| 1. |
- Bergström, S, et al.
(författare)
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Cloning and sequencing of human kappa-casein cDNA.
- 1992
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Ingår i: DNA Sequence. - 1042-5179 .- 1029-2365. ; 3:4, s. 245-6
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Tidskriftsartikel (refereegranskat)abstract
- A cDNA encoding kappa-casein of human milk was cloned and sequenced. The kappa-casein cDNA was isolated from a lambda gt11 library generated from mRNA prepared from a mammary gland biopsy obtained from a lactating woman. The library was screened with polyclonal rabbit antibodies raised against purified native kappa-casein. The obtained nucleotide sequence contained an ORF sufficient to encode the entire amino acid sequence of a kappa-casein precursor protein consisting of 182 amino acids. This includes a tentative signal peptide of 20 amino acids and a processed protein of 162 amino acids.
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| 2. |
- Fava, Cristiano, et al.
(författare)
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Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes
- 2007
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Ingår i: DNA Sequence. - : Informa UK Limited. - 1029-2365 .- 1042-5179. ; 18:5, s. 395-399
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism, mild metabolic alkalosis, hypomagnesemia and hypocalciuria. Up to now, more than 100 mutations of the SLC12A3 gene have been described in GS patients. METHODS: We have collected 30 patients from Sweden with a clinical diagnosis of GS and undertaken a mutation screening by SSCP and successive sequencing of the 26 exons and intronic boundaries. Both mutations were identified in most (n = 28, 93%) and at least one mutation was identified in all patients. RESULTS: We found 22 different mutations evenly distributed throughout the gene, 11 of which have not been described previously. The new variants include 8 missense mutations (Glu68Lys, His69Asn, Argl45His, Vall53Met, Gly230Asp, Gly342Ala, Val677Leu and Gly867Ser), 1 insertion (c.834_835insG on exon 6) and 2 splice-site mutations (c.2667 + lT>G substitution in splicing donor site after exon 22, c.1569-1G>A substitution in the splicing acceptor site before exon 13). CONCLUSION: In Swedish patients with the clinical features of GS, disease-causing mutations in the SLC12A3 gene were identified in most patients. The spectrum of GS mutations is wide making full mutation screening of the SLC12A3 gene necessary to confirm the diagnosis.
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| 3. |
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| 4. |
- Sävenstrand, Helena, et al.
(författare)
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A Pisum sativum glyoxysomal malate dehydrogenase induced by cadmium exposure
- 2004
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Ingår i: DNA Sequence. - : Informa UK Limited. - 1042-5179 .- 1029-2365. ; 15:3, s. 206-208
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Tidskriftsartikel (refereegranskat)abstract
- The glyoxysomal malate dehydrogenase (gMDH) catalyses the formation of oxaloacetate from malate during beta-oxidation of fatty acids in the glyoxysome. A partial Pisum sativum L. (cv. Greenfeast) cDNA was first isolated from a suppression subtractive hybridisation cDNA library obtained from heavy metal stressed plants. The full length cDNA was then isolated by rapid amplification of cDNA ends. The translated sequence showed strong similarity to Cucumis sativus and Citrullus lanatus gMDH including a typical glyoxysome-targeting presequence comprising the PTS2 motif and a cleavage site for a cystein-directed protease. Exposure of pea plants to Cd2+ induced expression of the gMDH gene in mature pea leaves indicating that the enzyme is under environmental control in addition to the normal developmental regulation pattern.
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| 5. |
- Miranda-Vizuete, A., et al.
(författare)
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Cloning and sequencing of mouse glutaredoxin (grx) cDNA
- 1999
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Ingår i: Mitochondrial DNA. - : Informa Healthcare. - 1940-1736 .- 1940-1744. ; 10:3, s. 179-182
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Tidskriftsartikel (refereegranskat)abstract
- Glutaredoxins are small proteins (12 kDa) with a conserved active sequence Cys-Pro-Tyr(-Phe)-Cys that catalyse GSH-disulfide oxidoreduction reactions in the presence of NADPH and glutathione reductase. Many mammalian glutaredoxins have been characterized and human and pig cDNA sequence determined. However, no mouse glutaredoxin cDNA or protein sequence has yet been reported. We have cloned a cDNA from a mouse liver library that encodes the putative mouse glutaredoxin homologue. The deduced polypeptide sequence encodes a 107 amino acid protein displaying a high degree of homology with other members of the glutaredoxin family.
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| 6. |
- Miranda-Vizuete, Antonio, et al.
(författare)
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Genomic structure and chromosomal localization of human thioredoxin-like protein gene (txl)
- 2000
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Ingår i: Mitochondrial DNA. - : Informa Healthcare. - 1940-1736 .- 1940-1744. ; 10:6, s. 419-424
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Tidskriftsartikel (refereegranskat)abstract
- Human thioredoxin-like protein (txl) is a novel member of the expanding thioredoxin superfamily whose main characteristic is the presence, after the thioredoxin domain, of a C-terminal extension of 184 residues with no homology with any other protein in the databases. Txl is a cytosolic ubiquitously expressed protein and it has been copurified with a kinase of the STE20 family, which is proteolytically activated by caspases in apoptosis. However, no cellular function has yet been assigned to this protein. In the present study we report the genomic organization of the txl gene which encompasses approximately 36 kb organized in eight exons ranging from 96 bp to 303 bp. In contrast, intron sizes are much bigger ranging from 1.5 kb to 12 kb. Chromosomal localization of txl gene revealed that it maps at position 18q21, a region frequently affected in different human tumours. Furthermore, we have identified the putative homologues of txl in both Drosophila melanogaster and Caenorhabditis elegans that display much closer homology to the known thioredoxins than the human txl protein. Indeed, critical residues for optimal thioredoxin activity are present in both Drosophila and Caenorhabditis txl but absent in the human protein suggesting that txl might have evolved to carry out a function different from the general disulfide reductase typical of thioredoxins.
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| 7. |
- Miranda-Vizuete, Antonio, et al.
(författare)
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Identification of a novel thioredoxin-1 pseudogene on human chromosome 10
- 2000
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Ingår i: Mitochondrial DNA. - : Informa Healthcare. - 1940-1736 .- 1940-1744. ; 10:6, s. 411-414
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Tidskriftsartikel (refereegranskat)abstract
- Thioredoxin (Trx) is a small, ubiquitous protein of 12 kDa that acts as general dithiol-disulfide oxidoreductase via its conserved redox active site Trp-Cys-Gly-Pro-Cys which is located in a protrusion of the protein (Holmgren 1985). Mammalian cells contain two forms of thioredoxin: Trx1, a cytosolic enzyme able to translocate to the nucleus under certain stimuli and be secreted from the cells thus displaying cytokine-like properties and Trx2, a mitochondrial enzyme (Tagaya et al. 1989; Spyrou et al 1997). While many functions have been described for Trx1 for example antioxidant enzyme, modulator of transcription factors, electron donor for enzymes like ribonucleotide reductase and PAPS reductase, etc. (see introduction Spyrou et al. 1997), only an antioxidant function has been assigned to Trx2. Trx2 acts as a reductant of a mitochondrial thioredoxin-dependent peroxidase which protects cells against hydrogen peroxide treatment (Araki et al. 1999). Human Trx1 gene maps at chromosome 9q31 and several bands hybridize with a Trx1 probe in Southern blots suggesting the existence of Trx1 derived sequences in the human genome (Heppell-Parton et al. 1995; Kaghad et al. 1994). As only one active Trx1 gene has been described, the other hybridizing bands might correspond to different inactive pseudogenes (Kaghad et al. 1994), but only one Trx1 pseudogene has been described so far (GenBank accession number: AF146023 (Tonissen and Wells 1991)). We report here the sequence of a second Trx1 retrotranscribed pseudogene and propose the nomenclature wTrx1-1 and wTrx1-2.
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| 8. |
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| 9. |
- Ujvari, Beata, et al.
(författare)
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Complete mitochondrial genome of the frillneck lizard (Chlamydosaurus kingii, Reptilia; Agamidae), another squamate with two control regions
- 2008
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Ingår i: Mitochondrial DNA. - : Informa UK Limited. - 1940-1744. ; 19:5, s. 465-470
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Tidskriftsartikel (refereegranskat)abstract
- Using PCR, the complete mitochondrial genome was sequenced in three frillneck lizards (Chlamydosaurus kingii). The mitochondria spanned over 16,761 bp. As in other vertebrates, two rRNA genes, 22 tRNA genes and 13 protein coding genes were identified. However, similar to some other squamate reptiles, two control regions (CRI and CRII) were identified, spanning 801 and 812 bp, respectively. Our results were compared with another Australian member of the family Agamidae, the bearded dragon (Pogana vitticeps). The overall base composition of the light-strand sequence largely mirrored that observed in P. vitticeps. Furthermore, similar to P. vitticeps, we observed an insertion 801 bp long between the ND5 and ND6 genes. However, in contrast to P. vitticeps we did not observe a conserved sequence block III region. Based on a comparison among the three frillneck lizards, we also present data on the proportion of variable sites within the major mitochondrial regions.
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| 10. |
- Zaphiropoulos, PG
(författare)
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A map of the mouse Cyp3a locus
- 2003
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Ingår i: DNA sequence : the journal of DNA sequencing and mapping. - : Informa UK Limited. - 1042-5179. ; 14:3, s. 155-162
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Tidskriftsartikel (refereegranskat)
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