Detection of mitochondrial DNA (mtDNA) mutations.
Mitochondria
Mutations
Next generation sequencing
Real-time PCR
mtDNA
Journal
Methods in cell biology
ISSN: 0091-679X
Titre abrégé: Methods Cell Biol
Pays: United States
ID NLM: 0373334
Informations de publication
Date de publication:
2020
2020
Historique:
entrez:
19
3
2020
pubmed:
19
3
2020
medline:
29
12
2020
Statut:
ppublish
Résumé
The maternally inherited mitochondrial DNA (mtDNA) is a circular 16,569bp double stranded DNA that encodes 37 genes, 24 of which (2 rRNAs and 22 tRNAs) are necessary for transcription and translation of 13 polypeptides that are all subunits of respiratory chain. Pathogenic mutations in mtDNA cause respiratory chain dysfunction, and are the underlying defect in an ever-increasing number of mtDNA-related encephalomyopathies with distinct phenotypes. In this chapter, we present an overview of mtDNA mutations and describe the molecular techniques currently employed in our laboratory to detect two types of mtDNA mutations: single-large-scale rearrangements and point mutations.
Identifiants
pubmed: 32183969
pii: S0091-679X(19)30139-6
doi: 10.1016/bs.mcb.2019.11.009
pmc: PMC7772943
mid: NIHMS1622166
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
383-400Subventions
Organisme : NIGMS NIH HHS
ID : SC3 GM116669
Pays : United States
Informations de copyright
© 2020 Elsevier Inc. All rights reserved.
Références
Nature. 1990 Dec 13;348(6302):651-3
pubmed: 2102678
Am J Med Genet. 2001 Spring;106(1):18-26
pubmed: 11579421
Methods Cell Biol. 2007;80:437-63
pubmed: 17445708
Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13534-9
pubmed: 21808029
Trends Biochem Sci. 2000 Nov;25(11):555-60
pubmed: 11084368
Mol Cell Biol. 2011 Dec;31(24):4994-5010
pubmed: 22006021
Am J Hum Genet. 2002 Sep;71(3):679-83
pubmed: 12152148
Am J Hum Genet. 1999 Aug;65(2):474-82
pubmed: 10417290
Methods Mol Biol. 2002;197:55-74
pubmed: 12013813
J Cell Biol. 2008 Jun 30;181(7):1117-28
pubmed: 18573913
Am J Hum Genet. 1990 Mar;46(3):428-33
pubmed: 2137962
Ann Neurol. 2004 Nov;56(5):662-9
pubmed: 15389892
Cell. 1990 Jun 15;61(6):931-7
pubmed: 2112427
Am J Hum Genet. 1992 Apr;50(4):852-8
pubmed: 1550128
Lancet. 1997 Nov 1;350(9087):1299-300
pubmed: 9357417
N Engl J Med. 1999 Sep 30;341(14):1037-44
pubmed: 10502593
Neuromuscul Disord. 2003 Dec;13(10):848-53
pubmed: 14719536
Prenat Diagn. 2000 May;20(5):426-31
pubmed: 10820414
Methods Mol Biol. 2016;1351:3-17
pubmed: 26530670
Nat Genet. 1993 Jul;4(3):289-94
pubmed: 7689389
Clin Chem. 2012 Sep;58(9):1322-31
pubmed: 22777720
Cell. 2018 Jan 11;172(1-2):388-388.e1
pubmed: 29328920
Genet Med. 2013 May;15(5):388-94
pubmed: 23288206
Ann Neurol. 1990 Jul;28(1):94-7
pubmed: 2375642
J Pediatr. 1993 Oct;123(4):598-602
pubmed: 8410517
Science. 1988 Dec 9;242(4884):1427-30
pubmed: 3201231
Curr Protoc Hum Genet. 2011 Oct;Chapter 19:Unit19.8
pubmed: 21975941
Mitochondrion. 2002 May;1(5):425-35
pubmed: 16120295
Am J Hum Genet. 1992 Feb;50(2):360-3
pubmed: 1734716