Literature DB >> 3839070

Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy.

K E Davies, P Briand, V Ionasescu, G Ionasescu, R Williamson, C Brown, C Cavard, L Cathelineau.   

Abstract

Cloned coding sequences for rat and human ornithine transcarbamylase (OTC) were obtained by screening a rat and a human cDNA library respectively with a synthetic oligonucleotide corresponding to 27 bases of the rat sequence. These clones, 1100 bp long for the rat clone and 1300 bp for the human, contain approximately 80% of the human OTC coding sequence. The OTC mRNA length determined by Northern blot analysis is 1700bp. The human OTC sequence was shown to be localised Xp11.4-Xp21 using somatic cell hybrids. There is a frequent RFLP revealed with the restriction enzyme MspI. OTC is located more closely to the Duchenne muscular dystrophy mutation than previously reported markers such as RC8 and L1.28, and therefore should prove useful in carrier detection and haplotype analysis of families carrying the mutation causing the disease.

Entities:  

Mesh:

Substances:

Year:  1985        PMID: 3839070      PMCID: PMC340981          DOI: 10.1093/nar/13.1.155

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  20 in total

1.  The catalytic rôle of carbamyl glutamate in citrulline biosynthesis.

Authors:  S GRISOLIA; P P COHEN
Journal:  J Biol Chem       Date:  1952-10       Impact factor: 5.157

2.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

3.  Gene amplification causes overproduction of the first three enzymes of UMP synthesis in N-(phosphonacetyl)-L-aspartate-resistant hamster cells.

Authors:  G M Wahl; R A Padgett; G R Stark
Journal:  J Biol Chem       Date:  1979-09-10       Impact factor: 5.157

4.  Increased amplification of pBR322 plasmid deoxyribonucleic acid in Escherichia coli K-12 strains RR1 and chi1776 grown in the presence of high concentrations of nucleoside.

Authors:  M V Norgard; K Emigholz; J J Monahan
Journal:  J Bacteriol       Date:  1979-04       Impact factor: 3.490

5.  Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

Authors:  E M Short; H O Conn; P J Snodgrass; A G Campbell; L E Rosenberg
Journal:  N Engl J Med       Date:  1973-01-04       Impact factor: 91.245

6.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

7.  Purification of biologically active globin messenger RNA by chromatography on oligothymidylic acid-cellulose.

Authors:  H Aviv; P Leder
Journal:  Proc Natl Acad Sci U S A       Date:  1972-06       Impact factor: 11.205

8.  Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

Authors:  A L Horwich; W A Fenton; K R Williams; F Kalousek; J P Kraus; R F Doolittle; W Konigsberg; L E Rosenberg
Journal:  Science       Date:  1984-06-08       Impact factor: 47.728

9.  Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.

Authors:  V Lindgren; B de Martinville; A L Horwich; L E Rosenberg; U Francke
Journal:  Science       Date:  1984-11-09       Impact factor: 47.728

10.  Selection of a cDNA clone which contains the complete coding sequence for the mature form of ornithine transcarbamylase from rat liver: expression of the cloned protein in Escherichia coli. Molecular cloning of rat ornithine transcarbamylase.

Authors:  P McIntyre; J F Mercer; M G Peterson; P Hudson; N Hoogenraad
Journal:  Eur J Biochem       Date:  1984-08-15
View more
  16 in total

1.  Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

Authors:  M E Pembrey; J M Old; J V Leonard; C H Rodeck; R Warren; K E Davies
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

2.  Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Authors:  X Y Hu; P N Ray; E G Murphy; M W Thompson; R G Worton
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

3.  Chromatin loop structure of the human X chromosome: relevance to X inactivation and CpG clusters.

Authors:  A H Beggs; B R Migeon
Journal:  Mol Cell Biol       Date:  1989-06       Impact factor: 4.272

4.  Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.

Authors:  C J Bertelson; J A Bartley; A P Monaco; C Colletti-Feener; K Fischbeck; L M Kunkel
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

5.  Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.

Authors:  E Wilichowski; M Krawczak; E Seemanova; F Hanefeld; J Schmidtke
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

Review 6.  Diagnosis of genetic disease using recombinant DNA.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

7.  Inhibitory activity of the equine infectious anemia virus major 5' splice site in the absence of Rev.

Authors:  W Tan; M Schalling; C Zhao; M Luukkonen; M Nilsson; E M Fenyö; G N Pavlakis; S Schwartz
Journal:  J Virol       Date:  1996-06       Impact factor: 5.103

8.  Human X chromosome markers and Duchenne muscular dystrophy.

Authors:  K E Davies; A Speer; F Herrmann; A W Spiegler; S McGlade; M H Hofker; P Briand; R Hanke; M Schwartz; V Steinbicker
Journal:  Nucleic Acids Res       Date:  1985-05-24       Impact factor: 16.971

9.  Identification of CpG islands around the DXS178 locus in the region of the X-linked agammaglobulinaemia gene locus in Xq22.

Authors:  M A O'Reilly; L A Alterman; S Malcolm; R J Levinsky; C Kinnon
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

10.  Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Authors:  H Dorkins; C Junien; J L Mandel; K Wrogemann; J P Moison; M Martinez; J M Old; S Bundey; M Schwartz; N Carpenter
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.