Genetic signatures of gene flow and malaria-driven natural selection in sub-Saharan populations of the "endemic Burkitt Lymphoma belt".

abstract：:Gaining insights into genetic predisposition to age-related diseases and lifespan is a challenging task complicated by the elusive role of evolution in these phenotypes. To gain more insights, we combined methods of genome-wide and candidate-gene studies. Genome-wide scan in the Atherosclerosis Risk in Communities (AR...

journal_title：PLoS genetics

authors： Kulminski AM,He L,Culminskaya I,Loika Y,Kernogitski Y,Arbeev KG,Loiko E,Arbeeva L,Bagley O,Duan M,Yashkin A,Fang F,Kovtun M,Ukraintseva SV,Wu D,Yashin AI

更新日期：2016-11-10 00:00:00

abstract：:The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular basis of quantitative traits as well as human genetic diseases. Genome sequencing of multiple organisms of the same species provides an efficient means of cataloging rearrangements, insertion,...

journal_title：PLoS genetics

authors： Doniger SW,Kim HS,Swain D,Corcuera D,Williams M,Yang SP,Fay JC

更新日期：2008-08-29 00:00:00

abstract：:Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed D...

journal_title：PLoS genetics

authors： Jin S,Lee YK,Lim YC,Zheng Z,Lin XM,Ng DP,Holbrook JD,Law HY,Kwek KY,Yeo GS,Ding C

更新日期：2013-06-01 00:00:00

abstract：:People who begin daily smoking at an early age are at greater risk of long-term nicotine addiction. We tested the hypothesis that associations between nicotinic acetylcholine receptor (nAChR) genetic variants and nicotine dependence assessed in adulthood will be stronger among smokers who began daily nicotine exposure...

journal_title：PLoS genetics

authors： Weiss RB,Baker TB,Cannon DS,von Niederhausern A,Dunn DM,Matsunami N,Singh NA,Baird L,Coon H,McMahon WM,Piper ME,Fiore MC,Scholand MB,Connett JE,Kanner RE,Gahring LC,Rogers SW,Hoidal JR,Leppert MF

更新日期：2008-07-11 00:00:00

abstract：:Craniofacial abnormalities, including facial skeletal defects, comprise approximately one-third of all birth defects in humans. Since most bones in the face derive from cranial neural crest cells (CNCCs), which are multipotent stem cells, craniofacial bone disorders are largely attributed to defects in CNCCs. However,...

journal_title：PLoS genetics

authors： Kitami K,Kitami M,Kaku M,Wang B,Komatsu Y

更新日期：2018-05-02 00:00:00

abstract：:Entry into mitosis is triggered by activation of Cdk1 and inactivation of its counteracting phosphatase PP2A/B55. Greatwall kinase inactivates PP2A/B55 via its substrates Ensa and ARPP19. Both Greatwall and Ensa/ARPP19 are regulated by phosphorylation, but the dynamic regulation of Greatwall activity and the phosphata...

journal_title：PLoS genetics

authors： Hégarat N,Vesely C,Vinod PK,Ocasio C,Peter N,Gannon J,Oliver AW,Novák B,Hochegger H

更新日期：2014-01-01 00:00:00

abstract：:The bacterium Neisseria meningitidis is commonly found harmlessly colonising the mucosal surfaces of the human nasopharynx. Occasionally strains can invade host tissues causing septicaemia and meningitis, making the bacterium a major cause of morbidity and mortality in both the developed and developing world. The spec...

journal_title：PLoS genetics

authors： Bentley SD,Vernikos GS,Snyder LA,Churcher C,Arrowsmith C,Chillingworth T,Cronin A,Davis PH,Holroyd NE,Jagels K,Maddison M,Moule S,Rabbinowitsch E,Sharp S,Unwin L,Whitehead S,Quail MA,Achtman M,Barrell B,Saunders NJ

更新日期：2007-02-16 00:00:00

abstract：:The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11....

journal_title：PLoS genetics

authors： Lacaria M,Saha P,Potocki L,Bi W,Yan J,Girirajan S,Burns B,Elsea S,Walz K,Chan L,Lupski JR,Gu W

更新日期：2012-01-01 00:00:00

abstract：:Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the ...

journal_title：PLoS genetics

authors： Ottaviani A,Rival-Gervier S,Boussouar A,Foerster AM,Rondier D,Sacconi S,Desnuelle C,Gilson E,Magdinier F

更新日期：2009-02-01 00:00:00

abstract：:DNA methylation is an evolutionarily conserved epigenetic modification that is critical for gene silencing and the maintenance of genome integrity. In Arabidopsis thaliana, the de novo DNA methyltransferase, domains rearranged methyltransferase 2 (DRM2), is targeted to specific genomic loci by 24 nt small interfering ...

journal_title：PLoS genetics

authors： Law JA,Vashisht AA,Wohlschlegel JA,Jacobsen SE

更新日期：2011-07-01 00:00:00

abstract：:The heterochromatin-enriched HP1 proteins play a critical role in regulation of transcription. These proteins contain two related domains known as the chromo- and the chromoshadow-domain. The chromo-domain binds histone H3 tails methylated on lysine 9. However, in vivo and in vitro experiments have shown that the affi...

journal_title：PLoS genetics

authors： Lavigne M,Eskeland R,Azebi S,Saint-André V,Jang SM,Batsché E,Fan HY,Kingston RE,Imhof A,Muchardt C

更新日期：2009-12-01 00:00:00

abstract：:At the molecular level, the evolution of new traits can be broadly divided between changes in gene expression and changes in protein-coding sequence. For proteins, the evolution of novel functions is generally thought to proceed through sequential point mutations or recombination of whole functional units. In Saccharo...

journal_title：PLoS genetics

authors： Baker EP,Hittinger CT

更新日期：2019-04-04 00:00:00

abstract：:Mutational fitness effects can be measured with relatively high accuracy in viruses due to their small genome size, which facilitates full-length sequencing and genetic manipulation. Previous work has shown that animal and plant RNA viruses are very sensitive to mutation. Here, we characterize mutational fitness effec...

journal_title：PLoS genetics

authors： Domingo-Calap P,Cuevas JM,Sanjuán R

更新日期：2009-11-01 00:00:00

abstract：:In haploid cells of Ogataea (Hansenula) polymorpha an environmental signal, nitrogen starvation, induces a reversible change in the structure of a chromosome. This process, mating-type switching, inverts a 19-kb DNA region to place either MATa or MATα genes under centromeric repression of transcription, depending on t...

journal_title：PLoS genetics

authors： Hanson SJ,Byrne KP,Wolfe KH

更新日期：2017-11-27 00:00:00

abstract：:More than 5% of alternatively spliced internal exons in the human genome are derived from Alu elements in a process termed exonization. Alus are comprised of two homologous arms separated by an internal polypyrimidine tract (PPT). In most exonizations, splice sites are selected from within the same arm. We hypothesize...

journal_title：PLoS genetics

authors： Gal-Mark N,Schwartz S,Ram O,Eyras E,Ast G

更新日期：2009-11-01 00:00:00

abstract：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 00:00:00

abstract：:Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a po...

journal_title：PLoS genetics

authors： Simsek D,Brunet E,Wong SY,Katyal S,Gao Y,McKinnon PJ,Lou J,Zhang L,Li J,Rebar EJ,Gregory PD,Holmes MC,Jasin M

更新日期：2011-06-01 00:00:00

abstract：:Understanding the transcriptional regulation of pluripotent cells is of fundamental interest and will greatly inform efforts aimed at directing differentiation of embryonic stem (ES) cells or reprogramming somatic cells. We first analyzed the transcriptional profiles of mouse ES cells and primordial germ cells and ide...

journal_title：PLoS genetics

authors： Grskovic M,Chaivorapol C,Gaspar-Maia A,Li H,Ramalho-Santos M

更新日期：2007-08-01 00:00:00

abstract：:The heteropentameric condensin complexes have been shown to participate in mitotic chromosome condensation and to be required for unperturbed chromatid segregation in nuclear divisions. Vertebrates have two condensin complexes, condensin I and condensin II, which contain the same structural maintenance of chromosomes ...

journal_title：PLoS genetics

authors： Herzog S,Nagarkar Jaiswal S,Urban E,Riemer A,Fischer S,Heidmann SK

更新日期：2013-04-01 00:00:00

abstract：:Movement of the transcription machinery along a template alters DNA topology resulting in the accumulation of supercoils in DNA. The positive supercoils generated ahead of transcribing RNA polymerase (RNAP) and the negative supercoils accumulating behind impose severe topological constraints impeding transcription pro...

journal_title：PLoS genetics

authors： Ahmed W,Sala C,Hegde SR,Jha RK,Cole ST,Nagaraja V

更新日期：2017-05-02 00:00:00

abstract：:The Unfolded Protein Response (UPR) maintains homeostasis in the endoplasmic reticulum (ER) and defends against ER stress, an underlying factor in various human diseases. During the UPR, numerous genes are activated that sustain and protect the ER. These responses are known to involve the canonical UPR transcription f...

journal_title：PLoS genetics

authors： Glover-Cutter KM,Lin S,Blackwell TK

更新日期：2013-01-01 00:00:00

abstract：:Chemosensory pheromonal information regulates aggression and reproduction in many species, but how pheromonal signals are transduced to reliably produce behavior is not well understood. Here we demonstrate that the pheromonal signals detected by Gr32a-expressing chemosensory neurons to enhance male aggression are filt...

journal_title：PLoS genetics

authors： Andrews JC,Fernández MP,Yu Q,Leary GP,Leung AK,Kavanaugh MP,Kravitz EA,Certel SJ

更新日期：2014-05-22 00:00:00

abstract：:Genome-wide association studies have shown that pleiotropy is a common phenomenon that can potentially be exploited for enhanced detection of susceptibility loci. We propose heritability informed power optimization (HIPO) for conducting powerful pleiotropic analysis using summary-level association statistics. We find ...

journal_title：PLoS genetics

authors： Qi G,Chatterjee N

更新日期：2018-10-05 00:00:00

abstract：:We recently discovered a secreted and diffusible midline cue called MADD-4 (an ADAMTSL) that guides migrations along the dorsoventral axis of the nematode Caenorhabditis elegans. We showed that the transmembrane receptor, UNC-40 (DCC), whose canonical ligand is the UNC-6 (netrin) guidance cue, is required for extensio...

journal_title：PLoS genetics

authors： Chan KK,Seetharaman A,Bagg R,Selman G,Zhang Y,Kim J,Roy PJ

更新日期：2014-08-14 00:00:00

abstract：:Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxin...

journal_title：PLoS genetics

authors： Downey CM,Horton CR,Carlson BA,Parsons TE,Hatfield DL,Hallgrímsson B,Jirik FR

更新日期：2009-08-01 00:00:00

abstract：:Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Droso...

journal_title：PLoS genetics

authors： Yang Y,Xu S,Xia L,Wang J,Wen S,Jin P,Chen D

更新日期：2009-04-01 00:00:00

abstract：:Integration of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is needed to improve our understanding of the biological mechanisms underlying GWAS hits, and our ability to identify therapeutic targets. Gene-level association methods such as PrediXcan can prioritize candidat...

journal_title：PLoS genetics

authors： Barbeira AN,Pividori M,Zheng J,Wheeler HE,Nicolae DL,Im HK

更新日期：2019-01-22 00:00:00

abstract：:Neuronal cargos are differentially targeted to either axons or dendrites, and this polarized cargo targeting critically depends on the interaction between microtubules and molecular motors. From a forward mutagenesis screen, we identified a gain-of-function mutation in the C. elegans α-tubulin gene mec-12 that trigger...

journal_title：PLoS genetics

authors： Hsu JM,Chen CH,Chen YC,McDonald KL,Gurling M,Lee A,Garriga G,Pan CL

更新日期：2014-11-13 00:00:00

abstract：:A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in t...

journal_title：PLoS genetics

authors： Brennan P,Wild CP

更新日期：2015-11-05 00:00:00

abstract：:The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we teste...

journal_title：PLoS genetics

authors： Vijai J,Kirchhoff T,Schrader KA,Brown J,Dutra-Clarke AV,Manschreck C,Hansen N,Rau-Murthy R,Sarrel K,Przybylo J,Shah S,Cheguri S,Stadler Z,Zhang L,Paltiel O,Ben-Yehuda D,Viale A,Portlock C,Straus D,Lipkin SM,Lacher

更新日期：2013-01-01 00:00:00