Heterogeneous genomic molecular clocks in primates.

abstract：:Mutations in the human LMNA gene cause muscular dystrophy by mechanisms that are incompletely understood. The LMNA gene encodes A-type lamins, intermediate filaments that form a network underlying the inner nuclear membrane, providing structural support for the nucleus and organizing the genome. To better understand t...

journal_title：PLoS genetics

authors： Dialynas G,Shrestha OK,Ponce JM,Zwerger M,Thiemann DA,Young GH,Moore SA,Yu L,Lammerding J,Wallrath LL

更新日期：2015-05-21 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1005038.]. ...

journal_title：PLoS genetics

authors： Wen D,Rivera-Perez C,Abdou M,Jia Q,He Q,Liu X,Zyaan O,Xu J,Bendena WG,Tobe SS,Noriega FG,Palli SR,Wang J,Li S

更新日期：2017-01-20 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：:Third-generation cephalosporins are a class of β-lactam antibiotics that are often used for the treatment of human infections caused by Gram-negative bacteria, especially Escherichia coli. Worryingly, the incidence of human infections caused by third-generation cephalosporin-resistant E. coli is increasing worldwide. ...

journal_title：PLoS genetics

authors： de Been M,Lanza VF,de Toro M,Scharringa J,Dohmen W,Du Y,Hu J,Lei Y,Li N,Tooming-Klunderud A,Heederik DJ,Fluit AC,Bonten MJ,Willems RJ,de la Cruz F,van Schaik W

更新日期：2014-12-18 00:00:00

abstract：:Codon usage bias affects protein translation because tRNAs that recognize synonymous codons differ in their abundance. Although the current dogma states that tRNA expression is exclusively regulated by intrinsic control elements (A- and B-box sequences), we revealed, using a reporter that monitors the levels of indivi...

journal_title：PLoS genetics

authors： Sagi D,Rak R,Gingold H,Adir I,Maayan G,Dahan O,Broday L,Pilpel Y,Rechavi O

更新日期：2016-08-25 00:00:00

abstract：:Genome-wide scans for positively selected genes (PSGs) in mammals have provided insight into the dynamics of genome evolution, the genetic basis of differences between species, and the functions of individual genes. However, previous scans have been limited in power and accuracy owing to small numbers of available gen...

journal_title：PLoS genetics

authors： Kosiol C,Vinar T,da Fonseca RR,Hubisz MJ,Bustamante CD,Nielsen R,Siepel A

更新日期：2008-08-01 00:00:00

abstract：:Studies of synthetic, well-defined biomolecular systems can elucidate inherent capabilities that may be difficult to uncover in a native biological context. Here, we used a minimal, reconstituted translation system from Escherichia coli to identify efficient ribosome binding sites (RBSs) in an unbiased, high-throughpu...

journal_title：PLoS genetics

authors： Barendt PA,Shah NA,Barendt GA,Sarkar CA

更新日期：2012-01-01 00:00:00

abstract：:At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the instability process remain undefined. Genomic fragments from the human s...

journal_title：PLoS genetics

authors： Libby RT,Hagerman KA,Pineda VV,Lau R,Cho DH,Baccam SL,Axford MM,Cleary JD,Moore JM,Sopher BL,Tapscott SJ,Filippova GN,Pearson CE,La Spada AR

更新日期：2008-11-01 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：:Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet performance varies widely depending on the disease and genomic risk score (GRS) method. Celiac disease (CD), a common immune-mediated illness, is strongly genetically determined and requires specific HLA haplotypes. HLA t...

journal_title：PLoS genetics

authors： Abraham G,Tye-Din JA,Bhalala OG,Kowalczyk A,Zobel J,Inouye M

更新日期：2014-02-13 00:00:00

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:Human genome-wide association studies have linked single nucleotide polymorphisms (SNPs) on chromosome 9p21.3 near the INK4/ARF (CDKN2a/b) locus with susceptibility to atherosclerotic vascular disease (ASVD). Although this locus encodes three well-characterized tumor suppressors, p16(INK4a), p15(INK4b), and ARF, the S...

journal_title：PLoS genetics

authors： Burd CE,Jeck WR,Liu Y,Sanoff HK,Wang Z,Sharpless NE

更新日期：2010-12-02 00:00:00

abstract：:In order to study the role played by cellular RNA pools produced by homologous genomic loci in defining the transcriptional state of a silenced gene, we tested the effect of non-functional alleles of the white gene in the presence of a functional copy of white, silenced by heterochromatin. We found that non-functional...

journal_title：PLoS genetics

authors： Onorati MC,Arancio W,Cavalieri V,Ingrassia AM,Pavesi G,Corona DF

更新日期：2015-08-20 00:00:00

abstract：:Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag with SNP genotyping, as genotyping studies are designed to detect common variants. However, studies have shown that genetic heterogeneity is a probable scenario for common diseases, in which mu...

journal_title：PLoS genetics

authors： Madsen BE,Browning SR

更新日期：2009-02-01 00:00:00

abstract：:The coordination of growth with nutritional status is essential for proper development and physiology. Nutritional information is mostly perceived by peripheral organs before being relayed to the brain, which modulates physiological responses. Hormonal signaling ensures this organ-to-organ communication, and the failu...

journal_title：PLoS genetics

authors： Sano H,Nakamura A,Texada MJ,Truman JW,Ishimoto H,Kamikouchi A,Nibu Y,Kume K,Ida T,Kojima M

更新日期：2015-05-28 00:00:00

abstract：:We have exploited the high selectivity of the homing endonuclease I-PpoI for the X-linked Anopheles gambiae 28S ribosomal genes to selectively target X chromosome carrying spermatozoa. Our data demonstrated that in heterozygous males, the expression of I-PpoI in the testes induced a strong bias toward Y chromosome-car...

journal_title：PLoS genetics

authors： Windbichler N,Papathanos PA,Crisanti A

更新日期：2008-12-01 00:00:00

abstract：:Plant stress responses require both protective measures that reduce or restore stress-inflicted damage to cellular structures and mechanisms that efficiently remove damaged and toxic macromolecules, such as misfolded and damaged proteins. We have recently reported that NBR1, the first identified plant autophagy adapto...

journal_title：PLoS genetics

authors： Zhou J,Zhang Y,Qi J,Chi Y,Fan B,Yu JQ,Chen Z

更新日期：2014-01-30 00:00:00

abstract：:Replicative DNA helicases expose the two strands of the double helix to the replication apparatus, but accessory helicases are often needed to help forks move past naturally occurring hard-to-replicate sites, such as tightly bound proteins, RNA/DNA hybrids, and DNA secondary structures. Although the Schizosaccharomyce...

journal_title：PLoS genetics

authors： McDonald KR,Guise AJ,Pourbozorgi-Langroudi P,Cristea IM,Zakian VA,Capra JA,Sabouri N

更新日期：2016-09-09 00:00:00

abstract：:The unfolded protein response (UPR) is an adaptive signaling pathway utilized to sense and alleviate the stress of protein folding in the endoplasmic reticulum (ER). In mammals, the UPR is mediated through three proximal sensors PERK/PEK, IRE1, and ATF6. PERK/PEK is a protein kinase that phosphorylates the alpha subun...

journal_title：PLoS genetics

authors： Shen X,Ellis RE,Sakaki K,Kaufman RJ

更新日期：2005-09-01 00:00:00

abstract：:Nervous systems have the ability to select appropriate actions and action sequences in response to sensory cues. The circuit mechanisms by which nervous systems achieve choice, stability and transitions between behaviors are still incompletely understood. To identify neurons and brain areas involved in controlling the...

journal_title：PLoS genetics

authors： Masson JB,Laurent F,Cardona A,Barré C,Skatchkovsky N,Zlatic M,Jovanic T

更新日期：2020-02-14 00:00:00

abstract：:XRN2 is a conserved 5'→3' exoribonuclease that complexes with proteins that contain XRN2-binding domains (XTBDs). In Caenorhabditis elegans (C. elegans), the XTBD-protein PAXT-1 stabilizes XRN2 to retain its activity. XRN2 activity is also promoted by 3'(2'),5'-bisphosphate nucleotidase 1 (BPNT1) through hydrolysis of...

journal_title：PLoS genetics

authors： Miki TS,Carl SH,Stadler MB,Großhans H

更新日期：2016-09-15 00:00:00

abstract：:Seed development in angiosperms is dependent on the interplay among different transcriptional programs operating in the embryo, the endosperm, and the maternally-derived seed coat. In angiosperms, the embryo and the endosperm are products of double fertilization during which the two pollen sperm cells fuse with the eg...

journal_title：PLoS genetics

authors： Shirzadi R,Andersen ED,Bjerkan KN,Gloeckle BM,Heese M,Ungru A,Winge P,Koncz C,Aalen RB,Schnittger A,Grini PE

更新日期：2011-02-01 00:00:00

abstract：:Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times greater than would be expected based on the genome average mutation fr...

journal_title：PLoS genetics

authors： Choi SK,Yoon SR,Calabrese P,Arnheim N

更新日期：2012-01-01 00:00:00

abstract：:Nodal and Activin are morphogens of the TGFbeta superfamily of signaling molecules that direct differential cell fate decisions in a dose- and distance-dependent manner. During early embryonic development the Nodal/Activin pathway is responsible for the specification of mesoderm, endoderm, node, and mesendoderm. In co...

journal_title：PLoS genetics

authors： Lee KL,Lim SK,Orlov YL,Yit le Y,Yang H,Ang LT,Poellinger L,Lim B

更新日期：2011-06-01 00:00:00

abstract：:Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-trans...

journal_title：PLoS genetics

authors： Labelle-Dumais C,Dilworth DJ,Harrington EP,de Leau M,Lyons D,Kabaeva Z,Manzini MC,Dobyns WB,Walsh CA,Michele DE,Gould DB

更新日期：2011-05-01 00:00:00

abstract：:Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron ...

journal_title：PLoS genetics

authors： Farlow A,Meduri E,Dolezal M,Hua L,Schlötterer C

更新日期：2010-01-22 00:00:00

abstract：:Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations with the highest malaria intensity can be identified by the increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects population...

journal_title：PLoS genetics

authors： Gouveia MH,Bergen AW,Borda V,Nunes K,Leal TP,Ogwang MD,Yeboah ED,Mensah JE,Kinyera T,Otim I,Nabalende H,Legason ID,Mpoloka SW,Mokone GG,Kerchan P,Bhatia K,Reynolds SJ,Birtwum RB,Adjei AA,Tettey Y,Tay E,Hoover R

更新日期：2019-03-08 00:00:00

abstract：:In response to stress and injury a coordinated activation of conserved signalling modules, such as JNK and JAK/STAT, is critical to trigger regenerative tissue restoration. While these pathways rebuild homeostasis and promote faithful organ recovery, it is intriguing that they also become activated in various tumour c...

journal_title：PLoS genetics

authors： Beira JV,Torres J,Paro R

更新日期：2018-01-22 00:00:00

abstract：:Knowledge of the functional cis-regulatory elements that regulate constitutive and alternative pre-mRNA splicing is fundamental for biology and medicine. Here we undertook a genome-wide comparative genomics approach using available mammalian genomes to identify conserved intronic splicing regulatory elements (ISREs). ...

journal_title：PLoS genetics

authors： Yeo GW,Van Nostrand EL,Liang TY

更新日期：2007-05-25 00:00:00

abstract：:Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to f...

journal_title：PLoS genetics

authors： Mughal MR,Koch H,Huang J,Chiaromonte F,DeGiorgio M

更新日期：2020-08-27 00:00:00