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Human Biology

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April 2017: Human Biology
Abigail Bouwman, Natallia Shved, Gülfirde Akgül, Frank Rühli, Christina Warinner
The CCR5-Δ32 mutation present in European populations is among the most prominently debated cases of recent positive selection in humans. This allele, a 32-bp deletion that renders the T-cell CCR5 receptor nonfunctional, has important epidemiological and public health significance, as homozygous carriers are resistant to several HIV strains. However, although the function of this allele in preventing HIV infection is now well described, its human evolutionary origin is poorly understood. Initial attempts to determine the emergence of the CCR5-Δ32 allele pointed to selection during the 14th-century Black Death pandemic; however, subsequent analyses suggest that the allele rose in frequency more than 5,000 years ago, possibly through drift...
April 2017: Human Biology
Recep Ozgur Taskent, Omer Gokcumen
Western Asia lies at the heart of the Old World, in the midst of Africa, Asia, and Europe. As such, this region has been populated and repopulated by myriad peoples, starting with the first migrants from Africa. All evidence points to Western Asia for the beginnings of sedentary life, and indeed, first the villages and later the cities of this land remain as archaeological wonders, revealing complex histories of multiple peoples and their interactions. With the wondrous breakthroughs in genomic studies, we now have the power to look at these histories with a truly quantitative lens...
April 2017: Human Biology
Héctor J Díaz-Zabala, María A Nieves-Colón, Juan C Martínez-Cruzado
Maternal lineages of West Eurasian and North African origin account for 11.5% of total mitochondrial ancestry in Puerto Rico. Historical sources suggest that this ancestry arrived mostly from European migrations that took place during the four centuries of the Spanish colonization of Puerto Rico. This study analyzed 101 mitochondrial control region sequences and diagnostic coding region variants from a sample set randomly and systematically selected using a census-based sampling frame to be representative of the Puerto Rican population, with the goal of defining West Eurasian-North African maternal clades and estimating their possible geographical origin...
April 2017: Human Biology
Adrijana Vukelic, Jacob A Cohen, Alexis P Sullivan, George H Perry
A genome-wide association study (GWAS) identifies regions of the genome that likely affect the variable state of a phenotype of interest. These regions can then be studied with population genetic methods to make inferences about the evolutionary history of the trait. There are increasing opportunities to use GWAS results-even from clinically motivated studies-for tests of classic anthropological hypotheses. One such example, presented here as a case study for this approach, involves tooth development variation related to dental crowding...
April 2017: Human Biology
Chenling Xu Antelope, Davide Marnetto, Fergal Casey, Emilia Huerta-Sanchez
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 continue to improve and enable 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 to revise previous conjectures...
January 2017: Human Biology
John Hawks
Human populations have a complex history of introgression and of changing population size. Human genetic variation has been affected by both these processes, so 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 sizes, found in both African and non-African populations, that appears to reflect events prior to the last 100,000 years...
January 2017: Human Biology
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Human Biology
Omer Gokcumen
No abstract text is available yet for this article.
January 2017: Human Biology
Ali J Berens, Taylor L Cooper, Joseph Lachance
The genomes of ancient humans, Neandertals, and Denisovans contain many alleles that influence disease risks. Using genotypes at 3,180 disease-associated loci, we estimated the disease burden of 147 ancient genomes. After correcting for missing data, genetic risk scores (GRS) were generated for nine disease categories and the set of all combined diseases. We used these genetic risk scores to examine the effects of different types of subsistence, geography, and sample age on the number of risk alleles in each ancient genome...
January 2017: Human Biology
Jessica F Brinkworth
The human immune system is under great pathogen-mediated selective pressure. Divergent infectious disease pathogenesis across human populations combined with the overrepresentation of "immune genes" in genomic regions with signatures of positive selection suggests that pathogens have significantly altered the human genome. However, important features of the human immune system can confound searches for and interpretations of signatures of pathogen-mediated evolution. Immune system redundancy, immune gene pleiotropy, host ability to acquire immunity and alter the immune repertoire of offspring through "priming," and host microbiome complicate evolutionary interpretations of host-pathogen interactions...
January 2017: Human Biology
Alexandre M Harris, Michael DeGiorgio
Methods that leverage the information about population history contained within the increasingly abundant genetic sequences of extant and extinct hominid populations are diverse in form and versatile in application. Here, we review key methods recently developed to detect and quantify admixture and ancestry in modern human populations. We begin with an overview of the f- and D-statistics, covering their conceptual principles and important applications, as well as any extensions developed for them. We then cover a combination of more recent and more complex methods for admixture and ancestry inference, discussing tests for direct ancestry between two populations, quantification of admixture in large data sets, and determination of admixture dates...
January 2017: Human Biology
Ripan S Malhi
No abstract text is available yet for this article.
October 2016: Human Biology
John E Pattison
There have been a number of previous estimates of human inbreeding for Britons of British descent in Britain, each generally for different social classes, geographical regions, and/or time periods. In this study I attempted to collect all relevant published studies and combine these disparate results into an integrated whole for all of Britain. This was achieved by combining weighted means of the percentage of consanguineous marriages (f%) reported in these earlier studies: weighted according to the number of records each author examined, the proportion of social classes or geographic regions covered by the records, and the "merit" of their individual research methodologies...
October 2016: Human Biology
Magdalena Resano, Daniela Zanetti, Esther M Esteban, Pedro Moral
Bahía Blanca is an urban city in a historically and geographically strategic location for the mixture of different populations in Argentina. In the present study, 10 Alu elements from the X chromosome are analyzed to characterize the genetic composition of the city's population, to compare it with other worldwide populations, and to explore the usefulness of X-chromosome markers for human population genetics purposes. In the Bahía Blanca sample, 7 of 10 Alu insertion frequencies are polymorphic. X-chromosome Alu results in Bahía Blanca are compared with eight different populations from Africa, Europe, and America...
October 2016: Human Biology
David Tarkhnishvili, Alexander Gavashelishvili, Marine Murtskhvaladze, Ardashel Latsuzbaia
The analyses of 15 autosomal and 23 Y-chromosome DNA single-tandem-repeat loci in five rural populations from the Caucasus (four ethnically Georgian and one ethnically Armenian) indicated that two Georgian populations, one from the west and the other from the east of the Greater Caucasus Mountains, were both patrilineally and autosomally most differentiated from each other, and the other populations of Georgians and Armenians held an intermediate position between those two. This pattern may be due to human dispersal from two distinct glacial refugia in the last glacial period and the early Holocene, followed by less gene flow among the populations from the Greater Caucasus than among those from the rest of the Caucasus, where the populations have undergone substantial admixture in historical time...
October 2016: Human Biology
Cris E Hughes, Mary P Rogers, Amanda C Owings, Barbara Petzelt, Joycelynn Mitchell, Harold Harry, Theresa Williams, Dena Goldberg, Damian Labuda, David Glenn Smith, Jerome S Cybulski, Ripan S Malhi
This study presents genetic data for nine Native American populations from northern North America. Analyses of genetic variation focus on the Pacific Northwest (PNW). Using mitochondrial, Y chromosomal, and autosomal DNA variants, we aimed to more closely address the relationships of geography and language with present genetic diversity among the regional PNW Native American populations. Patterns of genetic diversity exhibited by the three genetic systems were consistent with our hypotheses: genetic variation was more strongly explained by geographic proximity than by linguistic structure...
October 2016: Human Biology
Serkan Doğan, Adna Ašić, Gulsen Doğan, Larisa Besic, Damir Marjanovic
In a study of the Bosnian-Herzegovinian (B&H) population, Y-chromosome marker frequencies for 100 individuals, generated using the PowerPlex Y23 kit, were used to perform Y-chromosome haplogroup assignment via Whit Athey's Haplogroup Predictor. This algorithm determines Y-chromosome haplogroups from Y-chromosome short tandem repeat (Y-STR) data using a Bayesian probability-based approach. The most frequent haplogroup appeared to be I2a, with a prevalence of 49%, followed by R1a and E1b1b, each accounting for 17% of all haplogroups within the population...
July 2016: Human Biology
Luis Gómez-Pérez, Miguel A Alfonso-Sánchez, José E Dipierri, José A Peña
This study explores potential signals of microdifferentiation in the gene pool of three high-altitude populations from Jujuy province in northwest Argentina using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal short tandem repeats (STRs) located at chromosome 6 (6p21.3) was typed in samples from Quebrada Baja (∼2,500 m), Quebrada Alta (∼3,300 m), and Puna (> 3,500 m)...
July 2016: Human Biology
Gerhard P Shipley, Diana A Taylor, Antoine D R N'Yeurt, Anand Tyagi, Geetanjali Tiwari, Alan J Redd
We present the most comprehensive genetic characterization to date of five Fijian island populations: Viti Levu, Vanua Levu, Kadavu, the Lau Islands, and Rotuma, including nonrecombinant Y (NRY) chromosome and mitochondrial DNA (mtDNA) haplotypes and haplogroups. As a whole, Fijians are genetically intermediate between Melanesians and Polynesians, but the individual Fijian island populations exhibit significant genetic structure reflecting different settlement experiences in which the Rotumans and the Lau Islanders were more influenced by Polynesians, and the other Fijian island populations were more influenced by Melanesians...
July 2016: Human Biology
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