Life Sciences Commons^™

A Homogenizing Process Of Selection Has Maintained An 'Ultra-Slow' Acetylation Nat2 Variant In Humans, Blandine Patillon, Pierre Luisi, Estella S. Poloni, Sotiria Boukouvala, Pierre Darlu, E. Genin, Audrey Sabbagh

Human Biology Open Access Pre-Prints

N-acetyltransferase 2 (NAT2) is an important enzyme involved in the metabolism of a wide spectrum of naturally occurring xenobiotics, including therapeutic drugs and common environmental carcinogens. Extensive polymorphism in NAT2 gives rise to a wide interindividual variation in acetylation capacity which influences individual susceptibility to various drug-induced adverse reactions and cancers. Striking patterns of geographic differentiation have been described for the main slow acetylation variants of the NAT2 gene, suggesting the action of natural selection at this locus. In the present study, we took advantage of the whole-genome sequence data available from the 1000 Genomes project to investigate the …

Population Genetic Structure Of Traditional Populations In The Peruvian Central Andes And Implications For South American Population History, Graciela S. Cabana, Cecil M. Lewis, Jr., Raúl Y. Tito, R. Alan Covey, Angela M. Cáceres, C. Leslie Castillo Pampas, Augusto F. De La Cruz, Diana Durand, Genevieve Housman, Brannon I. Hulsey, Gian Carlo Iannacone, Paul W. Lopez, Rolando Martínez, Ángel Medina, Olimpio Ortega Dávila, Karla Paloma Osorio Pinto, Susan I. Polo Santillán, Percy Rojas Domínguez, Meagan Rubel, Heather F. Smith, Silvia E. Smith, Verónica Rubín De Celis, Beatriz Lizárraga, Anne C. Stone

Human Biology Open Access Pre-Prints

Molecular-based characterizations of Andean peoples are traditionally conducted in the service of elucidating continental-level evolutionary processes in South America. Consequently, “western” Andean population genetic variation is often represented in relation to “eastern” variation among Amazon and Orinoco River Basin populations. This west-east contrast in patterns of population genetic variation is typically attributed to large-scale phenomena, such as dual founder colonization events and/or differing long-term microevolutionary histories. However, alternative explanations that consider the nature and causes of population genetic diversity within the Andean region remain underexplored.

Here we examine population genetic diversity in the Peruvian Central Andes using mtDNA HVI and …

Human Diversity In Jordan: Polymorphic Alu Insertions In General Jordanian And Bedouin Groups, Daniela Zanetti, May Sadiq, Robert Carreras-Torres, Omar Khabour, Almuthanna Alkaraki, Esther Esteban, Marc Via, Pedro Moral

Human Biology Open Access Pre-Prints

Jordan, located in the Levant region, is a crucial area to investigate human migration between Africa and Eurasia. Even thought, the genetic history of Jordanians is far to be clarified including the origin of the Bedouins today resident in Jordan. Here, we provide new genetic data on autosomal independent markers in two Jordanian population samples (Bedouins and general population) in order to approach the genetic diversity inside this country and to give new information about the genetic position of these populations in the frame of the Mediterranean and Middle East area. The analyzed markers are 18 Alu polymorphic insertions characterized …

Human Paternal Lineages, Languages And Environment In The Caucasus, David Tarkhnishvili, Alexander Gavashelishvili, Marine Murtskhvaladze, Mariam Gabelaia, Gigi Tevzadze

Human Biology Open Access Pre-Prints

Publications that describe the human Y-DNA haplogroup composition in different ethnic or linguistic groups and geographic regions provide no explicit explanation of the distribution of human paternal lineages in relation to specific ecological conditions. Our research attempts to address this topic for the Caucasus – a geographic region that encompasses a relatively small area but harbors high linguistic, ethnic, and Y-DNA haplogroup diversity. 224 men that identified themselves as ethnic Georgian were genotyped for Y-chromosome 23 STR markers and assigned to their geographic places of origin. The genotyped data were supplemented with the published data on the haplogroup composition and …

Phylogeography Of E1b1b1b-M81 Haplogroup And Analysis Of Its Subclades In Morocco, Ahmed Reguig, Nourdin Harich, Abdelhamid Barakat, Hassan Rouba

Human Biology Open Access Pre-Prints

In this work, we have analyzed a total of 295 unrelated Berber-speaking men from the northern, center and southern of Morocco, in order to characterize frequency of E1b1b1b-M81 haplogroup and to refine the phylogeny of its subclades: E1b1b1b1-M107, E1b1b1b2-M183 and E1b1b1b2a-M165. For this purpose, we have typed four biallelic polymorphisms: M81, M107, M183 and M165. As results, a large majority of the Berber-speaking male lineages belong to the Y chromosomal E1b1b1b-M81 haplogroup. The frequency ranged from 79.1 to 98.5% in all localities sampled. Then, the E1b1b1b2-M183 was the most dominant subclade in our samples, which ranged from 65.1% to 83.1%. …

Mitochondrial Dna Variability Among Six South-American Amerindian Villages From The Pano Linguistic Group, Celso T. Mendes-Junior, Aguinaldo L. Simoes

Human Biology Open Access Pre-Prints

Although scattered throughout a large geographic area, the members of the Pano linguistic group present strong ethnic, linguistic and cultural homogeneity, a feature that causes them to be considered as components of a same “Pano” tribe. Nevertheless, the genetic homogeneity between Pano villages has not been examined before. To study the genetic structure of the Pano linguistic group, four major Native American mitochondrial DNA (mtDNA) founder haplogroups were analyzed in 77 Amerindians from six villages of four Pano tribes (Katukina, Kaxináwa, Marúbo, and Yaminawa) located in the Brazilian Amazon. The central position of these tribes in the continent makes them …

Questioning The “Melting Pot”: Analysis Of Alu Inserts In Three Population Samples From Uruguay, Pedro C. Hidalgo, Patricia Mut, Elizabeth Ackermann, Gonzalo Figueiro, Monica Sans

Human Biology Open Access Pre-Prints

The way that immigrants integrate to recipient societies has been discussed for decades, mainly from the perspective of the social sciences. Uruguay, as other American countries, received different waves of European immigrants, although the details of the process of assimilation, when occurred, are unclear. In this paper, we use genetic markers to understand the process experienced by the Basques, one of the major migration waves that populated Uruguay, and its relation to other immigrants as well as to Native American and African descendants. For this purpose, we analyze the allele frequencies of ten ALU loci (A25, ACE, APOA1, B65, F13B, …

Influence Of Introgression And Geological Processes On Phylogenetic Relationships Of Western North American Mountain Suckers (Pantosteus, Catostomidae), Peter J. Unmack, Thomas E. Dowling, Nina J. Laitinen, Carol L. Secor, Richard L. Mayden, Dennis K. Shiozawa, Gerald R. Smith

Biological Sciences Faculty Research Publications

Intense geological activity caused major topographic changes in Western North America over the past 15 million years. Major rivers here are composites of different ancient rivers, resulting in isolation and mixing episodes between river basins over time. This history influenced the diversification of most of the aquatic fauna. The genus Pantosteus is one of several clades centered in this tectonically active region. The eight recognized Pantosteus species are widespread and common across southwestern Canada, western USA and into northern Mexico. They are typically found in medium gradient, middle-elevation reaches of rivers over rocky substrates. This study (1) compares molecular data …

Did Pre-Clovis People Inhabit The Paisley Caves (And Why Does It Matter)?, Stuart J. Fiedel

Human Biology Open Access Pre-Prints

The date and processes of initial human colonization of the Americas are crucial issues for the understanding of human biological and cultural development. For example, Soares et al. (2009) cited the American archaeological record to validate their proposed revision of the human mitochondrial molecular clock. Their suggested mutation rate puts the date of rapid expansion of Native American clades at around 13,500–15,000 cal BP. Similarly, Poznik et al. (2013) have used the “high-confidence archaeological dating” of the initial peopling of the Americas to calibrate the rates of both Y-chromosome and mtDNA mutation and thereby to reconcile the ages of the …

Pedigree Structure And Kinship Measurements Of A Mid-Michigan Community: A New North American Population Isolate Identified, Joseph D. Bonner, Rachel Fisher, James Klein, Qing Lu, Ellen Wilch, Karen H. Friderici, Jill L. Elfenbein, Debra L. Schutte, Brian C. Schutte

Human Biology Open Access Pre-Prints

Previous studies identified a cluster of individuals with an autosomal recessive form of deafness that resides in a small region of mid-Michigan. We hypothesized that affected members from this community descend from a defined founder population. Using public records and personal interviews, we constructed a genealogical database that includes the affected individuals and their extended families as descendants of 461 settlers who emigrated from the Eifel region of Germany between 1836 and 1875. The genealogical database represents a 13-generation pedigree that includes 27,747 descendants of these settlers. Among these descendants, 13,784 are presumed living. Many of the extant descendants reside …

Effect Of Recent Historical Events On Migration And Isonymic Stratification Among The Rama Amerindians From Nicaragua, Norberto F. Baldi

Human Biology Open Access Pre-Prints

The Rama Amerindians from southern Nicaragua are one of few indigenous populations inhabiting the east coast and lowlands of southern Central America. Early 18th century ethnohistorical accounts depicted the Rama as a mobile hunter-gatherer and horticulturalists group dispersed in household units along southern Nicaraguan rivers. However, during the 19th and 20th centuries, Rama settlement patterns changed to aggregated communities due to increased competition for local resources resulting from non-indigenous immigration. This study’s objective was to discern the degree of relatedness between and within subdivisions of seven of these communities based on patterns of surname variation and genealogical data. We applied …

Celiac Disease As A Model For The Evolution Of Multifactorial Disease In Humans, Aaron Sams, John Hawks

Human Biology Open Access Pre-Prints

Celiac disease (CD) is a multifactorial chronic inflammatory condition that results in injury of the mucosal lining of the small intestine upon ingestion of wheat gluten and related proteins from barley and rye. Although the exact mechanisms leading to CD are not fully understood, the genetic basis of CD has been relatively well characterized. In this review we briefly review the history of discovery, clinical presentation, pathophysiology, and current understanding of the genetics underlying CD risk. Then, we discuss what is known about the current distribution and evolutionary history of genes underlying CD risk in light of other evolutionary models …

Lactase Persistence Variants In Arabia And In The African Arabs, Edita Priehodova, Abdelhay Abdelsawy, Evelyne Heyer, Viktor Cerny

Human Biology Open Access Pre-Prints

Lactase persistence (LP), the state enabling the digestion of milk sugar in adulthood occurs only in some human populations. The convergent and independent origin of this physiological ability in Europe and Africa is linked with animal domestication that had either started in both places independently or had spread from the Near East by acculturation. However, it has recently been shown that at least in its southern parts, the population of Arabia not only has a different LP-associated mutation profile than the rest of Africa and Europe but had also experienced an independent demographic expansion occurring before the Neolithic around the …

A Genealogy Of Ecological Rhetoric: Heraclitus, Bacon, Darwin And Huxley, Jared Grogan

Wayne State University Dissertations

This dissertation is a genealogical study of historical intersections between rhetoric and ecology. Studying the works of Heraclitus, Francis Bacon, T.H. Huxley and Darwin as "bridge figures" in the history of rhetoric, science and ecological thought, I examine how their rhetorical theories and strategies (as discursive practices, performances and techniques) form a genealogy that bridges rhetorical and ecological theories and practices. My analysis studies their critical assessments and uses of rhetoric as it intersects with each figure's new investigations into natural philosophy, nature, and evolutionary biology, while drawing out relevant lessons for contemporary ecological and rhetorical thinkers. The main threads …

Environmental Stressors: Pathways Of Exposure And Aquatic Invertebrate Response, Carly Jean Nowicki

Wayne State University Dissertations

The need to monitor freshwater and detect impairments prior to observable impacts is crucial to maintain species diversity and ecosystem function. Therefore, understanding the contribution of various matrices (i.e., sediment and water) to chemical exposure is critical for remediation of impacted sites.

To evaluate various matrices of chemical exposure, I focused on the organic pollutant polychlorinated biphenyls (PCBs) due to their relatively ubiquitous nature, high toxicity, and adverse effects on humans and wildlife. In complementary laboratory and field experiments, I compared the effects of aqueous versus sedimentary exposure of PCBs on invertebrates. In the laboratory, organisms exposed to PCB-contaminated sediments …

The Movement Of Escherichia Coli And Enterococci Among Beach Sand, Lyngbya Wollei, And The Water Column: Implications For Human Health, Krystal Ann Bakkila

Wayne State University Theses

Occurrence of the filamentous cyanobacteria Lyngbya wollei has become an increasing concern in the Great Lakes region. Prior to the early 1900's, L. wollei had been occasionally documented in the Great Lakes region, but in the last decade it has been observed with increasing frequency. In the Great Lakes L. wollei has been proliferating, fragmenting, and accumulating ashore, where it decays forming thick detrital mats harboring potentially harmful bacteria such as Escherichia coli and enterococci. While the filamentous green algae species Cladophora glomerata has been well studied in this region, very little research has been done on the cyanobacteria L. …

The Effects Of Phragmites Australis Litter On Seed Emergence In The Erie-Huron Corridor, Michigan, Travis White

Wayne State University Theses

The invasive reed, Phragmites australis, is widespread within the Great Lakes region, and is often blamed for habitat degradation. Once established, it creates dense litter mats that may persist following remediation efforts of living stock removal. We investigated the effects of P. australis and Typha angustifolia, narrow-leaf cattail, litter on seedling emergence from the native seed bank by harvesting soils from five Great Lakes coastal marshes densely populated by either Phragmites or Typha and exposing them to Phramities or Typha litter in treatments of varying litter depths. Seedling emergences were quantified for six weeks. Soils from Phragmites dominated sites had …

Rates And Modes Of Sequence Evolution In Various Lineages Within Chenopodiaceae, James Andrew Naeger

Wayne State University Theses

Sexual dimorphism in domesticated spinach, Spinacia oleracea, is thought to be determined by differential expression of floral organ identity genes. We examined the floral organ morphologies of seven species in the Chenopodiaceae, including two wild species of spinach, in order to gain insight into the evolution of floral reproductive strategy in this clade. The species within the Anserineae demonstrate extensive evolution in floral morphology and reproductive strategy, and Spinacia is unique for having been domesticated rather recently and for being dioecious. We found C. album to be hermaphroditic, C. foliosum and M. nuttalliana to be gynomonoecious, while C. bonus-henricus …

Approaches To Improving Detection Of Invasive Fish Species In Western Lake Erie Through Analysis Of Monitoring Efficiencies And Metrics Of Community Distribution, Joshua Alan Southern

Wayne State University Theses

Efficient monitoring programs are essential for the early detection of invasive species. The Ohio Department of Natural Resources (ODNR) monitoring program encompassing 21 years of fish survey data from western Lake Erie was evaluated using Chao biodiversity analysis to determine the efficiency and precision of collection strategies of trawl and gillnet sampling, at detecting rare or non-native species. Overall, ODNR sampling annually accounted for ~80% of extant fish species, leaving gaps in coverage where rare and invasive species may be overlooked and proliferate.Obtaining 90% efficiency would require an estimated doubling of previous sampling effort. Computer simulations calculating different proportions of …