor of sable [su(s)], gene. Previous work has established that these alleles have identical insertions of the 412 retrotransposon in the 5'-untranslated region of the gene. Despite the transposon insertion in an exon, v mutants accumulate trace amounts of apparently wild-type-sized transcripts in a su(s)+ background, and the level of v transcript accumulation is increased by su(s) mutations. Here, we have characterized transcripts from a suppressible v mutant in both su(s)+ and su(s)- backgrounds by S1 nuclease protection experiments and sequence analysis of polymerase chain reaction (PCR) generated cDNA clones. We find that transposon sequences are imprecisely eliminated from v mutant transcripts by splicing at donor and acceptor sites located near the ends of the 412 retrotransposon. Four different 5' donor sites are alternatively spliced to a single 3' acceptor site. The implications of this finding are discussed in relation to possible functions of the su(s)+ gene product.
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PMID:A retrotransposon 412 insertion within an exon of the Drosophila melanogaster vermilion gene is spliced from the precursor RNA. 216 42

We have isolated and sequenced full-length cDNA clones from a rabbit uterine library which encode the smooth muscle sarco(endo)plasmic reticulum Ca2+-ATPase. These cDNAs resulted from an alternative splice of the cardiac/slow-twitch Ca2+-ATPase gene transcript, and encoded a protein identical to rabbit cardiac/slow-twitch Ca2+-ATPase except for the replacement of the carboxyl-terminal four amino acids with an extended and relatively hydrophobic sequence of 49 amino acids. This cDNA was virtually identical to the alternatively spliced product of the cardiac/slow-twitch Ca2+-ATPase gene recently identified in human kidney (Lytton, J., and MacLennan, D. H. (1988) J. Biol. Chem. 263, 15024-15031) and rat non-muscle tissues (Gunteski-Hamblin, A.-M., Greeb, J., and Shull, G. (1988) J. Biol. Chem. 263, 15032-15040). S1 nuclease mapping of total cellular RNA from a variety of tissues demonstrated that cardiac muscle expressed the cardiac/slow-twitch isoform almost exclusively, most smooth muscle and non-muscle tissues expressed the alternatively spliced smooth/non-muscle isoform almost exclusively, and a few tissues expressed both isoforms in varying amounts. Thus, regulation of alternative splicing of the cardiac/slow-twitch Ca2+-ATPase gene transcript is tissue-specific. The expression of the smooth/non-muscle isoform in every tissue tested supports the hypothesis that this molecule represents the "housekeeping" endoplasmic reticulum Ca2+-ATPase.
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PMID:Molecular cloning of the mammalian smooth muscle sarco(endo)plasmic reticulum Ca2+-ATPase. 252 89


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