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Full-Text Articles in Genetics and Genomics

Identification Of Whole Mitochondrial Genomes From Venezuela And Implications On Regional Phylogenies In South America, Esther J. Lee, D. Andrew Merriwether Mar 2015

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 Mar 2015

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 …


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 Sep 2014

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 …


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 Sep 2014

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 Sep 2014

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 Jun 2014

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 Jun 2014

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 Jun 2014

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 Jun 2014

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 Jun 2014

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, …


Did Pre-Clovis People Inhabit The Paisley Caves (And Why Does It Matter)?, Stuart J. Fiedel Mar 2014

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 …


Comparing Partial Least Square Approaches In Gene-Or Region-Based Association Study For Multiple Quantitative Phenotypes, Zhongshang Yuan, Xiaoshuai Zhang, Fangyu Li, Jinghua Zhao, Fuzhong Xue Mar 2014

Comparing Partial Least Square Approaches In Gene-Or Region-Based Association Study For Multiple Quantitative Phenotypes, Zhongshang Yuan, Xiaoshuai Zhang, Fangyu Li, Jinghua Zhao, Fuzhong Xue

Human Biology Open Access Pre-Prints

On thinking quantitatively of complex diseases, there are at least three statistical strategies for association study: single SNP on single trait, gene-or region (with multiple SNPs) on single trait and on multiple traits. The third of which is the most general in dissecting the genetic mechanism underlying complex diseases underpinning multiple quantitative traits. Gene-or region association methods based on partial least square (PLS) approaches have been shown to have apparent power advantage. However, few attempts are developed for multiple quantitative phenotypes or traits underlying a condition or disease, and the performance of various PLS approaches used in association study for …


Ancestry Informative Markers Clarify The Regional Admixture Variation In The Costa Rican Population, Rebeca Campos-Sánchez, Henriette Raventós, Ramiro Barrantes Sep 2013

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 …


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 Sep 2013

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 …


How Studies Of Human Sex Ratios At Birth May Lead To The Understanding Of Several Forms Of Pathology, William H. James Sep 2013

How Studies Of Human Sex Ratios At Birth May Lead To The Understanding Of Several Forms Of Pathology, William H. James

Human Biology Open Access Pre-Prints

This paper deals with the problem of the causes of the variation of sex ratio (proportion male) at birth. This problem is common to a number of areas in biology and medicine e.g. obstetrics, neurology/psychiatry, parasitology, virology, oncology and teratology. It is established that there are significantly biased, but unexplained, sex ratios in each of these fields. Yet workers in them (with the possible exception of virology) have regarded the problem as a minor loose end, irrelevant to the field’s major problems. However, as far as I know, no-one has previously noted that unexplained biased sex ratios occur, and thus …


The -9/+9 Polymorphism Of The Bradykinin Receptor Beta 2 Gene And Athlete Status: A Study Involving Two European Cohorts., Marek Sawczuk, Yevgeniya I. Timshina, Irina V. Astratenkova, Agnieszka Maciejewska-Karłowska, Agata Leońska-Duniec, Krzysztof Ficek, Leysan J. Mustafina, Paweł Cięszczyk, Tomasz Klocek, Ildus I. Ahmetov Sep 2013

The -9/+9 Polymorphism Of The Bradykinin Receptor Beta 2 Gene And Athlete Status: A Study Involving Two European Cohorts., Marek Sawczuk, Yevgeniya I. Timshina, Irina V. Astratenkova, Agnieszka Maciejewska-Karłowska, Agata Leońska-Duniec, Krzysztof Ficek, Leysan J. Mustafina, Paweł Cięszczyk, Tomasz Klocek, Ildus I. Ahmetov

Human Biology Open Access Pre-Prints

Background: Previous studies concerning the relevance of the BDKRB2 gene polymorphisms revealed that the absence (–9 allele) of a 9 base pair sequence in exon 1 of the BDKRB2 gene is correlated with higher skeletal muscle metabolic efficiency, glucose uptake during exercise, as well as endurance athletic performance. Aim: The aim of the study was to investigate the association between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of east-European athletes. Therefore, we examined the genotype distribution of the BDKRB2 9/+9 polymorphic site in a group of Polish athletes and confirmed the results obtained in a replication …


Genetic Variation Of X-Strs In The Wichí Population From Chaco Province, Argentina, Laura Angela Glesmann, Pablo Francisco Martina, Cecilia Inés Catanesi Sep 2013

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 …


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 Sep 2012

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 …


The Effect Of Acp1-Ada1 Genetic Interaction On Human Life Span, Nazzareno Lucarini, Valerio Napolioni, Andrea Magrini, Fulvia Gloria Sep 2012

The Effect Of Acp1-Ada1 Genetic Interaction On Human Life Span, Nazzareno Lucarini, Valerio Napolioni, Andrea Magrini, Fulvia Gloria

Human Biology Open Access Pre-Prints

Acid phosphatase (ACP1) is a polymorphic enzyme which catalyzes the conversion of flavinmononucleotide (FMN) to riboflavin and regulates the cellular concentration of flavin-adeninedinucleotide (FAD) and, consequently, energy metabolism. Its activity is modulated by adenosine deaminase (ADA1) genotype. Aim of our work is to verify whether individuals with a high proportion of ACP1 f isozyme and carrying ADA*2 allele, displaying the highest phosphatase activity, may have a higher life expectancy. Genomic DNA was extracted from peripheral blood of 569 females and 509 males (18-106 years) randomly recruited from Central Italy. These samples were subdivided into three sexspecific age groups …


Extensive Population Structure In San, Khoe And Mixed Ancestry Populations From Southern Africa Revealed By 44 Short 5-Snp Haplotypes, Carina M. Schlebusch, Himla Soodyall Sep 2012

Extensive Population Structure In San, Khoe And Mixed Ancestry Populations From Southern Africa Revealed By 44 Short 5-Snp Haplotypes, Carina M. Schlebusch, Himla Soodyall

Human Biology Open Access Pre-Prints

The San and Khoe people currently represent remnant groups of a much larger and widely distributed population of hunter gatherers and pastoralists who had exclusive occupation of southern Africa before the arrival of Bantu-speaking groups in the past 1,200 years and sea-borne immigrants within the last 350 years. Genetic studies (mitochondrial DNA and Y-chromosome) conducted on San and Khoe groups revealed that they harbour some the most divergent lineages found in living peoples throughout the world. Recently, high-density autosomal SNP-array studies confirmed the early divergence of Khoe-San population groups from all other human populations. The present study made use of …


Using The Neandertal And Denisova Genetic Data To Understand The Common Mapt 17q21 Inversion In Modern Humans, Núria Setó-Salvia, Federico Sánchez-Quinto, Eudald Carbonell, Carlos Lorenzo, David Comas, Jordi Clarimón Sep 2012

Using The Neandertal And Denisova Genetic Data To Understand The Common Mapt 17q21 Inversion In Modern Humans, Núria Setó-Salvia, Federico Sánchez-Quinto, Eudald Carbonell, Carlos Lorenzo, David Comas, Jordi Clarimón

Human Biology Open Access Pre-Prints

The polymorphic inversion on 17q21, that includes the MAPT gene, represents a unique locus in the human genome characterized by a large region with strong linkage disequilibrium. Two distinct haplotypes, H1 and H2, exist in modern humans, and H1 has been unequivocally related to several neurodegenerative disorders. Recent data indicates that recurrent inversions of this genomic region have occurred through primate evolution, with the H2 haplotype being the ancestral state. Neandertals harbored the H1 haplotype, however until now no data was available for the Denisova hominin. Neandertals and Denisovans are sister groups that share a common ancestor with modern humans. …


A Tale Of Two Haplotypes: The Eda2r/Ar Intergenic Region Is The Most Divergent Genomic Segment Between Africans And East Asians In The Human Genome, Amanda M. Casto, Brenna M. Henn, Jeffery M. Kidd, Carlos D. Bustamante, Marcus W. Feldman Sep 2012

A Tale Of Two Haplotypes: The Eda2r/Ar Intergenic Region Is The Most Divergent Genomic Segment Between Africans And East Asians In The Human Genome, Amanda M. Casto, Brenna M. Henn, Jeffery M. Kidd, Carlos D. Bustamante, Marcus W. Feldman

Human Biology Open Access Pre-Prints

Single nucleotide polymorphisms (SNPs) with large allele frequency differences between human populations are relatively rare. The longest run of SNPs with an allele frequency difference of one between the Yoruba of Nigeria and the Han Chinese is found on the long arm of the X chromosome in the intergenic region separating the EDA2R and AR genes. It has been proposed that the unusual allele frequency distributions of these SNPs are the result of a selective sweep affecting African populations that occurred after the Out-of-Africa migration. To investigate the evolutionary history of the EDA2R/AR intergenic region, we characterized the haplotype structure …


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 Aug 2012

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 …


Genetic Susceptibility To Type 2 Diabetes: A Global Meta-Analysis Studying The Genetic Differences In Tunisian Populations, Rym Berhouma, S. Kouidhi, M. Ammar, H. Abid, T. Baroudi, H. Ennafaa, A. Benammar-Elgaaied Aug 2012

Genetic Susceptibility To Type 2 Diabetes: A Global Meta-Analysis Studying The Genetic Differences In Tunisian Populations, Rym Berhouma, S. Kouidhi, M. Ammar, H. Abid, T. Baroudi, H. Ennafaa, A. Benammar-Elgaaied

Human Biology Open Access Pre-Prints

The present study is the first meta-analysis to evaluate type 2 diabetes (T2D) - associated polymorphisms in cohorts originated from several Tunisian regions. In fact, we evaluated the effect of seven polymorphisms in the following genes; PPARg ( Pro12Ala), TNFα (-308A/G), ENPP1(K121Q), TCF7L2(rs7903146 C/T), MTHFR( C677T), ACE(I/D), CAPN10(3R/2R) on T2D risk, through a meta-analysis combining data of previous studies performed on Tunisian populations originating from the north, centre or south of the country. R statistics version 2.12.1 software was used to estimate the heterogeneity between studies. Pooled ORs were computed by the fixed-effects method of Mantel-Haenszel if no heterogeneity between …


Resource Availability, Mortality And Fertility: A Path Analytic Approach To Global Life History Variation, Mark A. Caudell, Robert J. Quinlan Apr 2012

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, …


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 Apr 2012

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.


Association Among Obesity-Related Anthropometric Phenotypes: Analyzing Genetic And Environmental Contribution, Aline Jelenkovic, Esther Rebato Apr 2012

Association Among Obesity-Related Anthropometric Phenotypes: Analyzing Genetic And Environmental Contribution, Aline Jelenkovic, Esther Rebato

Human Biology Open Access Pre-Prints

Obesity has become a public health and policy problem in many parts of the world. Epidemiological and population studies in this field are usually based on different anthropometric measures, however, common genetic and environmental factors between these phenotypes have been scarcely studied. The objective of this work is to assess the strength of these factors on the covariation among a large set of obesity-related traits. The subject group consisted of 533 nuclear families living in the Greater Bilbao (Spain), and included 1702 individuals aged 2-61 years. Detailed anthropometric measurements (stature, breadths, circumferences and skinfolds) were carried out in each subject. …


Microgeographic Differentiation In Historical Yemen Inferred By Morphometric Distances, Maria Enrica Danubio, Emanuele Sanna, Fabrizio Rufo, Domenico Martorella, Elvira Vecchi, Alfredo Coppa Apr 2012

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 …


Cranial Variation And The Transition To Agriculture In Europe, Ron Pinhasi, Noreen Von Cramon-Taubadel Feb 2012

Cranial Variation And The Transition To Agriculture In Europe, Ron Pinhasi, Noreen Von Cramon-Taubadel

Human Biology Open Access Pre-Prints

Debates surrounding the nature of the Neolithic demographic transition in Europe have historically centred on two opposing models; a 'demic' diffusion model whereby incoming farmers from the Near East and Anatolia effectively replaced or completely assimilated indigenous Mesolithic foraging communities and an 'indigenist' model resting on the assumption that ideas relating to agriculture and animal domestication diffused from the Near East, but with little or no gene flow. The extreme versions of these dichotomous models have been heavily contested primarily on the basis of archaeological and modern genetic data. However, in recent years there has been a growing acceptance of …


The Y-Chromosome C3* Star-Cluster Attributed To Genghis Khan's Descendants Is Present At High Frequency In The Kerey Clan From Kazakhstan, Serikbai Abilev, Boris Malyarchuk, Miroslava Derenko, Marcin Wozniak, Tomasz Grzybowski, Ilya Zakharov Feb 2012

The Y-Chromosome C3* Star-Cluster Attributed To Genghis Khan's Descendants Is Present At High Frequency In The Kerey Clan From Kazakhstan, Serikbai Abilev, Boris Malyarchuk, Miroslava Derenko, Marcin Wozniak, Tomasz Grzybowski, Ilya Zakharov

Human Biology Open Access Pre-Prints

In order to verify the possibility that the Y-chromosome C3* star-cluster attributed to Genghis Khan and his patrilineal descendants is relatively frequent in the Kereys, who are the dominant clan in Kazakhstan and in Central Asia as a whole, polymorphism of the Y-chromosome was studied in Kazakhs, represented mostly by members of the Kerey clan. The Kereys showed the highest frequency (76.5%) of individuals carrying the Y-chromosome variant known as C3* star-cluster ascribed to the descendants of Genghis Khan. C3* star-cluster haplotypes were found in two sub-clans, Abakh-Kereys and Ashmaily-Kereys, diverged about 20-22 generations ago according to the historical data. …