Literature DB >> 1757091

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.

S Marzuki1, A S Noer, P Lertrit, D Thyagarajan, R Kapsa, P Utthanaphol, E Byrne.   

Abstract

A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1757091     DOI： 10.1007/bf00206061

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  22 in total

1.  Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence.

Authors:  S Ikebe; M Tanaka; K Ohno; W Sato; K Hattori; T Kondo; Y Mizuno; T Ozawa
Journal:  Biochem Biophys Res Commun       Date:  1990-08-16       Impact factor: 3.575

2.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors:  I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

3.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

4.  Mitochondrial inheritance in a mitochondrially mediated disease.

Authors:  J Egger; J Wilson
Journal:  N Engl J Med       Date:  1983-07-21       Impact factor: 91.245

5.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

6.  A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

Authors:  A S Noer; H Sudoyo; P Lertrit; D Thyagarajan; P Utthanaphol; R Kapsa; E Byrne; S Marzuki
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

7.  Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

Authors:  E Byrne; I Trounce; S Marzuki; X Dennett; S F Berkovic; S Davis; M Tanaka; T Ozawa
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

8.  Progression from MERRF to MELAS phenotype in a patient with combined respiratory complex I and IV deficiencies.

Authors:  E Byrne; I Trounce; X Dennett; B Gilligan; J B Morley; S Marzuki
Journal:  J Neurol Sci       Date:  1988-12       Impact factor: 3.181

9.  Studies on transformation of Escherichia coli with plasmids.

Authors:  D Hanahan
Journal:  J Mol Biol       Date:  1983-06-05       Impact factor: 5.469

10.  Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. A case report with biochemical studies.

Authors:  E Byrne; X Dennett; I Trounce; J Burdon
Journal:  J Neurol Sci       Date:  1985-12       Impact factor: 3.181
View more
  31 in total

1.  Mitochondrial DNA recombination-no need to panic.

Authors:  V Macaulay; M Richards; B Sykes
Journal:  Proc Biol Sci       Date:  1999-10-22       Impact factor: 5.349

2.  Human mtDNA haplogroups associated with high or reduced spermatozoa motility.

Authors:  E Ruiz-Pesini; A C Lapeña; C Díez-Sánchez; A Pérez-Martos; J Montoya; E Alvarez; M Díaz; A Urriés; L Montoro; M J López-Pérez; J A Enríquez
Journal:  Am J Hum Genet       Date:  2000-08-09       Impact factor: 11.025

3.  The sequence of human mtDNA: the question of errors versus polymorphisms.

Authors:  N Howell; D A McCullough; I Kubacka; S Halvorson; D Mackey
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

4.  The diversity present in 5140 human mitochondrial genomes.

Authors:  Luísa Pereira; Fernando Freitas; Verónica Fernandes; Joana B Pereira; Marta D Costa; Stephanie Costa; Valdemar Máximo; Vincent Macaulay; Ricardo Rocha; David C Samuels
Journal:  Am J Hum Genet       Date:  2009-05-07       Impact factor: 11.025

Review 5.  The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.

Authors:  Hans-Jürgen Bandelt; Anita Kloss-Brandstätter; Martin B Richards; Yong-Gang Yao; Ian Logan
Journal:  J Hum Genet       Date:  2013-12-05       Impact factor: 3.172

6.  Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

Authors:  M J Rieder; S L Taylor; V O Tobe; D A Nickerson
Journal:  Nucleic Acids Res       Date:  1998-02-15       Impact factor: 16.971

7.  Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis.

Authors:  R M Chalmers; N Robertson; H Kellar-Wood; D A Compston; A E Harding
Journal:  J Neurol       Date:  1995-05       Impact factor: 4.849

8.  Nuclear counterparts of the cytoplasmic mitochondrial 12S rRNA gene: a problem of ancient DNA and molecular phylogenies.

Authors:  A C van der Kuyl; C L Kuiken; J T Dekker; W R Perizonius; J Goudsmit
Journal:  J Mol Evol       Date:  1995-06       Impact factor: 2.395

9.  Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors:  D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

10.  A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.

Authors:  Naihong Yan; Shuping Cai; Bo Guo; Yi Mou; Jing Zhu; Jun Chen; Ting Zhang; Ronghua Li; Xuyang Liu
Journal:  Mol Vis       Date:  2010-08-25       Impact factor: 2.367
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.