scholarly journals Analysis of the Mitochondrial Genome of a Novosvobodnaya Culture Representative using Next-Generation Sequencing and Its Relation to the Funnel Beaker Culture

Acta Naturae ◽  
2014 ◽  
Vol 6 (2) ◽  
pp. 31-35 ◽  
Author(s):  
A. V. Nedoluzhko ◽  
E. S. Boulygina ◽  
A. S. Sokolov ◽  
S. V. Tsygankova ◽  
N. M. Gruzdeva ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Material Culture ◽  
Bronze Age ◽  
Next Generation ◽  
North Caucasus ◽  
Mt Dna ◽  
Caucasus Region ◽  
The North ◽  
Illumina Gaiix ◽  
Generation Sequencing

The Novosvobodnaya culture is known as a Bronze Age archaeological culture in the North Caucasus region of Southern Russia. It dates back to the middle of the 4th millennium B.C. and seems to have occurred during the time of the Maikop culture. There are now two hypotheses about the emergence of the Novosvobodnaya culture. One hypothesis suggests that the Novosvobodnaya culture was a phase of the Maikop culture, whereas the other one classifies it as an independent event based on the material culture items found in graves. Comparison between Novosvobodnaya pottery and Funnelbeaker (TRB) pottery from Germany has allowed researchers to suggest that the Novosvobodnaya culture developed under the influence of Indo-European culture. Nevertheless, the origin of the Novosvobodnaya culture remains a matter of debate. We applied next-generation sequencing to study ~5000-year-old human remains from the Klady kurgan grave in Novosvobodnaya stanitsa (now the Republic of Adygea, Russia). A total of 58,771,105 reads were generated using Illumina GAIIx with a coverage depth of 13.4х over the mitochondrial (mt) DNA genome. The mtDNA haplogroup affiliation was determined as V7, suggesting a role of the TRB culture in the development of the Novosvobodnaya culture and supporting the model of sharing between Novosvobodnaya and early Indo-European cultures.

Археологические памятники у пос. Ергенинский

2020 ◽  
Vol 15 (3) ◽  
pp. 26-45
Author(s):  
Evgeny G. Burataev ◽  
◽  
Maria A. Ochir-Goryaeva ◽  
Erdni A. Kekeev ◽  
◽  
...  
Keyword(s):  
Bronze Age ◽  
Local Environment ◽  
Archaeological Sites ◽  
Stone Age ◽  
North Caucasus ◽  
Caucasus Region ◽  
The North ◽  
The Republic ◽  
The Village ◽  
The Bronze Age

Introduction. Due to the nomadic lifestyle of the indigenous population which they practiced up to 1930s and the absence of any noticeable anthropogenic impact on the local environment, most of the archaeological sites located on the territory of the Republic of Kalmykia are characterized by their very well preserved state. However, the area around the village Ergeninskiy (Ketchenerovskiy region, Republic of Kalmykia) is probably one of the few with such a number and variety of archaeological sites. The goal of this article is to introduce the results of the initial recording of the archaeological sites located in the valleys of the rivers Shar Elsin and Kek Buluk around the village Ergeninskiy. Materials and Methods. The mound group of the Catacomb culture to the eastern edge of the village was examined during the excavation works led by V. P. Shilov in 1981–1986 and M. A. Ochir-Goryaeva in 2006–2008. The Bronze Age settlement situated to the west of the village on the bank of the river Shar Elsin was examined in 2010–2012. The nodules of cretaceous flint were found by our archaeological team in the large Kyur Sala ravine to the north of the village Ergeninskiy. It should be noted that such nodules often indicate the probability of nearby existence of the Stone Age and Copper-Stone Age settlements. The exploration works undertaken in the area 15–18 km in length have revealed the six mound groups including 259 mounds. This article also gives the initial information about the previously unknown flat mounds discovered in the steppes. These mounds are similar to the sites of Maikop culture that date back to the Bronze Age era and are widespread in the North Caucasus region. Results. The area around the village Ergeninskiy is characterized by the density and variety of archaeological sites. Thus, the further archaeological research of this microregion has a lot of prospects.

scholarly journals Mitochondrial 13513G>A Mutation With Low Mutant Load Presenting as Isolated Leber's Hereditary Optic Neuropathy Assessed by Next Generation Sequencing

2021 ◽  
Vol 12 ◽  
Author(s):  
Chuan-bin Sun ◽  
Hai-xia Bai ◽  
Dan-ni Xu ◽  
Qing Xiao ◽  
Zhe Liu
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Optic Neuropathy ◽  
Chinese Family ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Next Generation ◽  
Mt Dna ◽  
Generation Sequencing ◽  
Hereditary Optic Neuropathy

Objective: Mitochondrial 13513G>A mutation presenting as isolated Leber's hereditary optic neuropathy (LHON) without any extraocular pathology has not been reported in literature. We herein evaluate the clinical characteristics and heteroplasmy of m.13513G>A mutation manifesting as isolated LHON.Methods: Seven members of a Chinese family were enrolled in this study. All subjects underwent detailed systemic and ophthalmic examinations. Mitochondrial DNA in their blood was assessed by targeted PCR amplifications, next generation sequencing (NGS), and pyrosequencing. One hundred of blood samples from ethnic-matched healthy volunteers were tested by NGS and pyrosequencing as normal controls.Results: Isolated LHON without any other ocular or extraocular pathology was identified in a 16 year old patient in this family. Heteroplasmic m.13513G>A mutation was detected by NGS of the full mtDNA genome in the patient with mutant load of 33.56%, and of 26% 3 months and 3 years after the onset of LHON, respectively. No m.13513G>A mutation was detected in all his relatives by NGS. Pyrosequencing revealed the mutant load of m.13513G>A mutation of the LHON patient, his mother, father and sister were 22.4, 1.9, 0, and 0%, respectively. None of 100 healthy control subjects was detected to harbor m.13513G>A mutation either by NGS or by pyrosequencing of the full mt DNA genome.Conclusions: We first report m.13513G>A mutation with low mutant load presenting as isolated LHON. NGS of the full mitochondrial DNA genome is highly recommended for LHON suspects when targeted PCR amplification for main primary point mutations of LHON was negative.

Labordiagnostik bei gastrointestinalen Tumoren

2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber
Keyword(s):  
Next Generation Sequencing ◽  
Kolorektales Karzinom ◽  
Next Generation ◽  
Generation Sequencing

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

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