Literature DB >> 6300847

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

D J Jolly, H Okayama, P Berg, A C Esty, D Filpula, P Bohlen, G G Johnson, J E Shively, T Hunkapillar, T Friedmann.   

Abstract

We have cloned a full-length 1.6-kilobase cDNA of a human mRNA coding for hypoxanthine phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) into a simian virus 40-based expression vector and have determined its full nucleotide sequence. The inferred amino acid sequence agrees with a partial amino acid sequence determined for authentic human HPRT protein. Transfection of HPRT-deficient mouse LA9 cells with the purified plasmid leads to the expression of human HPRT enzyme activity in cells stably transfected and selected for enzyme activity in hypoxanthine/aminopterin/thymidine medium.

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Year:  1983        PMID： 6300847      PMCID： PMC393401          DOI： 10.1073/pnas.80.2.477

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  35 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Amino acid sequence studies on ten ribosomal proteins of Escherichia coli with an improved sequenator equipped with an automatic conversion device.

Authors:  B Wittmann-Liebold
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1973 Oct-Nov

3.  Nature of Col E 1 plasmid replication in Escherichia coli in the presence of the chloramphenicol.

Authors:  D B Clewell
Journal:  J Bacteriol       Date:  1972-05       Impact factor: 3.490

4.  The chromosome of bacteriophage T5. I. Analysis of the single-stranded DNA fragments by agarose gel electrophoresis.

Authors:  G S Hayward; M G Smith
Journal:  J Mol Biol       Date:  1972-02-14       Impact factor: 5.469

5.  Supercoiled circular DNA-protein complex in Escherichia coli: purification and induced conversion to an opern circular DNA form.

Authors:  D B Clewell; D R Helinski
Journal:  Proc Natl Acad Sci U S A       Date:  1969-04       Impact factor: 11.205

6.  A dye-buoyant-density method for the detection and isolation of closed circular duplex DNA: the closed circular DNA in HeLa cells.

Authors:  R Radloff; W Bauer; J Vinograd
Journal:  Proc Natl Acad Sci U S A       Date:  1967-05       Impact factor: 11.205

7.  In vitro construction of bacteriophage lambda carrying segments of the Escherichia coli chromosome: selection of hybrids containing the gene for DNA ligase.

Authors:  J R Cameron; S M Panasenko; I R Lehman; R W Davis
Journal:  Proc Natl Acad Sci U S A       Date:  1975-09       Impact factor: 11.205

8.  A membrane-filter technique for the detection of complementary DNA.

Authors:  D T Denhardt
Journal:  Biochem Biophys Res Commun       Date:  1966-06-13       Impact factor: 3.575

9.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

10.  Nucleotide sequence of the rightward operator of phage lambda.

Authors:  T Maniatis; A Jeffrey; D G Kleid
Journal:  Proc Natl Acad Sci U S A       Date:  1975-03       Impact factor: 11.205
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  83 in total

1.  X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

Authors:  A L Christianson; R E Stevenson; C H van der Meyden; J Pelser; F W Theron; P L van Rensburg; M Chandler; C E Schwartz
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

2.  Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

Authors:  R B Gordon; D G Sculley; P A Dawson; I R Beacham; B T Emmerson
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Characterization of three new deletions at the 5' end of the HPRT structural gene.

Authors:  M Wehnert; F H Herrmann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

Authors:  T Lightfoot; R Joshi; G Nuki; F F Snyder
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

5.  Dominant positive and negative selection using a hygromycin phosphotransferase-thymidine kinase fusion gene.

Authors:  S D Lupton; L L Brunton; V A Kalberg; R W Overell
Journal:  Mol Cell Biol       Date:  1991-06       Impact factor: 4.272

6.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

Authors:  F F Snyder; J E Joyce; T Carter-Edwards; R Joshi; H L Rylance; R C Wallace; G Nuki
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

7.  Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).

Authors:  Y Yamada; H Goto; S Tamura; N Ogasawara
Journal:  Jpn J Hum Genet       Date:  1993-12

8.  Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

Authors:  T R Skopek; L Recio; D Simpson; L Dallaire; S B Melancon; H Ogier; J P O'Neill; M T Falta; J A Nicklas; R J Albertini
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

9.  Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

Authors:  J M Wilson; G E Tarr; W N Kelley
Journal:  Proc Natl Acad Sci U S A       Date:  1983-02       Impact factor: 11.205

10.  Molecular cloning and cell cycle-specific regulation of a functional human thymidine kinase gene.

Authors:  H D Bradshaw
Journal:  Proc Natl Acad Sci U S A       Date:  1983-09       Impact factor: 11.205
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