scholarly journals The Mitochondrial DNA Landscape of Modern Mexico

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1453
Author(s):  
Martin Bodner ◽  
Ugo A. Perego ◽  
J. Edgar Gomez ◽  
Ricardo M. Cerda-Flores ◽  
Nicola Rambaldi Migliore ◽  
...  
Keyword(s):  
Forensic Application ◽  
Dispersal Patterns ◽  
Mt Dna ◽  
Genetic Studies ◽  
Control Region Sequences ◽  
European Colonization ◽  
Distinct Frequency ◽  
Pan American ◽  
Linguistic Groups ◽  
The Impact

Mexico is a rich source for anthropological and population genetic studies with high diversity in ethnic and linguistic groups. The country witnessed the rise and fall of major civilizations, including the Maya and Aztec, but resulting from European colonization, the population landscape has dramatically changed. Today, the majority of Mexicans do not identify themselves as Indigenous but as admixed, and appear to have very little in common with their pre-Columbian predecessors. However, when the maternally inherited mitochondrial (mt)DNA is investigated in the modern Mexican population, this is not the case. Control region sequences of 2021 samples deriving from all over the country revealed an overwhelming Indigenous American legacy, with almost 90% of mtDNAs belonging to the four major pan-American haplogroups A2, B2, C1, and D1. This finding supports a very low European contribution to the Mexican gene pool by female colonizers and confirms the effectiveness of employing uniparental markers as a tool to reconstruct a country’s history. In addition, the distinct frequency and dispersal patterns of Indigenous American and West Eurasian clades highlight the benefit such large and country-wide databases provide for studying the impact of colonialism from a female perspective and population stratification. The importance of geographical database subsets not only for forensic application is clearly demonstrated.

scholarly journals PSI-40 Two mitochondrial lineages revealed in North American yak

2020 ◽  
Vol 98 (Supplement_4) ◽  
pp. 477-477
Author(s):  
Leah K Treffer ◽  
Edward S Rice ◽  
Anna M Fuller ◽  
Samuel Cutler ◽  
Jessica L Petersen
Keyword(s):  
Sequence Data ◽  
Haplotype Network ◽  
Ovis Aries ◽  
Similar Species ◽  
Nucleotide Polymorphisms ◽  
Mt Dna ◽  
Protein Coding ◽  
Sister Clade ◽  
Mtdna Sequence ◽  
The Impact

Abstract Domestic yak (Bos grunniens) are bovids native to the Asian Qinghai-Tibetan Plateau. Studies of Asian yak have revealed that introgression with domestic cattle has contributed to the evolution of the species. When imported to North America (NA), some hybridization with B. taurus did occur. The objective of this study was to use mitochondrial (mt) DNA sequence data to better understand the mtDNA origin of NA yak and their relationship to Asian yak and related species. The complete mtDNA sequence of 14 individuals (12 NA yak, 1 Tibetan yak, 1 Tibetan B. indicus) was generated and compared with sequences of similar species from GeneBank (B. indicus, B. grunniens (Chinese), B. taurus, B. gaurus, B. primigenius, B. frontalis, Bison bison, and Ovis aries). Individuals were aligned to the B. grunniens reference genome (ARS_UNL_BGru_maternal_1.0), which was also included in the analyses. The mtDNA genes were annotated using the ARS-UCD1.2 cattle sequence as a reference. Ten unique NA yak haplotypes were identified, which a haplotype network separated into two clusters. Variation among the NA haplotypes included 93 nonsynonymous single nucleotide polymorphisms. A maximum likelihood tree including all taxa was made using IQtree after the data were partitioned into twenty-two subgroups using PartitionFinder2. Notably, six NA yak haplotypes formed a clade with B. indicus; the other four haplotypes grouped with B. grunniens and fell as a sister clade to bison, gaur and gayal. These data demonstrate two mitochondrial origins of NA yak with genetic variation in protein coding genes. Although these data suggest yak introgression with B. indicus, it appears to date prior to importation into NA. In addition to contributing to our understanding of the species history, these results suggest the two major mtDNA haplotypes in NA yak may functionally differ. Characterization of the impact of these differences on cellular function is currently underway.

scholarly journals Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Santosh K. Yadav ◽  
Ajaz A. Bhat ◽  
Sheema Hashem ◽  
Sabah Nisar ◽  
Madeeha Kamal ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Brain Imaging ◽  
Attention Deficit ◽  
Genetic Variations ◽  
Imaging Genetics ◽  
Treatment Modalities ◽  
Genetic Studies ◽  
Hyperactivity Disorder ◽  
Clinical Biomarkers ◽  
The Impact

AbstractAttention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. These symptoms may continue in 55–66% of cases from childhood into adulthood. Even though the precise etiology of ADHD is not fully understood, it is considered as a multifactorial and heterogeneous disorder with several contributing factors such as heritability, auxiliary to neurodevelopmental issues, severe brain injuries, neuroinflammation, consanguineous marriages, premature birth, and exposure to environmental toxins. Neuroimaging and neurodevelopmental assessments may help to explore the possible role of genetic variations on ADHD neuropsychobiology. Multiple genetic studies have observed a strong genetic association with various aspects of neuropsychobiological functions, including neural abnormalities and delayed neurodevelopment in ADHD. The advancement in neuroimaging and molecular genomics offers the opportunity to analyze the impact of genetic variations alongside its dysregulated pathways on structural and functional derived brain imaging phenotypes in various neurological and psychiatric disorders, including ADHD. Recently, neuroimaging genomic studies observed a significant association of brain imaging phenotypes with genetic susceptibility in ADHD. Integrating the neuroimaging-derived phenotypes with genomics deciphers various neurobiological pathways that can be leveraged for the development of novel clinical biomarkers, new treatment modalities as well as therapeutic interventions for ADHD patients. In this review, we discuss the neurobiology of ADHD with particular emphasis on structural and functional changes in the ADHD brain and their interactions with complex genomic variations utilizing imaging genetics methodologies. We also highlight the genetic variants supposedly allied with the development of ADHD and how these, in turn, may affect the brain circuit function and related behaviors. In addition to reviewing imaging genetic studies, we also examine the need for complementary approaches at various levels of biological complexity and emphasize the importance of combining and integrating results to explore biological pathways involved in ADHD disorder. These approaches include animal models, computational biology, bioinformatics analyses, and multimodal imaging genetics studies.

scholarly journals Cultural factors that affected the spatial and temporal epidemiology of kuru

2017 ◽  
Vol 4 (1) ◽  
pp. 160789 ◽  
Author(s):  
J. T. Whitfield ◽  
W. H. Pako ◽  
J. Collinge ◽  
M. P. Alpers
Keyword(s):  
Papua New Guinea ◽  
Cultural Practices ◽  
Mortuary Practices ◽  
Cultural Group ◽  
Genetic Studies ◽  
Linguistic Group ◽  
Epidemiological Changes ◽  
Spatio Temporal ◽  
Linguistic Groups ◽  
Initial Pattern

Kuru is a prion disease which became epidemic among the Fore and surrounding linguistic groups in Papua New Guinea, peaking in the late 1950s. It was transmitted during the transumption (endocannibalism) of dead family members at mortuary feasts. In this study, we aimed to explain the historical spread and the changing epidemiological patterns of kuru by analysing factors that affected its transmission. We also examined what cultural group principally determined a family's behaviour during mortuary rituals. Our investigations showed that differences in mortuary practices were responsible for the initial pattern of the spread of kuru and the ultimate shape of the epidemic, and for subsequent spatio-temporal differences in the epidemiology of kuru. Before transumption stopped altogether, the South Fore continued to eat the bodies of those who had died of kuru, whereas other linguistic groups, sooner or later, stopped doing so. The linguistic group was the primary cultural group that determined behaviour but at linguistic boundaries the neighbouring group's cultural practices were often adopted. The epidemiological changes were not explained by genetic differences, but genetic studies led to an understanding of genetic susceptibility to kuru and the selection pressure imposed by kuru, and provided new insights into human history and evolution.

scholarly journals Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Blood ◽  
2006 ◽  
Vol 108 (4) ◽  
pp. 1267-1279 ◽  
Author(s):  
Jessica Caprioli ◽  
Marina Noris ◽  
Simona Brioschi ◽  
Gaia Pianetti ◽  
Federica Castelletti ◽  
...  
Keyword(s):  
Disease Recurrence ◽  
Factor H ◽  
Response To Therapy ◽  
Regulatory Proteins ◽  
Response To Treatment ◽  
Complement Factor ◽  
Genetic Studies ◽  
Complement Regulatory Proteins ◽  
Uremic Syndrome ◽  
The Impact

Abstract Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non–Shiga toxin–associated HUS (non-Stx–HUS). We undertook genetic analysis on membrane cofactor protein (MCP), complement factor H (CFH), and factor I (IF) in 156 patients with non-Stx–HUS. Fourteen, 11, and 5 new mutational events were found in MCP, CFH, and IF, respectively. Mutation frequencies were 12.8%, 30.1%, and 4.5% for MCP, CFH, and IF, respectively. MCP mutations resulted in either reduced protein expression or impaired C3b binding capability. MCP-mutated patients had a better prognosis than CFH-mutated and nonmutated patients. In MCP-mutated patients, plasma treatment did not impact the outcome significantly: remission was achieved in around 90% of both plasma-treated and plasma-untreated acute episodes. Kidney transplantation outcome was favorable in patients with MCP mutations, whereas the outcome was poor in patients with CFH and IF mutations due to disease recurrence. This study documents that the presentation, the response to therapy, and the outcome of the disease are influenced by the genotype. Hopefully this will translate into improved management and therapy of patients and will provide the way to design tailored treatments.

Enhanced mtDNA repair capacity protects pulmonary artery endothelial cells from oxidant-mediated death

2002 ◽  
Vol 283 (1) ◽  
pp. L205-L210 ◽  
Author(s):  
Allison W. Dobson ◽  
Valentina Grishko ◽  
Susan P. LeDoux ◽  
Mark R. Kelley ◽  
Glenn L. Wilson ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Cell Death ◽  
Dna Repair ◽  
Trypan Blue Exclusion ◽  
Mt Dna ◽  
Repair Capacity ◽  
Mtdna Damage ◽  
Pulmonary Arterial ◽  
Selective Enhancement ◽  
The Impact

In rat cultured pulmonary arterial (PA), microvascular, and venous endothelial cells (ECs), the rate of mitochondrial (mt) DNA repair is predictive of the severity of xanthine oxidase (XO)-induced mtDNA damage and the sensitivity to XO-mediated cell death. To examine the importance of mtDNA damage and repair more directly, we determined the impact of mitochondrial overexpression of the DNA repair enzyme, Ogg1, on XO-induced mtDNA damage and cell death in PAECs. PAECs were transiently transfected with an Ogg1-mitochondrial targeting sequence construct. Mitochondria-selective overexpression of the transgene product was confirmed microscopically by the observation that immunoreactive Ogg1 colocalized with a mitochondria-specific tracer and, with an oligonucleotide cleavage assay, by a selective enhancement of mitochondrial Ogg1 activity. Overexpression of Ogg1 protected against both XO-induced mtDNA damage, determined by quantitative Southern analysis, and cell death as assessed by trypan blue exclusion and MTS assays. These findings show that mtDNA damage is a direct cause of cell death in XO-treated PAECs.

Colonization, Decolonization, and Power: Ruptures and Critical Junctures Out of Dominance

2016 ◽  
Author(s):  
James H. Liu ◽  
Felicia Pratto
Keyword(s):  
Social Justice ◽  
National Identity ◽  
New Zealand ◽  
Social Structure ◽  
Critical Junctures ◽  
The Social ◽  
The World ◽  
European Colonization ◽  
Historical Trajectory ◽  
The Impact

Colonization and decolonization are theorized at the intersection of Critical Junctures Theory and Power Basis Theory. This framework allows human agency to be conceptualized at micro-, meso-, and macro-levels, where individuals act on behalf of collectives. Their actions decide whether critical junctures in history (moments of potential for substantive change) result in continuity (no change), anchoring (continuity amid change with new elements), or rupture. We apply this framework to European colonization of the world, which is the temporal scene for contemporary social justice. Several critical junctures in New Zealand history are analyzed as part of its historical trajectory and narrated through changes in its symbology (system of meaning) and technology of state, as well as the identity space it encompasses (indigenous Māori and British colonizers). The impact of this historical trajectory on the social structure of New Zealand, including its national identity and government, is considered and connected to the overarching theoretical framework.

scholarly journals Altitude-wise analysis of co-occurrence networks of mitochondrial genome in Asian population

2019 ◽  
Author(s):  
Rahul K Verma ◽  
Cristina Giuliani ◽  
Alena Kalyakuina ◽  
Ajay Deep Kachhvah ◽  
Mikhail Ivanchenko ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
High Altitude ◽  
Dna Sequences ◽  
Group Analysis ◽  
Asian Population ◽  
The Tibetan Plateau ◽  
Mt Dna ◽  
High Altitude Adaptation ◽  
Altitude Adaptation ◽  
The Impact

ABSTRACTFinding mechanisms behind high altitude adaptation in humans at the Tibetan plateau has been a subject of evolutionary research. Mitochondrial DNA (mt-DNA) variations have been established as one of the key players in understanding the biological mechanisms at the basis of adaptation to these extreme conditions. To explore cumulative effects and dynamics of the variations in mitochondrial genome at varying altitudes, we investigated human mt-DNA sequences from NCBI database at different altitudes by employing co-occurrence motifs framework. We constructed co-occurrence motifs by taking into account variable sites for each altitude group. Analysis of the co-occurrence motifs using similarity clustering revealed a clear distinction between a lower and a higher altitude region. In addition, the previously known high altitude markers 3394 and 7697 (which are definitive sites of haplogroup M9a1a1c1b) were found to co-occur within their own gene complexes indicating the impact of intra-genic constraint on co-evolution of nucleotides. Furthermore, an ancestral marker 10398 was found to co-occur only at higher altitudes supporting the fact that a separate root of colonization at these altitudes might have taken place. Overall, our analysis revealed the presence of co-occurrence motifs at a whole mitochondrial genome level. This study, combined with the classical haplogroups analysis is useful in understanding role of co-occurrence of mitochondrial variations in high altitude adaptation.

Burning the Bush: The Development of Australia’s Southwest Botanical Province

2013 ◽  
Author(s):  
Fiona Kost
Keyword(s):  
Land Management ◽  
Management Practices ◽  
Prescribed Burning ◽  
Aboriginal People ◽  
Fire Regime ◽  
Historical Records ◽  
The Past ◽  
Environmental Narratives ◽  
European Colonization ◽  
The Impact

Though early historical records frequently mention Aboriginal, or Noongar, firing in south-western Australia, little is known about how the Noongar people managed the vegetation with fire, or the impact this has had on the environment. This study uses interdisciplinary archaeology, with information from ethnographic data, historical records, and pollen records from the last 6,000 years to determine the actions of the Noongar people and demonstrate how the Southwest Botanical Province can be viewed as an artefact of Noongar land management. It is widely accepted that Aboriginal people have had an effect on some of Australia’s vegetation types through fire (Bowman 1998; Hallam 1975; Kershaw et al. 2002) although the extent of the influence of Aboriginal firing is debated (Mooney et al. 2007). However, pollen data and the study of fire indicators in Xanthorrhoea and Eucalyptus trunks have been used to demonstrate that the frequency of fire events in the south-west has decreased since European colonization (Atahan et al. 2004; Ward et al. 2001), resulting in the loss of fire-dependent vegetation species and changes in vegetation distribution patterns. This disruption of the vegetation communities has been compounded by the extensive clearing of land for farming and the displacement of the Noongar people (Dodson 2001). The impact that European colonization had on vegetation becomes more apparent as an understanding of the Noongar fire management practices is gained. There is increasing acknowledgement by researchers of the need to understand the influence of the past fire regime on vegetation patterns and to acknowledge traditional land management practices (Hopper and Gioia 2004), as well as the changes caused by European attempts to create a ‘natural’ regime, so that land management groups can take them into account when determining modern-day prescribed burning timetables. Archaeological studies such as this one can provide a unique insight into the past actions of people such as the Noongar, allowing us to determine how they shaped the landscape prior to European colonization (see Balée, Chapter 3 this volume for a more direct discussion of the ‘indigenous’ nature of pre-colonial landscapes; see Stump, Chapter 10 this volume for similar discussions of colonial and postcolonial environmental narratives).

Occurrence and Dispersal of Indicator Bacteria on Cucumbers Grown Horizontally or Vertically on Various Mulch Types

2016 ◽  
Vol 79 (10) ◽  
pp. 1663-1672 ◽  
Author(s):  
SHIRLEY A. MICALLEF ◽  
MARY THERESA CALLAHAN ◽  
SIVARANJANI PAGADALA
Keyword(s):  
Production System ◽  
Production Systems ◽  
Field Trials ◽  
Dairy Manure ◽  
Bare Ground ◽  
Plastic Mulch ◽  
Dispersal Patterns ◽  
E Coli ◽  
Thermotolerant Coliforms ◽  
The Impact

ABSTRACT No data exist on the impact of cultivation practices on food safety risks associated with cucumber. Cucumbers are typically grown horizontally over a mulch cover, with fruit touching the ground, but this vining plant grows well in vertical systems. To assess whether production system affects bacterial dispersal onto plants, field trials were conducted over 2 years. Cucumber cultivar ‘Marketmore 76’ was grown horizontally on plastic, straw, or bare ground or vertically on trellises installed on bare ground in soil previously amended with raw dairy manure. Fruit, flower, leaf, and soil samples were collected to quantify Escherichia coli, thermotolerant coliforms, and enterococci by direct plating. E. coli isolates were characterized by BOX-PCR to evaluate relatedness among strains. Although thermotolerant coliforms and enterococci were significantly less abundant on fruit in year 1 (P < 0.05), this result was not seen in year 2 when more rain was recorded. Instead, fruit from straw-mulched beds had higher levels of enterococci compared with fruit grown on bare ground (P < 0.05). Leaves on bare ground occasionally had more bacteria than did leaves on plastic mulch beds (P < 0.05). Production system did not impact flower-associated bacterial levels. E. coli isolates (n =127) were genotyped, generating 21 distinct fingerprints. Vertical production did not appear to be a barrier for E. coli dispersal to the crop, as suggested by numerous related isolates from soil and flowers on bare ground, straw-mulched, and trellised beds (subcluster B1). None of the isolates from soil and flowers in this subcluster were related to isolates recovered from fruit, showing that flower colonization does not necessarily lead to fruit colonization. One cluster of isolates contained those from flowers and fruits but not soil, indicating a source other than manure-amended soil. Straw may be a source of E. coli; a number of closely related E. coli isolates were retrieved from soil and fruits from straw-mulched beds. Our approach revealed E. coli dispersal patterns and could be used to assess bacterial transmission in other production systems.

scholarly journals The human impact on North American erosion, sediment transfer, and storage in a geologic context

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
David B. Kemp ◽  
Peter M. Sadler ◽  
Veerle Vanacker
Keyword(s):  
Mass Transfer ◽  
North American ◽  
Sediment Accumulation ◽  
River System ◽  
Rapid Expansion ◽  
Past Century ◽  
Spatial And Temporal Scales ◽  
Alluvial Sediment ◽  
European Colonization ◽  
The Impact

AbstractHumans are primary agents of geomorphic change, and rates of anthropogenic landscape change likely far exceed the pace of change expected from natural geologic processes. Nevertheless, our understanding of the impact of humans on the natural landscape is limited by difficulties in accurately comparing past and present rates of change across wide spatial and temporal scales. Here, we present a compilation of  >4000 rates of alluvial sediment accumulation that provide an indirect record of North American erosion, mass transfer and sediment storage from the late Pleistocene to the present day. Continent-wide rates of alluvium accumulation were broadly stable for ~40,000 years, but increased 10-fold during the rapid expansion of agriculture and river system modification associated with European colonization. Interpreted in terms of mass transfer, humans have moved as much sediment in North America in the past century as natural processes can transfer in 700–3000 years.

Sign in / Sign up

Export Citation Format

Share Document