scholarly journals Plant Organelle DNA Maintenance

Plants ◽  
2020 ◽  
Vol 9 (6) ◽  
pp. 683 ◽  
Author(s):  
Niaz Ahmad ◽  
Brent L. Nielsen
Keyword(s):  
Copy Number ◽  
Developmental Stages ◽  
Higher Plants ◽  
Current Knowledge ◽  
Higher Plant ◽  
Organelle Dna ◽  
Number Variation ◽  
A Cell ◽  
Genome Copy Number ◽  
Dna Maintenance

Plant cells contain two double membrane bound organelles, plastids and mitochondria, that contain their own genomes. There is a very large variation in the sizes of mitochondrial genomes in higher plants, while the plastid genome remains relatively uniform across different species. One of the curious features of the organelle DNA is that it exists in a high copy number per mitochondria or chloroplast, which varies greatly in different tissues during plant development. The variations in copy number, morphology and genomic content reflect the diversity in organelle functions. The link between the metabolic needs of a cell and the capacity of mitochondria and chloroplasts to fulfill this demand is thought to act as a selective force on the number of organelles and genome copies per organelle. However, it is not yet clear how the activities of mitochondria and chloroplasts are coordinated in response to cellular and environmental cues. The relationship between genome copy number variation and the mechanism(s) by which the genomes are maintained through different developmental stages are yet to be fully understood. This Special Issue has several contributions that address current knowledge of higher plant organelle DNA. Here we briefly introduce these articles that discuss the importance of different aspects of the organelle genome in higher plants.

scholarly journals Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

2020 ◽  
Vol 17 (24) ◽  
pp. 9253
Author(s):  
Natália Oliva-Teles ◽  
Maria Chiara de Stefano ◽  
Louise Gallagher ◽  
Severin Rakic ◽  
Paula Jorge ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Chromosomal Region ◽  
Current Knowledge ◽  
Copy Number Variants ◽  
Inclusion Criteria ◽  
Rare Disorders ◽  
Number Variation ◽  
Malformation Syndromes ◽  
Neuropsychiatric Conditions

Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers’ cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting.

scholarly journals Whole-genome copy number variation analysis in anophthalmia and microphthalmia

2013 ◽  
Vol 84 (5) ◽  
pp. 473-481 ◽  
Author(s):  
KF Schilter ◽  
LM Reis ◽  
A Schneider ◽  
TM Bardakjian ◽  
O Abdul-Rahman ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Whole Genome ◽  
Variation Analysis ◽  
Genome Copy ◽  
Copy Number Variation Analysis ◽  
Number Variation ◽  
Genome Copy Number

scholarly journals A versatile statistical analysis algorithm to detect genome copy number variation

2004 ◽  
Vol 101 (46) ◽  
pp. 16292-16297 ◽  
Author(s):  
R.-S. Daruwala ◽  
A. Rudra ◽  
H. Ostrer ◽  
R. Lucito ◽  
M. Wigler ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Genome Copy ◽  
Analysis Algorithm ◽  
Number Variation ◽  
Genome Copy Number

scholarly journals Twist and Turn—Topoisomerase Functions in Mitochondrial DNA Maintenance

2019 ◽  
Vol 20 (8) ◽  
pp. 2041 ◽  
Author(s):  
Steffi Goffart ◽  
Anu Hangas ◽  
Jaakko L. O. Pohjoismäki
Keyword(s):  
Mitochondrial Dna ◽  
Copy Number ◽  
Topology Control ◽  
Current Knowledge ◽  
Genome Maintenance ◽  
Frequent Use ◽  
Long Time ◽  
Topoisomerase 2 ◽  
Dna Maintenance ◽  
Insight Into

Like any genome, mitochondrial DNA (mtDNA) also requires the action of topoisomerases to resolve topological problems in its maintenance, but for a long time, little was known about mitochondrial topoisomerases. The last years have brought a closer insight into the function of these fascinating enzymes in mtDNA topology regulation, replication, transcription, and segregation. Here, we summarize the current knowledge about mitochondrial topoisomerases, paying special attention to mammalian mitochondrial genome maintenance. We also discuss the open gaps in the existing knowledge of mtDNA topology control and the potential involvement of mitochondrial topoisomerases in human pathologies. While Top1mt, the only exclusively mitochondrial topoisomerase in mammals, has been studied intensively for nearly a decade, only recent studies have shed some light onto the mitochondrial function of Top2β and Top3α, enzymes that are shared between nucleus and mitochondria. Top3α mediates the segregation of freshly replicated mtDNA molecules, and its dysfunction leads to mtDNA aggregation and copy number depletion in patients. Top2β, in contrast, regulates mitochondrial DNA replication and transcription through the alteration of mtDNA topology, a fact that should be acknowledged due to the frequent use of Topoisomerase 2 inhibitors in medical therapy.

scholarly journals Copy number variation in female infertility and candidate gene screening for common infertility-related diseases

2021 ◽  
Vol 103 (3) ◽  
pp. 73-79
Author(s):  
Zhainagul Kozhabek ◽  
◽  
Min Pang ◽  
Qiongzhen Zhao ◽  
Jiangyan Yi ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
High Frequency ◽  
Copy Number ◽  
High Throughput Sequencing ◽  
Female Infertility ◽  
Functional Genes ◽  
Genome Copy ◽  
Sequencing Technologies ◽  
Number Variation ◽  
Genome Copy Number

To investigate the correlation between the genome copy number variation and female infertility we collected 3962 female infertility samples and analyzed copy number variation (CNV) using high-throughput sequencing technologies. In this study 269 CNVs were found in 246 samples, 17 of which were new CNVs. The occurrence of CNVs was mostly found in X chromosome, and some candidate genes related to female infertility were screened. We also found some high frequency CNVs, which contain important functional genes. This study filled the blank of CNV research on female infertility and discovered the characteristics of CNV (CNV preference, recurrent CNV), which provided genetic reference for female infertility.

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