scholarly journals Fragmented Nuclear DNA is the Predominant Genetic Material in Human Hair Shafts

Genes ◽  
2018 ◽  
Vol 9 (12) ◽  
pp. 640 ◽  
Author(s):  
Michael D. Brandhagen ◽  
Odile Loreille ◽  
Jodi A. Irwin

While shed hairs are one of the most commonly encountered evidence types, they are among the most limited in terms of DNA quantity and quality. As a result, nuclear DNA short tandem repeat (STR) profiling is generally unsuccessful and DNA testing of shed hair is instead performed by targeting the mitochondrial DNA control region. Although the high copy number of mitochondrial DNA relative to nuclear DNA routinely permits the recovery of mitochondrial DNA (mtDNA) data in these cases, mtDNA profiles do not offer the discriminatory power of nuclear DNA profiles. In order to better understand the total content and degradation state of DNA in single shed hairs and assess the feasibility of recovering highly discriminatory nuclear DNA data from this common evidence type, high throughput shotgun sequencing was performed on both recently collected and aged (approximately 50-year-old) hair samples. The data reflect trends that have been demonstrated previously with other technologies, namely that mtDNA quantity and quality decrease along the length of the hair shaft. In addition, the shotgun data reveal that nuclear DNA is present in shed hair and surprisingly abundant relative to mitochondrial DNA, even in the most distal fragments. Nuclear DNA comprised, at minimum, 88% of the total human reads in any given sample, and generally more than 95%. Here, we characterize both the nuclear and mitochondrial DNA content of shed hairs and discuss the implications of these data for forensic investigations.

2016 ◽  
Vol 72 (8) ◽  
pp. 505-510 ◽  
Author(s):  
Sylwia Nisztuk-Pacek

The aim of the study was to assess the biodiversity of farmed fur animals from the Canidae family (common fox, polar fox, and raccoon dog) using nuclear and mitochondrial markers. The study involved 434 animals. The biological material included whole peripheral blood or skin tissue. The isolated genetic material was subjected to qualitative and quantitative analyses. Mitochondrial DNA (mtDNA) gene fragments (COX1, COX2, CYTB) and nuclear DNA (nDNA) gene fragments (MSTN1, MSTN2, MSTN3, IGF1, GHR) were amplified with the PCR (polymerase chain reaction) technique. The amplicons obtained were sequenced or subjected to PCR-RFLP (restriction fragment length polymorphism) reaction, and bioinformatics analyses were performed. The interspecific analysis of the nDNA sequences revealed a total of 25 polymorphisms. On the other hand, the interspecific analysis of the mtDNA gene fragments identified 277 polymorphisms. The COX1 gene fragment exhibited the greatest variability. It was shown that the frequency of polymorphisms within the mitochondrial genome was almost 20-fold higher than that in the nuclear genome of the raccoon dog. It was found that the genetic distances revealed by the analysis of the mitochondrial gene fragments were similar to the results obtained by the nDNA analysis. The genetic distance between the raccoon and common fox was the greatest. The smallest phylogenetic distance was revealed between the two fox species. The study results indicate mitochondrial and nuclear genes may be alternatively used for determining the phylogenetic relationships between fur animals from the Canidae family.


Cells ◽  
2019 ◽  
Vol 8 (5) ◽  
pp. 433 ◽  
Author(s):  
Maxime Merheb ◽  
Rachel Matar ◽  
Rawad Hodeify ◽  
Shoib Sarwar Siddiqui ◽  
Cijo George Vazhappilly ◽  
...  

Mitochondria are unique organelles carrying their own genetic material, independent from that in the nucleus. This review will discuss the nature of mitochondrial DNA (mtDNA) and its levels in the cell, which are the key elements to consider when trying to achieve molecular identification in ancient and degraded samples. mtDNA sequence analysis has been appropriately validated and is a consistent molecular target for the examination of biological evidence encountered in forensic cases—and profiling, in certain conditions—especially for burnt bodies and degraded samples of all types. Exceptional cases and samples will be discussed in this review, such as mtDNA from leather in Beethoven’s grand piano, mtDNA in mummies, and solving famous historical criminal cases. In addition, this review will be discussing the use of ancient mtDNA to understand past human diet, to trace historical civilizations and ancient trade routes, and to uncover geographical domestication origins and lineage relationships. In each topic, we will present the power of mtDNA and how, in many cases, no nuclear DNA was left, leaving mitochondrial DNA analysis as a powerful alternative. Exploring this powerful tool further will be extremely useful to modern science and researchers, due to its capabilities in providing us with previously unattainable knowledge.


1968 ◽  
Vol 37 (3) ◽  
pp. 683-693 ◽  
Author(s):  
John A. Parsons ◽  
Ronald C. Rustad

A squash technique was developed for log phase Tetrahymena pyriformis which permitted the resolution of over 100 individual mitochondria from a single cell. Mitochondria incorporated thymidine at all stages of the cell cycle, even when nuclear DNA synthesis was not occurring. During the stage of macronuclear DNA synthesis, however, there was a significant increase in the extent of mitochondrial labeling. Low radioautograph background suggests that mitochondrial DNA is synthesized at the mitochondria themselves. All mitochondria incorporated thymidine-3H within one population-doubling time. Grain counts also showed that the amount of mitochondrial label was retained for four generations and that this label remained randomly distributed among all mitochondria during this time. The results are not consistent with any theory of de-novo or "microbody" origin of mitochondria, but do support the hypothesis that mitochondria are produced by the growth and division of preexisting mitochondria. The stability of the mitochondrial DNA and its distribution among daughter mitochondria satisfy two prerequisites for a genetic material. The possibility is discussed that some of the genetic information for the mitochondrion is contained in the DNA associated with this organelle.


Statement of the Problem: The demanding need to discover someone’s identity is not possible with the nuclear DNA especially when the traces are highly degraded, since the nuclear DNA is destroyed in these conditions. Only the mitochondrial DNA that is inherited maternally can survive in these compromised conditions. The purpose of this study is to find a genetic commonality between UAE nationals. Methodology and Theoretical Orientation: 150 buccal swabs of unrelated UAE female students (approved by the UAE ID) of Sharjah Higher Colleges of Technology were collected and kept at room temperature for a period of three months or longer; to destroy the nuclear DNA, so only the mtDNA is present. mtDNA testing was performed on these buccal swabs, and it’s consisting of DNA Extraction, Real-Time quantitative PCR, Cycle sequencing and Capillary electrophoresis. The ABI PRISM®310 Genetic Analyzer capillary autosequencer [ABI PRISM® SeqScape® Soft-ware Version 2.6] was used to generate the mitochondrial DNA profiles. Findings: From these haplotype data, a total of 229 polymorphisms were observed carefully. 106 different polymorphisms were identified out of them, and classified into unique and common polymorphisms. Interestingly, two individuals from the study subjects lacked unique polymorphisms. Conclusion and Significance: It’s impossible for anyone to preserve their mtDNA from their great ancestors till now. The discovery of the remains of the Romanov family back in 1991 concluded that the comparison of mtDNA that is more than three generations old is more likely to get at least one mutation in the current generation. Therefore, if a vertical study is done on those two individuals with their older generations, definitely they will have unique polymorphisms compared to their older generations. Those two individuals are the effect of “Skipping Generations” phenomenon, the term that I have invented to solve the mystery of having two individuals with no unique polymorphisms.


1990 ◽  
Vol 97 (3) ◽  
pp. 509-516 ◽  
Author(s):  
S. Sazer ◽  
S.W. Sherwood

Cell growth and division require the doubling of cellular constituents followed by their equal distribution to the two daughter cells. Within a growing population, the ratio of mitochondrial to cellular volume is maintained, as is the number of mitochondrial genomes per cell. The mechanisms responsible for coordinating nuclear and mitochondrial DNA synthesis, and for balancing increases in cell and mitochondrial size are not well understood. In studies of the fission yeast Schizosaccharomyces pombe we quantified cellular and mitochondrial DNA content by both Southern blot analysis and flow cytometry of cells stained with a variety of DNA-binding fluorochromes, which we show are able to detect nuclear and mitochondrial DNA with different efficiencies. In the conditional cell division cycle mutant cdc10, which is unable to initiate nuclear DNA synthesis, we found that there was an increase in the mitochondrial DNA content in the absence of nuclear DNA replication. This demonstrates that mitochondrial and nuclear DNA synthesis are not obligately linked. We also show that mitochondrial DNA replication is not required for the increase in mitochondrial size that occurs as cells elongate, although this results in a decrease in the ratio of mitochondrial DNA to mitochondrial volume.


2017 ◽  
Vol 11 (1) ◽  
pp. 61-66
Author(s):  
Halah Al-summarraie ◽  
Mohammed Al-Zubaidi ◽  
Dhuha Salim نعمة ◽  
Sura Nabeel Hameed ◽  
Thooalnoon Younes Saleh ◽  
...  

Hair can be a valuable source of DNA especially in forensic casework and for noninvasive studies of human, when blood samples not available. This study emphasizes the impact of hair dyes on DNA sequence analysis. Samples collected from forty Iraqi families; each sample was divided in to two parts hair follicles and hair shaft. DNA extracted by using two different techniques, Phenol-chloroform (organic) method and prepFiler forensic DNA extraction kit. After quantification of DNA by real time PCR to confirm the exact DNA yield, Mitochondrial DNA (MtDNA) hypervariable region 1 successfully amplified from (50% of samples include hair follicle and 20% samples include shaft only), which all extracted  by organic method. Whereas by using prepFiler kit the ratio of amplification success reach to 95% of samples included hair follicles, but there wais no DNA outcome from hair shaft by using this kit. Our results demonstrate that treated hair by dyed or henna had a significant influence on the sequence analysis results. Organic method was an appropriate method for extraction DNA from hair shaft, since this method used for extracting the old and degraded samples. While prepFiler DNA extraction kit was more convenient for isolation DNA from, hair samples included follicles only with excellent result.


Author(s):  
Cristina A Nadalutti ◽  
Sylvette Ayala-Peña ◽  
Janine H. Santos

Mitochondria are primarily involved in energy production through the process of oxidative phosphorylation (OXPHOS). Increasing evidence has shown that mitochondrial function impacts a plethora of different cellular activities, including metabolism, epigenetics and innate immunity. Like the nucleus, mitochondria own their genetic material, which is maternally inherited. The mitochondrial DNA (mtDNA) encodes 37 genes that are solely involved in OXPHOS. Maintenance of mtDNA, through replication and repair, requires the import of nuclear DNA encoded proteins. Thus, mitochondria completely rely on the nucleus to prevent mitochondrial genetic alterations. As every cell contains hundreds to thousands of mitochondria, it follows that the shear number of organelles allow for the buffering of dysfunction - at least to some extent - before tissue homeostasis becomes impaired. Only red blood cells lack mitochondria entirely. Impaired mitochondrial function is a hallmark of aging and is involved in a number of different disorders, including neurodegenerative diseases, diabetes, cancer, and autoimmunity. While alterations in mitochondrial processes unrelated to OXPHOS, such as fusion and fission, contribute to aging and disease, maintenance of mtDNA integrity is critical for proper organellar function. Here, we focus on how mtDNA damage contributes to cellular dysfunction and health outcomes.


2020 ◽  
Vol 21 (5) ◽  
pp. 1838 ◽  
Author(s):  
Giovanna C. Cavalcante ◽  
Leandro Magalhães ◽  
Ândrea Ribeiro-dos-Santos ◽  
Amanda F. Vidal

Mitochondria are organelles responsible for several functions involved in cellular balance, including energy generation and apoptosis. For decades now, it has been well-known that mitochondria have their own genetic material (mitochondrial DNA), which is different from nuclear DNA in many ways. More recently, studies indicated that, much like nuclear DNA, mitochondrial DNA is regulated by epigenetic factors, particularly DNA methylation and non-coding RNAs (ncRNAs). This field is now called mitoepigenetics. Additionally, it has also been established that nucleus and mitochondria are constantly communicating to each other to regulate different cellular pathways. However, little is known about the mechanisms underlying mitoepigenetics and nuclei–mitochondria communication, and also about the involvement of the ncRNAs in mitochondrial functions and related diseases. In this context, this review presents the state-of-the-art knowledge, focusing on ncRNAs as new players in mitoepigenetic regulation and discussing future perspectives of these fields.


Author(s):  
Brenda E. Lambert ◽  
Ernest C. Hammond

The purpose of this study was to examine the external structure of four human hair shaft samples with the scanning Electron Microscope (SEM) and to obtain information regarding the chemical composition of hair by using the attached x ray microanalysis unit.The hair samples were obtained from two female subjects. Sample A was taken from a black female and had not undergone any type of chemical processing. Sample B, C, D were taken from a white female, and were natural, processed, and unpigmented, i.e. “gray”, respectively. Sample C had been bleached, tinted, and chemically altered using a permanent wave technique.


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