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https://www.readbyqxmd.com/read/29055160/temperature-and-soil-fertility-as-regulators-of-tree-line-scots-pine-growth-and-survival-implications-for-the-acclimation-capacity-of-northern-populations
#1
Matti Rousi, Boy J M H Possen, Seppo Ruotsalainen, Tarja Silfver, Juha Mikola
The acclimation capacity of leading-edge tree populations is crucially important in a warming climate. Theoretical considerations suggest that adaptation through genetic change is needed, but this may be a slow process. Both positive and catastrophic outcomes have been predicted, while empirical studies have lagged behind theory development. Here we present results of a 30-year study of 55 000 Scots pine (Pinus sylvestris) trees, planted in 15 common gardens in three consecutive years near and beyond the present Scots pine tree line...
October 21, 2017: Global Change Biology
https://www.readbyqxmd.com/read/29055159/genomics-of-natural-populations-evolutionary-forces-that-establish-and-maintain-gene-arrangements-in-drosophila-pseudoobscura
#2
Zachary L Fuller, Gwilym D Haynes, Stephen Richards, Stephen W Schaeffer
The evolution of complex traits in heterogeneous environments may shape the order of genes within chromosomes. Drosophila pseudoobscura has a rich gene arrangement polymorphism that allows one to test evolutionary genetic hypotheses about how chromosomal inversions are established in populations. D. pseudoobscura has >30 gene arrangements on a single chromosome that were generated through a series of overlapping inversion mutations with > 10 inversions with appreciable frequencies and wide geographic distributions...
October 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29055150/distinct-sources-of-gene-flow-produce-contrasting-population-genetic-dynamics-at-different-range-boundaries-of-a-choristoneura-budworm
#3
Gwylim S Blackburn, Bryan M T Brunet, Kevin Muirhead, Michel Cusson, Catherine Béliveau, Roger C Levesque, Lisa M Lumley, Felix A H Sperling
Populations are often exposed to multiple sources of gene flow, but accounts are lacking of the population genetic dynamics that result from these interactions or their effects on local evolution. Using a genomic clines framework applied to 1195 SNPs, we documented genome-wide, locus-specific patterns of introgression between Choristoneura occidentalis biennis spruce budworms and two ecologically divergent relatives, C. o. occidentalis and C. fumiferana, that it interacts with at alternate boundaries of its range...
October 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29055111/genetic-based-dissection-of-arsenic-accumulation-in-maize-using-a-genome-wide-association-analysis-method
#4
Zhan Zhao, Huaisheng Zhang, Zhongjun Fu, Hao Chen, Yanan Lin, Pengshuai Yan, Weihua Li, Huiling Xie, Zhanyong Guo, Xuehai Zhang, Jihua Tang
Understanding the mechanism of arsenic (As) accumulation in plants is important in reducing As's toxicity to plants and its potential risks to human health. Here, we performed a genome-wide association study to dissect the genetic basis of the As contents of different maize tissues in Xixian, which was irrigated with As-rich surface water, and Changge using an association population consisting of 230 representative inbred maize lines. Phenotypic data revealed a wide normal distribution and high repeatability for the As contents in maize tissues...
October 21, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/29055064/clinical-relevance-of-peroxisome-proliferator-activated-receptor-%C3%AE-gene-polymorphisms-with-sepsis
#5
Yu Liu, Wenhui Wan, Fang Fang, Lei Guo, Yusheng Zhao, Xinghu Zhang, Fang Huang
BACKGROUND: Peroxisome proliferator-activated receptor-γ (PPARγ) is a regulator of inflammation. This study aimed to explore associations between PPARγ gene single-nucleotide polymorphisms (SNPs) and susceptibility to and clinical outcome of sepsis in the North China Han population. METHODS: This study included 303 patients with sepsis and 303 controls. We conducted genetic typing for 13 common PPARγ gene SNPs (improved multiplex ligation detection reaction), linkage disequilibrium mapping, and haplotype inference...
October 21, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29054864/heterogeneous-patterns-of-genetic-diversity-and-differentiation-in-european-and-siberian-chiffchaff-phylloscopus-collybita-abietinus-p-tristis
#6
Venkat Talla, Faheema Kalsoom, Daria Shipilina, Irina Marova, Niclas Backström
Identification of candidate genes for trait variation in diverging lineages and characterization of mechanistic underpinnings of genome differentiation are key steps towards understanding the processes underlying the formation of new species. Hybrid zones provide a valuable resource for such investigations since they allow for studying how genomes evolve as species exchange genetic material and for associating particular genetic regions with phenotypic traits of interest. Here we use whole-genome resequencing of both allopatric and hybridising populations of the European (Phylloscopus collybita abietinus) and the Siberian chiffchaff (P...
October 20, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29054862/current-evidence-based-recommendations-on-investigating-children-with-global-developmental-delay
#7
REVIEW
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone
INTRODUCTION: Global developmental delay (GDD) affects 1%-3% of the population of children under 5 years of age, making it one of the most common conditions presenting in paediatric clinics; causes are exogenous, genetic (non-metabolic) or genetic (metabolic). Recent advances in biotechnology and genetic testing mean that the investigations available to perform for children under 5 years are increasing and are more sensitive than previously. This change in availability and type of testing necessitates an update in the recommendations for investigating GDD...
November 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29054765/characterization-of-germline-mutations-in-familial-lung-cancer-from-the-chinese-population
#8
Madiha Kanwal, Xiao-Jie Ding, Zhans-Han Ma, Lian-Wei Li, Ping Wang, Ying Chen, Yun-Chao Huang, Yi Cao
Compared with numerous studies of somatic mutations using sporadic lung cancer, the research into germline mutations using familial lung cancer (FLC) is limited. In the present study, we used FLC samples obtained from the Chinese population in highly air-polluted regions to screen for novel germline mutations in lung cancer. Through a whole genome sequencing (WGS) analysis of the nine subjects (four lung cancer patients and five normal family members of FLC), we obtained a whole genome dataset of DNA alterations in FLC samples...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29054612/dihydropyrimidinase-deficiency-in-four-east-asian-patients-due-to-novel-and-rare-dpys-mutations-affecting-protein-structural-integrity-and-catalytic-activity
#9
Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Chunhua Zhang, Xu Wang, Yoriko Watanabe, Kyoko Tashiro, Rutger Meinsma, Jeroen Roelofsen, Lida Zoetekouw, André B P van Kuilenburg
Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyzes the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 31 genetically confirmed patients with a DHP deficiency have been reported and the clinical, biochemical and genetic spectrum of DHP deficient patients is, therefore, still largely unknown. Here, we show that 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy...
October 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29054605/increased-prevalence-of-filaggrin-deficiency-in-51-patients-with-recessive-x-linked-ichthyosis-presenting-for-dermatological-examination
#10
Kira Süßmuth, Robert Gruber, Elke Rodriguez, Heiko Traupe, Susanne Amler, Alberto Sánchez-Guijo, Frederic Valentin, Tatjana Tarinski, Natalia Straub, Dieter Metze, Stefan W Schneider, Ingrid Hausser, Hansjörg Baurecht, Stephan Weidinger, Vinzenz Oji
X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene (FLG). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29054568/genetic-epidemiology-of-ovarian-cancer-and-prospects-for-polygenic-risk-prediction
#11
REVIEW
Michelle R Jones, Daniella Kamara, Beth Y Karlan, Paul D P Pharoah, Simon A Gayther
Epithelial ovarian cancer (EOC) is a heterogeneous disease with a major heritable component. The different histotypes of invasive disease - high grade serous, clear cell, endometrioid and mucinous - are associated with different underlying genetic susceptibility and epidemiological and lifestyle risk factors, all of which contribute to the different biology and clinical characteristics of each histotype. A combination of familial and population based sequencing studies, and genome wide association studies (GWAS) have identified a range of genetic susceptibility alleles for EOC comprising rare but highly penetrant genes (e...
October 17, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29054426/origin-of-the-myotonic-dystrophy-type-1-mutation-in-mexican-population-and-influence-of-amerindian-ancestry-on-ctg-repeat-allelic-distribution
#12
N M Murillo-Melo, L C Márquez-Quiróz, R Gómez, L Orozco, E Mendoza-Caamal, Y S Tapia-Guerrero, R Camacho-Mejorado, H Cortés, A López-Reyes, C Santana, G Noris, O Hernández-Hernández, B Cisneros, J J Magaña
Myotonic dystrophy type 1 is caused by expansion of a CTG trinucleotide repeat situated in the DMPK gene. Worldwide genetic studies suggest a single or limited number of mutational events cause the disease. However, distribution of CTG alleles and disease incidence varies among ethnicities. Due to the great ethnic diversity of the Mexican population, the present study was aimed at analyzing the impact of different lineages in shaping the CTG-repeat allelic distribution in the contemporary Mexican-Mestizo population as well as to shed light on the DM1 ancestral origin...
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29054425/molecular-characterization-of-congenital-myasthenic-syndromes-in-spain
#13
D Natera-de Benito, A Töpf, J J Vilchez, L González-Quereda, J Domínguez-Carral, J Díaz-Manera, C Ortez, M Bestué, P Gallano, M Dusl, A Abicht, J S Müller, J Senderek, A García-Ribes, N Muelas, T Evangelista, Y Azuma, G McMacken, A Paipa Merchan, P M Rodríguez Cruz, A Camacho, E Jiménez, M C Miranda-Herrero, A Santana-Artiles, O García-Campos, R Dominguez-Rubio, M Olivé, J Colomer, D Beeson, H Lochmüller, A Nascimento
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far...
August 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29054346/mixed-ploidy-species-progress-and-opportunities-in-polyploid-research
#14
REVIEW
Filip Kolář, Martin Čertner, Jan Suda, Peter Schönswetter, Brian C Husband
Mixed-ploidy species harbor a unique form of genomic and phenotypic variation that influences ecological interactions, facilitates genetic divergence, and offers insights into the mechanisms of polyploid evolution. However, there have been few attempts to synthesize this literature. We review here research on the cytotype distribution, diversity, and dynamics of intensively studied mixed-ploidy species and consider the implications for understanding mechanisms of polyploidization such as cytotype formation, establishment, coexistence, and post-polyploid divergence...
October 17, 2017: Trends in Plant Science
https://www.readbyqxmd.com/read/29054332/humanity-in-a-dish-population-genetics-with-ipscs
#15
REVIEW
Curtis R Warren, Chad A Cowan
Induced pluripotent stem cells (iPSCs) are powerful tools for investigating the relationship between genotype and phenotype. Recent publications have described iPSC cohort studies of common genetic variants and their effects on gene expression and cellular phenotypes. These in vitro quantitative trait locus (QTL) studies are the first experiments in a new paradigm with great potential: iPSC-based functional population genetic studies. iPSC collections from large cohorts are currently under development to facilitate the next wave of these studies, which have the potential to discover the effects of common genetic variants on cellular phenotypes and to uncover the molecular basis of common genetic diseases...
October 17, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/29054300/why-might-bacterial-pathogens-have-small-genomes
#16
REVIEW
Lucy A Weinert, John J Welch
Bacteria that cause serious disease often have smaller genomes, and fewer genes, than their nonpathogenic, or less pathogenic relatives. Here, we review evidence for the generality of this association, and summarise the various reasons why the association might hold. We focus on the population genetic processes that might lead to reductive genome evolution, and show how several of these could be connected to pathogenicity. We find some evidence for most of the processes having acted in bacterial pathogens, including several different modes of genome reduction acting in the same lineage...
October 17, 2017: Trends in Ecology & Evolution
https://www.readbyqxmd.com/read/29054249/hiv-1-infected-t-cells-dynamics-and-prognosis-an-evolutionary-game-model
#17
Bahareh Khazaei, Javad Salimi Sartakhti, Mohammad Hossein Manshaei, Quanyan Zhu, Mehdi Sadeghi, Seyed Rasoul Mousavi
BACKGROUND AND OBJECTIVE: Understanding the dynamics of human immunodeficiency virus (HIV) is essential for depicting, developing, and investigating effective treatment strategies. HIV infects several types of immune cells, but its main target is to destroy helper T-cells. In the lymph nodes, the infected T-cells interact with each other and their environment to obtain more resources. According to infectivity and replicative capacity of T-cells in the HIV infection process, they can be divided into four phenotypes...
December 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/29054124/historical-demography-and-colonisation-pathways-of-the-widespread-intertidal-seaweed-hormosira-banksii-phaeophyceae-in-southeastern-australia
#18
Rebecca Mueller, Jeffrey T Wright, Christopher J S Bolch
The palaeoceanography of southern Australia has been characterized by fluctuating sea levels during glacial periods, changing temperature regimes and modified boundary currents. Previous studies on genetic structuring of species in southeastern Australia have focused mainly on the differentiation of eastern and western populations while the potential role of Bass Strait as a region of overlap for three biogeographic provinces (Peronia, Maugea, and Flindersia) has been largely ignored. This study aimed to explore the likely roles of historic and contemporary factors in determining divergence patterns in the habitat-forming intertidal seaweed Hormosira banksii in southeastern Australia with a special focus on postglacial dispersal into Bass Strait...
October 20, 2017: Journal of Phycology
https://www.readbyqxmd.com/read/29054117/assessing-global-range-expansion-in-a-cryptic-species-complex-insights-from-the-red-seaweed-genus-asparagopsis-florideophyceae
#19
Marianela Zanolla, María Altamirano, Raquel Carmona, Julio De la Rosa, Virginia Souza-Egipsy, Alison Sherwood, Konstantinos Tsiamis, Ana Márcia Barbosa, Antonio Román Muñoz, Nikos Andreakis
The mitochondrial genetic diversity, distribution and invasive potential of multiple cryptic operational taxonomic units (OTUs) of the red invasive seaweed Asparagopsis were assessed by studying introduced Mediterranean and Hawaiian populations. Invasive behavior of each Asparagopsis OTU was inferred from phylogeographic reconstructions, past historical demographic dynamics, recent range expansion assessments and future distributional predictions obtained from demographic models. Genealogical networks resolved Asparagopsis gametophytes and tetrasporophytes into four A...
October 20, 2017: Journal of Phycology
https://www.readbyqxmd.com/read/29053842/differential-expression-of-water-channel-and-noncoding-rna-biogenesis-related-genes-in-three-lines-of-chickens-under-a-short-term-water-restriction
#20
S Orlowski, J Flees, N Anthony, S Dridi
Genetic selection for high growth rate has resulted in tremendous changes not only in feed efficiency, but also in water consumption between modern broilers and their ancestor jungle fowl (JF). However molecular mechanisms involved in water homeostasis are still not well defined. This study aimed, therefore, to determine the effect of short-term water restriction on the expression of water channel- and noncoding RNA biogenesis-related genes in the kidney and whole blood of JF, broiler population from the 1990s (RB1995), and modern broiler population developed in 2015 (ARB2015)...
October 5, 2017: Poultry Science
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