Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Nature Genetics

Volumn 28, Issue 3, 2001, Pages 223-231

  Spelbrink, Johannes N ^a   Li, Fang Yuan ^b   Tiranti, Valeria ^c   Nikali, Kaisu ^d   Yuan, Qiu Ping ^b   Tariq, Muhammed ^e   Wanrooij, Sjoerd ^a   Garrido, Nuria ^a   Comi, Giacomo ^f   Morandi, Lucia ^c   Santoro, Lucio ^g   Toscano, Antonio ^h   Fabrizi, Gian Maria ⁱ   Somer, Hannu ^j   Croxen, Rebecca ^k   Beeson, David ^k   Poulton, Joanna ^l   Suomalainen, Anu ^d,m   Jacobs, Howard T ^a,n   Zeviani, Massimo ^c   Larsson, Catharina ^b   more..

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e PAKISTAN INSTITUTE OF MEDICAL SCIENCES   (Pakistan)

^f UNIVERSITY OF MILAN   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h UNIVERSITY OF MESSINA   (Italy)

ⁱ UNIVERSITY OF VERONA   (Italy)

^j UNIVERSITY OF HELSINKI   (Finland)

^k JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^l UNIVERSITY OF OXFORD   (United Kingdom)

^m MCGILL UNIVERSITY   (Canada)

ⁿ UNIVERSITY OF GLASGOW   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE; MITOCHONDRIAL DNA;

AMINO ACID SEQUENCE; ARTICLE; DNA REPLICATION; EXTERNAL OPHTHALMOPLEGIA; GENE DELETION; GENE MUTATION; HUMAN; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

AMINO ACID SEQUENCE; CELL COMPARTMENTATION; CHROMOSOMES, HUMAN, PAIR 10; DNA HELICASES; DNA PRIMASE; DNA, MITOCHONDRIAL; FEMALE; FINLAND; HETEROZYGOTE; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PAKISTAN; PEDIGREE; PROTEIN CONFORMATION; PROTEIN TRANSPORT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

MAMMALIA;

EID: 0034938364     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/90058     Document Type: Article

References (49)

1. Cloning and sequencing of the nuclear gene MIP 1 encoding the catalytic subunit of the yeast mitochondrial DNA polymerase
2. The tamas gene, identified as a mutation that disrupts larval behavior in Drosophila melanogaster, codes for the mitochondrial DNA polymerase catalytic subunit (DNApol-gamma125)
3. The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance
4. Replication of animal mitochondrial DNA
5. Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA
6. Mitochondrial DNA polymerases from yeast to man: A new family of polymerases
7. Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the expressed sequence tags database
8. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
9. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
10. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
11. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
12. Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24
13. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
14. Multiple mtDNA deletions: Clinical and molecular correlations
15. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
16. An autosomal locus predisposing to deletions of mitochondrial DNA
17. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
18. Role of adenine nucleotide translocator 1 in mtDNA maintenance
19. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
20. The bacterial replicative helicase DnaB evolved from a RecA duplication
21. The I.M.A.G.E. consortium: An integrated molecular analysis of genomes and their expression
22. Characterization and crystallization of the helicase domain of bacteriophage T7 gene 4 protein
23. Human mitochondria and mitochondrial genome function as a single dynamic cellular unit
24. In situ localization of mitochondrial DNA replication in intact mammalian cells
25. Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell
26. In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
27. Biochemical analysis of mutant T7 primase/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding
28. DNA helicase from mammalian mitochondria
29. Characterization of a novel human putative mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4
30. The linker region between the helicase and primase domains of the bacteriophage T7 gene 4 protein is critical for hexamer formation
31. Crystal structure of T7 gene 4 ring helicase indicates a mechanism for sequential hydrolysis of nucleotides
32. Oligomeric structure of bacteriophage T7 DNA primase/helicase proteins
33. Cooperative interactions of nucleotide ligands are linked to oligomerization and DNA binding in bacteriophage T7 gene 4 helicases
34. Organization and evolution of bacterial and bacteriophage primase-helicase systems
35. Isolation of morphologically intact mitochondrial nucleoids from the yeast, Saccharomyces cerevisiae
36. The division apparatus of plastids and mitochondria
37. In organelle formaldehyde crosslinking of proteins to mtDNA: Identification of bifunctional proteins
38. Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells
39. Quantitation of mitochondrial DNA in human lymphoblasts by a competitive polymerase chain reaction method: Application to the study of inhibitors of mitochondrial DNA content
40. Crystal structure of a bacteriophage T7 DNA replication complex at 2.2 A resolution
41. Crystal structure of the helicase domain from the replicative helicase-primase of bacteriophage T7
42. Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states
43. Mutation of POLG is associated with autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions
44. Positional cloning of the Werner's syndrome gene
45. Extrachromosomal rDNA circles - A cause of aging in yeast
46. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
47. Cleavage of structural proteins during the assembly of the head of bacteriophage T4