scholarly journals Associations between sequence variations in the mitochondrial DNA D-loop region and outcome of hepatocellular carcinoma

2016 ◽  
Vol 11 (6) ◽  
pp. 3723-3728 ◽  
Author(s):  
SHILAI LI ◽  
PEIQI WAN ◽  
TAO PENG ◽  
KAIYIN XIAO ◽  
MING SU ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Mitochondrial Dna ◽  
Loop Region ◽  
Sequence Variations ◽  
D Loop

Sequence variations of mitochondrial DNA D-loop region are highly frequent events in familial breast cancer

2007 ◽  
Vol 15 (4) ◽  
pp. 535-543 ◽  
Author(s):  
Man Yu ◽  
Yurong Shi ◽  
Fei Zhang ◽  
Yunli Zhou ◽  
Yi Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mitochondrial Dna ◽  
Familial Breast Cancer ◽  
Loop Region ◽  
Sequence Variations ◽  
D Loop

Sequence variations of mitochondrial DNA D-loop region are associated with familial nasopharyngeal carcinoma

Mitochondrion ◽  
2011 ◽  
Vol 11 (2) ◽  
pp. 327-333 ◽  
Author(s):  
Zheng Peng ◽  
Congying Xie ◽  
Qiuyan Wan ◽  
Li Zhang ◽  
Wenfeng Li ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Nasopharyngeal Carcinoma ◽  
Loop Region ◽  
Sequence Variations ◽  
D Loop

scholarly journals Mitochondrial DNA Methylation and Human Diseases

2021 ◽  
Vol 22 (9) ◽  
pp. 4594
Author(s):  
Andrea Stoccoro ◽  
Fabio Coppedè
Keyword(s):  
Dna Methylation ◽  
Mitochondrial Dna ◽  
Mitochondrial Genome ◽  
Nuclear Dna ◽  
Epigenetic Modification ◽  
Nuclear Genome ◽  
Epigenetic Modifications ◽  
Human Diseases ◽  
Loop Region ◽  
D Loop

Epigenetic modifications of the nuclear genome, including DNA methylation, histone modifications and non-coding RNA post-transcriptional regulation, are increasingly being involved in the pathogenesis of several human diseases. Recent evidence suggests that also epigenetic modifications of the mitochondrial genome could contribute to the etiology of human diseases. In particular, altered methylation and hydroxymethylation levels of mitochondrial DNA (mtDNA) have been found in animal models and in human tissues from patients affected by cancer, obesity, diabetes and cardiovascular and neurodegenerative diseases. Moreover, environmental factors, as well as nuclear DNA genetic variants, have been found to impair mtDNA methylation patterns. Some authors failed to find DNA methylation marks in the mitochondrial genome, suggesting that it is unlikely that this epigenetic modification plays any role in the control of the mitochondrial function. On the other hand, several other studies successfully identified the presence of mtDNA methylation, particularly in the mitochondrial displacement loop (D-loop) region, relating it to changes in both mtDNA gene transcription and mitochondrial replication. Overall, investigations performed until now suggest that methylation and hydroxymethylation marks are present in the mtDNA genome, albeit at lower levels compared to those detectable in nuclear DNA, potentially contributing to the mitochondria impairment underlying several human diseases.

scholarly journals Genetic Diversity of Maternal Lineage in the Endangered Kiso Horse Based on Polymorphism of the Mitochondrial DNA D-Loop Region

2014 ◽  
Vol 76 (11) ◽  
pp. 1451-1456 ◽  
Author(s):  
Masaki TAKASU ◽  
Namiko ISHIHARA ◽  
Teruaki TOZAKI ◽  
Hironaga KAKOI ◽  
Masami MAEDA ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Mitochondrial Dna ◽  
Maternal Lineage ◽  
Loop Region ◽  
D Loop

scholarly journals Protein binding to a single termination-associated sequence in the mitochondrial DNA D-loop region.

1993 ◽  
Vol 13 (4) ◽  
pp. 2162-2171 ◽  
Author(s):  
C S Madsen ◽  
S C Ghivizzani ◽  
W W Hauswirth
Keyword(s):  
Mitochondrial Dna ◽  
Protein Binding ◽  
Loop Formation ◽  
Sequence Element ◽  
Conserved Sequence ◽  
Loop Region ◽  
In Organello ◽  
Close Proximity ◽  
D Loop

A methylation protection assay was used in a novel manner to demonstrate a specific bovine protein-mitochondrial DNA (mtDNA) interaction within the organelle (in organello). The protected domain, located near the D-loop 3' end, encompasses a conserved termination-associated sequence (TAS) element which is thought to be involved in the regulation of mtDNA synthesis. In vitro footprinting studies using a bovine mitochondrial extract and a series of deleted mtDNA templates identified a approximately 48-kDa protein which binds specifically to a single TAS element also protected within the mitochondrion. Because other TAS-like elements located in close proximity to the protected region did not footprint, protein binding appears to be highly sequence specific. The in organello and in vitro data, together, provide evidence that D-loop formation is likely to be mediated, at least in part, through a trans-acting factor binding to a conserved sequence element located 58 bp upstream of the D-loop 3' end.

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