Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection.

abstract：:Shifts between epigenetic states of transcriptional activity are typically correlated with changes in epigenetic marks. However, exceptions to this rule suggest the existence of additional, as yet uncharacterized, layers of epigenetic regulation. MOM1, a protein of 2,001 amino acids that acts as a transcriptional sile...

journal_title：PLoS genetics

authors： Nishimura T,Molinard G,Petty TJ,Broger L,Gabus C,Halazonetis TD,Thore S,Paszkowski J

更新日期：2012-02-01 00:00:00

abstract：:Association mapping is a powerful approach for dissecting the genetic architecture of complex quantitative traits using high-density SNP markers in maize. Here, we expanded our association panel size from 368 to 513 inbred lines with 0.5 million high quality SNPs using a two-step data-imputation method which combines ...

journal_title：PLoS genetics

authors： Yang N,Lu Y,Yang X,Huang J,Zhou Y,Ali F,Wen W,Liu J,Li J,Yan J

更新日期：2014-09-11 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified chromosomal loci that affect risk of coronary heart disease (CHD) independent of classical risk factors. One such association signal has been identified at 6q23.2 in both Caucasians and East Asians. The lead CHD-associated polymorphism in this region, rs12190287, ...

journal_title：PLoS genetics

authors： Miller CL,Haas U,Diaz R,Leeper NJ,Kundu RK,Patlolla B,Assimes TL,Kaiser FJ,Perisic L,Hedin U,Maegdefessel L,Schunkert H,Erdmann J,Quertermous T,Sczakiel G

更新日期：2014-03-27 00:00:00

abstract：:A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

journal_title：PLoS genetics

authors： Tsujimura T,Hosoya T,Kawamura S

更新日期：2010-12-16 00:00:00

abstract：:Adipose tissue lipolysis occurs during the development of heart failure as a consequence of chronic adrenergic stimulation. However, the impact of enhanced adipose triacylglycerol hydrolysis mediated by adipose triglyceride lipase (ATGL) on cardiac function is unclear. To investigate the role of adipose tissue lipolys...

journal_title：PLoS genetics

authors： Salatzki J,Foryst-Ludwig A,Bentele K,Blumrich A,Smeir E,Ban Z,Brix S,Grune J,Beyhoff N,Klopfleisch R,Dunst S,Surma MA,Klose C,Rothe M,Heinzel FR,Krannich A,Kershaw EE,Beule D,Schulze PC,Marx N,Kintscher U

更新日期：2018-01-10 00:00:00

abstract：:Progesterone, via the progesterone receptor (PGR), is essential for endometrial stromal cell decidualization, a cellular transformation event in which stromal fibroblasts differentiate into decidual cells. Uterine decidualization supports embryo implantation and placentation as well as subsequent events, which togethe...

journal_title：PLoS genetics

authors： Kommagani R,Szwarc MM,Vasquez YM,Peavey MC,Mazur EC,Gibbons WE,Lanz RB,DeMayo FJ,Lydon JP

更新日期：2016-04-01 00:00:00

abstract：:Chromosome breakage is a major threat to genome integrity. The most accurate way to repair DNA double strand breaks (DSB) is homologous recombination (HR) with an intact copy of the broken locus. Mobility of the broken DNA has been seen to increase during the search for a donor copy. Observing chromosome dynamics duri...

journal_title：PLoS genetics

authors： Saad H,Gallardo F,Dalvai M,Tanguy-le-Gac N,Lane D,Bystricky K

更新日期：2014-03-13 00:00:00

abstract：:The requirements for oocyte meiotic cytokinesis during polar body extrusion are not well understood. In particular, the relationship between the oocyte meiotic spindle and polar body contractile ring dynamics remains largely unknown. We have used live cell imaging and spindle assembly defective mutants lacking the fun...

journal_title：PLoS genetics

authors： Schlientz AJ,Bowerman B

更新日期：2020-10-07 00:00:00

abstract：:Genome-wide association studies (GWAS) have now been conducted for hundreds of phenotypes of relevance to human health. Many such GWAS involve multiple closely-related phenotypes collected on the same samples. However, the vast majority of these GWAS have been analyzed using simple univariate analyses, which consider ...

journal_title：PLoS genetics

authors： Turchin MC,Stephens M

更新日期：2019-10-09 00:00:00

abstract：:Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs. While lesions different from ICLs can also trigg...

journal_title：PLoS genetics

authors： Federico MB,Vallerga MB,Radl A,Paviolo NS,Bocco JL,Di Giorgio M,Soria G,Gottifredi V

更新日期：2016-01-14 00:00:00

abstract：:Centromere sequences are not conserved between species, and there is compelling evidence for epigenetic regulation of centromere identity, with location being dictated by the presence of chromatin containing the histone H3 variant CENP-A. Paradoxically, in most organisms CENP-A chromatin generally occurs on particular...

journal_title：PLoS genetics

authors： Catania S,Pidoux AL,Allshire RC

更新日期：2015-03-04 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：:Almost 60 years ago, Severo Ochoa was awarded the Nobel Prize in Physiology or Medicine for his discovery of the enzymatic synthesis of RNA by polynucleotide phosphorylase (PNPase). Although this discovery provided an important tool for deciphering the genetic code, subsequent work revealed that the predominant functi...

journal_title：PLoS genetics

authors： Cameron TA,Matz LM,De Lay NR

更新日期：2018-10-11 00:00:00

abstract：:Recent genome-wide meta-analyses identified 157 loci associated with cross-sectional lipid traits. Here we tested whether these loci associate (singly and in trait-specific genetic risk scores [GRS]) with longitudinal changes in total cholesterol (TC) and triglyceride (TG) levels in a population-based prospective coho...

journal_title：PLoS genetics

authors： Varga TV,Sonestedt E,Shungin D,Koivula RW,Hallmans G,Escher SA,Barroso I,Nilsson P,Melander O,Orho-Melander M,Renström F,Franks PW

更新日期：2014-06-12 00:00:00

abstract：:It is now widely recognized that robustness is an inherent property of biological systems [1],[2],[3]. The contribution of close sequence homologs to genetic robustness against null mutations has been previously demonstrated in simple organisms [4],[5]. In this paper we investigate in detail the contribution of gene d...

journal_title：PLoS genetics

authors： Hsiao TL,Vitkup D

更新日期：2008-03-14 00:00:00

abstract：:Significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome association studies. These studies rely on the extent of association, i.e., linkage disequilibrium (LD), between single nucleotide polymorphisms (SNPs) across the human genome. LD describes the nonrandom associat...

journal_title：PLoS genetics

authors： Eberle MA,Rieder MJ,Kruglyak L,Nickerson DA

更新日期：2006-09-08 00:00:00

abstract：:Centrioles are microtubule-based organelles important for the formation of cilia, flagella and centrosomes. Despite progress in understanding the underlying assembly mechanisms, how centriole integrity is ensured is incompletely understood, including in sperm cells, where such integrity is particularly critical. We id...

journal_title：PLoS genetics

authors： von Tobel L,Mikeladze-Dvali T,Delattre M,Balestra FR,Blanchoud S,Finger S,Knott G,Müller-Reichert T,Gönczy P

更新日期：2014-11-20 00:00:00

abstract：:Homology-dependent repair of DNA double-strand breaks (DSBs) by gene conversion involves short tracts of DNA synthesis and limited loss of heterozygosity (LOH). For DSBs that present only one end, repair occurs by invasion into a homologous sequence followed by replication to the end of the chromosome resulting in ext...

journal_title：PLoS genetics

authors： Marrero VA,Symington LS

更新日期：2010-07-08 00:00:00

abstract：:Genome-wide association studies (GWAS) have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, comple...

journal_title：PLoS genetics

authors： Braun R,Buetow K

更新日期：2011-06-01 00:00:00

abstract：:HSPB7 is a member of the small heat-shock protein (HSPB) family and is expressed in the cardiomyocytes from cardiogenesis onwards. A dramatic increase in HSPB7 is detected in the heart and blood plasma immediately after myocardial infarction. Additionally, several single-nucleotide polymorphisms of HSPB7 have been ide...

journal_title：PLoS genetics

authors： Liao WC,Juo LY,Shih YL,Chen YH,Yan YT

更新日期：2017-08-21 00:00:00

abstract：:RNA silencing is a defense system against "genomic parasites" such as transposable elements (TE), which are potentially harmful to host genomes. In plants, transcripts from TEs induce production of double-stranded RNAs (dsRNAs) and are processed into small RNAs (small interfering RNAs, siRNAs) that suppress TEs by RNA...

journal_title：PLoS genetics

authors： Nosaka M,Itoh J,Nagato Y,Ono A,Ishiwata A,Sato Y

更新日期：2012-09-01 00:00:00

abstract：:Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephroli...

journal_title：PLoS genetics

authors： Urabe Y,Tanikawa C,Takahashi A,Okada Y,Morizono T,Tsunoda T,Kamatani N,Kohri K,Chayama K,Kubo M,Nakamura Y,Matsuda K

更新日期：2012-01-01 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：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number ...

journal_title：PLoS genetics

authors： Pylkäs K,Vuorela M,Otsukka M,Kallioniemi A,Jukkola-Vuorinen A,Winqvist R

更新日期：2012-01-01 00:00:00

abstract：:Microbial populations founded by a single clone and propagated under resource limitation can become polymorphic. We sought to elucidate genetic mechanisms whereby a polymorphism evolved in Escherichia coli under glucose limitation and persisted because of cross-feeding among multiple adaptive clones. Apart from a 29 k...

journal_title：PLoS genetics

authors： Kinnersley MA,Holben WE,Rosenzweig F

更新日期：2009-11-01 00:00:00

abstract：:The gene encoding the GroEL chaperonin is duplicated in nearly 30% of bacterial genomes; and although duplicated groEL genes have been comprehensively determined to have distinct physiological functions in different species, the mechanisms involved have not been characterized to date. Myxococcus xanthus DK1622 has two...

journal_title：PLoS genetics

authors： Wang Y,Zhang WY,Zhang Z,Li J,Li ZF,Tan ZG,Zhang TT,Wu ZH,Liu H,Li YZ

更新日期：2013-01-01 00:00:00

abstract：:Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 1...

journal_title：PLoS genetics

authors： Graff M,Scott RA,Justice AE,Young KL,Feitosa MF,Barata L,Winkler TW,Chu AY,Mahajan A,Hadley D,Xue L,Workalemahu T,Heard-Costa NL,den Hoed M,Ahluwalia TS,Qi Q,Ngwa JS,Renström F,Quaye L,Eicher JD,Hayes JE,Corneli

更新日期：2017-04-27 00:00:00

abstract：:Rhizobial infection of legume root hairs requires a rearrangement of the actin cytoskeleton to enable the establishment of plant-made infection structures called infection threads. In the SCAR/WAVE (Suppressor of cAMP receptor defect/WASP family verpolin homologous protein) actin regulatory complex, the conserved N-te...

journal_title：PLoS genetics

authors： Qiu L,Lin JS,Xu J,Sato S,Parniske M,Wang TL,Downie JA,Xie F

更新日期：2015-10-30 00:00:00

abstract：:X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., "MTMRs"). Biochemically, catalytically inacti...

journal_title：PLoS genetics

authors： Gupta VA,Hnia K,Smith LL,Gundry SR,McIntire JE,Shimazu J,Bass JR,Talbot EA,Amoasii L,Goldman NE,Laporte J,Beggs AH

更新日期：2013-06-01 00:00:00