Social and Behavioral Sciences Commons^™

Leveraging Multiple Populations Across Time Helps Define Accurate Models Of Human Evolution: A Reanalysis Of The Lactase Persistence Adaptation, Chenling Xu Antelope, Davide Marnetto, Fergal Casey, Emilia Huerta-Sanchez

Human Biology Open Access Pre-Prints

Access to a geographically diverse set of modern human samples from the present time and from ancient remains, combined with archaic hominin samples, provides an unprecedented level of resolution to study both human history and adaptation. The amount and quality of ancient human data continues to improve, and enables tracking the trajectory of genetic variation over time. These data have the potential to help us redefine or generate new hypotheses of how human evolution occurred, and revise previous conjectures. In this review, we argue that leveraging all these data will help us better detail adaptive histories in humans. As a …

Introgression Makes Waves In Inferred Histories Of Effective Population Size, John Hawks

Human Biology Open Access Pre-Prints

Human populations have a complex history of introgression and of changing population size. Human genetic variation has been affected by both these processes, so that inference of past population size depends upon the pattern of gene flow and introgression among past populations. One remarkable aspect of human population history as inferred from genetics is a consistent “wave” of larger effective population size, found in both African and non-African populations, that appears to reflect events prior to the last 100,000 years. Here I carry out a series of simulations to investigate how introgression and gene flow from genetically divergent ancestral populations …

Mitochondrial-Dna Phylogenetic Information And The Reconstruction Of Human Population History: The South American Case, María Bárbara Postillone, S. Ivan Perez

Human Biology Open Access Pre-Prints

Objectives: Mitochondrial DNA (mtDNA) sequences are becoming increasingly important in the study of human population history. Here, we explore the differences in the amount of information of different mtDNA regions and their utility for the reconstruction of South American population history.

Material and methods: We analyzed six datasets comprising 259 mtDNA sequences from South America: Complete mtDNA, Coding, Control, hypervariable region I (HVRI), cytochrome b (cytb) plus Control, and cytb plus 12S plus 16S. The amount of information in each dataset was estimated employing several site-by-site and haplotype based statistics, distances among sequences, Neighbor-joining trees, distances among the estimated trees, …

Barriers, Motivations, And Preferences For Physical Activity Among Female African American Older Adults, Neha P. Gothe, Bradley J. Kendall

Kinesiology, Health and Sport Studies

According to the Centers for Disease Control and Prevention, less than 11% of adults more than the age of 65 meet the 2008 Physical Activity Guidelines for Americans. Among minority populations, only 5% of non-Hispanic Black older adults met the guidelines. Given our limited understanding of psychosocial and environmental factors that affect physical activity participation in these groups, the purpose of our focus groups was to investigate barriers, motivators, and preferences of physical activity for community-dwelling African American older adults. Three focus groups were conducted with female African American older adults (N = 20). Questions posed to each focus group …

Productivity Of Pre-Modern Agriculture In The Cucuteni-Trylillia Area, Anvar Shukurov, Mykhailo Videiko, Graeme Sarson, Kate Henderson, Robert Shiel, Pavel Dolukhanov, Galina Pashkevich

Human Biology Open Access Pre-Prints

We present palaeoeconomy reconstructions for pre-modern agriculture; we select, wherever required, features and parameter values specific for the Cucuteni–Trypillia Cultural unity (CTU: 5,400–2,700 BC, mostly the territory of modern Ukraine, Moldova and Romania). We verify theself-consistency and viability of the archaeological evidence related to all major elements of the agricultural production cycle within the constraints provided by environmental and technological considerations. The starting point of our analysis is the palaeodiet structure suggested by archaeological data, stable isotope analyses of human remains, and palynology studies in the CTU area. We allow for the archeologically attested contributions of domesticated and wild animal …

Origins Of An Unmarked Georgia Cemetery Using Ancient Dna Analysis, Andrew T. Ozga, Raúl Y. Tito, Brian M. Kemp, Hugh Matternes, Alexandra Obregon-Tito, Leslie Neal, Cecil M. Lewis, Jr.

Human Biology Open Access Pre-Prints

Determining the origins of those buried within undocumented cemeteries is of incredible importance to historical archaeologists and in many cases, the nearby communities. In the case of Avondale Burial Place, a cemetery in Bibb County, Georgia, in use from 1820 to 1950, all written documentation of those interred within it has been lost. Osteological and archaeological evidence alone could not describe, with confidence, the ancestral origins of the 101 individuals buried there. In the present study, we utilize ancient DNA extraction methods to investigate the origins of Avondale Burial Place through the use of well-preserved skeletal fragments from 20 individuals …

Mongolians In The Genetic Landscape Of Central Asia: Exploring The Genetic Relations Among Mongolians And Other World Populations, Jane E. Brissenden, Judith R. Kidd, Baigalmaa Evsanaa, Ariunaa Togtokh, Andrew J. Pakstis, Françoise Friedlaender, Kenneth K. Kidd, Janet M. Roscoe

Human Biology Open Access Pre-Prints

Genetic data on North Central Asian populations are underrepresented in the literature, especially autosomal markers. In the present study we use 812 single nucleotide polymorphisms that are distributed across all the human autosomes and that have been extensively studied at Yale to examine the affinities of two recently collected, samples of populations: rural and cosmopolitan Mongolians from Ulaanbaatar and nomadic, Turkic-speaking Tsaatan from Mongolia near the Siberian border. We compare these two populations to one another and to a global set of populations and discuss their relationships to New World populations. Specifically, we analyze data on 521 autosomal loci (single …

Hemochromatosis: Niche Construction And The Genetic Domino Effect In The European Neolithic, John M. Mccullough, Kathleen M. Heath, Alexis M. Smith

Human Biology Open Access Pre-Prints

Hereditary hemochromatosis (HH) is caused by a potentially lethal recessive gene (HFE, C282Y allele) that increases iron absorption and reaches polymorphic levels in Northern European populations. Because persons carrying the allele absorb iron more readily than non-carriers, it has often been suggested HFE is an adaptation to anemia. We hypothesize positive selection for HFE began during or after the European Neolithic with the adoption of an iron-deficient high grain and dairying diet and consequent anemia, a finding confirmed in Neolithic and later European skeletons. HFE frequency compared with rate of lactase persistence in Eurasia yields a positive linear …

Identification Of Whole Mitochondrial Genomes From Venezuela And Implications On Regional Phylogenies In South America, Esther J. Lee, D. Andrew Merriwether

Human Biology Open Access Pre-Prints

Recent studies have expanded and refined the founding haplogroups of the Americas using whole mitochondrial (mtDNA) genome analysis. In addition to pan-American lineages, a number of studies have identified specific variants that show higher frequencies in restricted geographical areas. In order to further characterize Native American maternal lineages and specifically examine local patterns within South America, we analyzed twelve maternally unrelated Yekuana whole mtDNA genomes from one village (Sharamaña) that include the four major Native American haplogroups A2, B2, C1, and D1. Our study proposes a reconfiguration of one subhaplogroup A2 (A2aa) that is specific to South America and identifies …

Mitochondrial Dna Suggests A Western Eurasian Origin For Ancient (Proto-) Bulgarians, D V. Nesheva, S Karachanak-Yankova, M Lari, Y Yordanov, A Galabov, David Caramelli, Draga Toncheva

Human Biology Open Access Pre-Prints

Ancient (proto-) Bulgarians have long been thought to as a Turkic population. However, evidence found in the past three decades show that this is not the case. Until now, this evidence does not include ancient mitochondrial DNA (mtDNA) analysis. In order to fill this void, we have collected human remains from the VIII-X century AD located in three necropolises in Bulgaria: Nojarevo (Silistra region) and Monastery of Mostich (Shumen region), both in Northeast Bulgaria and Tuhovishte (Satovcha region) in Southwest Bulgaria. The phylogenetic analysis of 13 ancient DNA samples (extracted from teeth) identified 12 independent haplotypes, which we further classified …

Hla Class Ii Alleles In The Otomi Population Of The Mezquital Valley. A Genetic Approach To The History Of Interethnic Migrations In The Mexican Central Plateau, Ana Itzel Juárez-Martín, Blanca Zoila González-Sobrino, Ángel Eduardo Camarena Olvera, Ramcés Falfán-Valencia

Human Biology Open Access Pre-Prints

From a historic and genetic point of view, the Otomi of the Mezquital Valley are a frontier people that have played an important role in the making of the population dynamics of the Mexican Central Plateau. Due to their antiquity in the area, the Otomi may be bearers of ancient genetic variability, shared mainly today with other groups belonging to the Otomanguean linguistic family and with the Nahua.

This study analyzes the HLA class II allele frequencies reported in Mexican indigenous populations, in order to provide an intra-regional level historical perspective of the genetic relationships between the Otomi of 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, …

Responsible Integration Of Biological And Psychosocial Models: Comments On “Genetic Associations With Intimate Partner Violence In A Sample Of Hazardous Drinking Men In Batterer Intervention Programs”, Antonia Abbey

Psychology Faculty Research Publications

Despite research demonstrating that gene expression differs in response to social environmental circumstances, deterministic views of biology are common. Stuart and colleagues (this issue) encourage readers to think about genetic factors in the same dynamic and probabilistic manner that they consider other causes of intimate partner violence. Given that participants had co-occurring alcohol problems, future studies should evaluate how different genetic polymorphisms uniquely and synergistically contribute to heavy drinking and aggression under different socio-environmental conditions. Psychological expectancies have a powerful impact on behavior, thus extreme caution is required before labeling people as genetically predisposed to violence.

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 …

Genetic Variation Of X-Strs In The Wichí Population From Chaco Province, Argentina, Laura Angela Glesmann, Pablo Francisco Martina, Cecilia Inés Catanesi

Human Biology Open Access Pre-Prints

The Wichí people from Chaco province inhabit the region called Impenetrable Chaqueño, where the climatic conditions are extreme. Besides the scarce communication with the main urban centers, the cultural patterns of the Wichí cause these communities to live in certain degree of isolation. The effect of this situation is an increased genetic differentiation from other populations, as it was observed through autosomal and Y chromosome markers. However, the genetic variation of X chromosome has not been fully analyzed yet. The patterns of allele distribution of different markers of X chromosome can be highly informative in comparative studies, because its special …

Feeling The Heat? Substantial Variation In Temperatures Does Not Affect The Proportion Of Males Born In Australia, Barnaby J. Dixson, John Haywood, Philip J. Lester, Diane K. Ormsby

Human Biology Open Access Pre-Prints

The global proportion of male births has been shown to vary with climate, with a higher proportion of male births documented in colder climates. Here we examined the hypothesis that ambient temperature predicts fluctuations in the proportion of male births in Australia and within seven Australian states using historical annual data spanning 1910-2009. We predicted that within states with tropical ambient temperatures the proportion of male births would decrease when ambient temperatures are higher. Considering the national composite births for the whole of Australia first, the proportion of males born ranged only from 0.510 to 0.517. We observed no relationship …

Ancestry Informative Markers Clarify The Regional Admixture Variation In The Costa Rican Population, Rebeca Campos-Sánchez, Henriette Raventós, Ramiro Barrantes

Human Biology Open Access Pre-Prints

The genetic structure of Costa Rica’s population is complex, both by region and by individual, due to the admixture process that started during the 15th century and historical events thereafter. Previous studies have been done mostly on Amerindian populations and the Central Valley inhabitants using various microsatellites and mtDNA markers. Here, we study for the first time a random sample from all regions of the country with AIMS (Ancestry Informative Markers) to address the individual and regional admixture proportions. A sample of 160 male individuals was screened for 78 AIMs customized in a GoldenGate platform from Illumina. We observed that …

Exploring The Relative Importance Of Spatial And Environmental Variation On The Craniometrics Of The Modern Portuguese, Katherine E. Weisensee

Human Biology Open Access Pre-Prints

Previous research on the causes of craniometric variation within and among human populations has invoked both genetic and environmental explanations. Recent studies of modern populations in the United States and Portugal, among other populations, suggest that changes in environmental conditions have resulted in significant changes in cranial morphology. While similar changes in cranial morphology have been observed in genetically diverse populations, these populations do not appear to be converging on a common form. This study seeks to understand the role that population history and environmental variation play in explaining craniometric variation in the modern Portuguese. Using three-­‐dimensional craniometric data collected …

Analysis Of Uniparental Lineages In Two Villages Of Santiago Del Estero, Argentina, Seat Of “Pueblos De Indios” In Colonial Times, Maia Pauro, Angelina García, Rodrigo Nores, Darío A. Demarchi

Human Biology Open Access Pre-Prints

Based on the analysis of the mitochondrial control region and seven biallelic markers of the Y Chromosome, we investigated the genetic composition of two rural populations of southern Santiago del Estero, Argentina, that were seats in colonial times of “pueblos de indios”, a colonial practice that consisted of concentrating the indigenous populations in organized and accessible settlements, to facilitate Christianizing and policing. We found the Native American Y chromosome haplogroup Q1a3a in only 11% (3/27) of the males. Haplogroup R, common in European populations, is the most frequent haplogroup in Santiago del Estero (55%). In contrast, the persistence of Native …

Cardiovascular Fitness Associated With Cognitive Performance In Heart Failure Patients Enrolled In Cardiac Rehabilitation, Sarah Garcia, Michael L. Alosco, Mary Beth Spitznagel, Ronald Cohen, Naftali Raz, Lawrence Sweet, Richard Josephson, Joel Hughes, Jim Rosneck, Morgan L. Oberle, John Gunstad

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Reduced cognitive function is common in persons with heart failure (HF). Cardiovascular fitness is a known contributor to cognitive function in many patient populations, but has only been linked to cognition based on estimates of fitness in HF. The current study examined the relationship between fitness as measured by metabolic equivalents (METs) from a standardized stress test and cognition in persons with HF, as well as the validity of office-based predictors of fitness in this population.

Methods

Forty-one HF patients enrolled in cardiac rehabilitation completed a standardized exercise stress test protocol, a brief neuropsychological battery, the 2-minute step …

Analysis Of A Genetic Isolate: The Case Of Carloforte (Italy), R. Robledo, L. Corrias, V. Bachis, N. Puddu, A. Mameli, G. Vona, C. M. Calò

Human Biology Open Access Pre-Prints

We reviewed data collected during several studies concerning the genetic isolate of Carloforte (Sardinia, Italy) and analyzed new data on Y-chromosome markers. Carloforte is also a language island, where people still speaks Tabarchino, an archaic form of Ligurian dialect. Demographic data indicate that, in the early years of its history, Carloforte population was characterized by a high degree of endogamy and consanguinity rates that started to decrease around 1850, when marriages with Sardinian people began to occur more frequently. Cultural factors, mainly language, account for the high endogamy. Genetic data from classical markers, mtDNA and Ychromosome markers confirmed the strong …

Paternal Lineage Analysis Supports An Armenian Rather Than A Central Asian Genetic Origin Of The Hamshenis, Ashot Margaryan, Ashot Harutyunyan, Zaruhi Khachatryan, Armine Khudoyan, Levon Yepiskoposyan

Human Biology Open Access Pre-Prints

The Hamshenis are an isolated geographic group of Armenians with a strong ethnic identity who, until the early decades of the twentieth century, inhabited the Pontus area on the southern coast of the Black Sea. Scholars hold alternative views on their origin, proposing eastern Armenia, western Armenia and Central Asia, respectively, as their most likely homeland. To ascertain whether genetic data from the non-recombining portion of the Y chromosome is supportive any of these suggestions, we screened 82 Armenian males of the Hamsheni descent for 12 biallelic and 6 microsatellite Y-chromosomal markers. These data were compared with the corresponding datasets …

Microgeographic Differentiation In Historical Yemen Inferred By Morphometric Distances, Maria Enrica Danubio, Emanuele Sanna, Fabrizio Rufo, Domenico Martorella, Elvira Vecchi, Alfredo Coppa

Human Biology Open Access Pre-Prints

This study analysed the variations in space of 8 body dimensions and 11 measures of the head of 1,244 adult Yemenite males, collected in 1933/34 by Coon in Yemen and in Hadhramawt. The aim was to evaluate the presence of geographic microdifferentiation of the populations settled in the different regions of Yemen at the time. Coon sub-divided the sample into 6 geographical areas according to birthplace and ethnicity of the individuals: Tihamah, the Western Mountains, the Central Plateau, the South Coast, the Eastern Mountains and Hadhramawt. The results of ANCOVA (age as covariate) show that the observed differences of all …

The Family Name As Socio-Cultural Feature And Genetic Metaphor: From Concepts To Methods, Pierre Darlu, Gerrit Bloothooft, Alessio Boattini, Leendert Brouwer, Matthijs Brouwer, Guy Brunet, Pascal Chareille, James Cheshire, Richard Coates, Paul Longley, Kathrin DräGer, Bertrand Desjardins, Patrick Hanks, Kees Mandemakers, Pablo Mateos, Davide Pettener, Antonella Useli, Franz Manni

Human Biology Open Access Pre-Prints

A recent workshop on "Family name between socio-cultural feature and genetic metaphor - From concepts to methods" was held in Paris on the 9th and 10th December 2010, partly sponsored by the Social Science and Humanity Institute (CNRS), and by Human Biology. This workshop was intended to facilitate exchanges on recent questions related to the names of persons and to confront different multidisciplinary approaches in a field of investigation where geneticists and historians, geographers, sociologists and ethnologists have all an active part. Here are the abstracts of some contributions.

Resource Availability, Mortality And Fertility: A Path Analytic Approach To Global Life History Variation, Mark A. Caudell, Robert J. Quinlan

Human Biology Open Access Pre-Prints

Humans exhibit considerable diversity in timing and rate of reproduction. Life history theory suggests that ecological cues of resource richness and survival probabilities shape human phenotypes across populations. Populations experiencing high extrinsic mortality due to uncertainty in resources should exhibit faster life histories. Here we use a path analytic approach informed by life history theory to model the multiple pathways between resources, mortality rates, and reproductive behavior in 191 countries. Resources that account for the most variance in population mortality rates are predicted to explain the most variance in total fertility rates. Results indicate that resources (e.g., calories, sanitation, education, …