Genomic variation predicts adaptive evolutionary responses better than population bottleneck history.

abstract：:The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and has been postulated to be governed by symmetric versus asymmetric ...

journal_title：PLoS genetics

authors： Sakai D,Dixon J,Dixon MJ,Trainor PA

更新日期：2012-01-01 00:00:00

abstract：:Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). Rare genetic mutations in genes such as Parkin, Pink1, DJ-1, α-synuclein, LRRK2 and GBA are found to be responsible for the disease in about 15% of the cases. A key u...

journal_title：PLoS genetics

authors： Giguère N,Delignat-Lavaud B,Herborg F,Voisin A,Li Y,Jacquemet V,Anand-Srivastava M,Gether U,Giros B,Trudeau LÉ

更新日期：2019-08-26 00:00:00

abstract：:MicroRNAs (miRNAs) post-transcriptionally regulate the expression of thousands of distinct mRNAs. While some regulatory interactions help to maintain basal cellular functions, others are likely relevant in more specific settings, such as response to stress. Here we describe such a role for the mir-290-295 cluster, the...

journal_title：PLoS genetics

authors： Zheng GX,Ravi A,Calabrese JM,Medeiros LA,Kirak O,Dennis LM,Jaenisch R,Burge CB,Sharp PA

更新日期：2011-05-01 00:00:00

abstract：:We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in orde...

journal_title：PLoS genetics

authors： Marcheco-Teruel B,Parra EJ,Fuentes-Smith E,Salas A,Buttenschøn HN,Demontis D,Torres-Español M,Marín-Padrón LC,Gómez-Cabezas EJ,Alvarez-Iglesias V,Mosquera-Miguel A,Martínez-Fuentes A,Carracedo A,Børglum AD,Mors O

更新日期：2014-07-24 00:00:00

abstract：:Lethal recessive alleles cause pre- or postnatal death in homozygous affected individuals, reducing fertility. Especially in small size domestic and wild populations, those alleles might be exposed by inbreeding, caused by matings between related parents that inherited the same recessive lethal allele from a common an...

journal_title：PLoS genetics

authors： Derks MFL,Gjuvsland AB,Bosse M,Lopes MS,van Son M,Harlizius B,Tan BF,Hamland H,Grindflek E,Groenen MAM,Megens HJ

更新日期：2019-03-15 00:00:00

abstract：:DNA double-strand breaks (DSBs) are one of the most dangerous DNA lesions, since their erroneous repair by nonhomologous end-joining (NHEJ) can generate harmful chromosomal rearrangements. PolX DNA polymerases are well suited to extend DSB ends that cannot be directly ligated due to their particular ability to bind to...

journal_title：PLoS genetics

authors： Ruiz JF,Pardo B,Sastre-Moreno G,Aguilera A,Blanco L

更新日期：2013-01-01 00:00:00

abstract：:Mating-type switching is a complex mechanism that promotes sexual reproduction in Saccharomycotina. In the model species Saccharomyces cerevisiae, mating-type switching is initiated by the Ho endonuclease that performs a site-specific double-strand break (DSB) at MAT, repaired by homologous recombination (HR) using on...

journal_title：PLoS genetics

authors： Maroc L,Zhou-Li Y,Boisnard S,Fairhead C

更新日期：2020-10-15 00:00:00

abstract：:The human genome encodes thousands of long noncoding RNA (lncRNA) genes; the function of majority of them is poorly understood. Aberrant expression of a significant number of lncRNAs is observed in various diseases, including cancer. To gain insights into the role of lncRNAs in breast cancer progression, we performed ...

journal_title：PLoS genetics

authors： Jadaliha M,Gholamalamdari O,Tang W,Zhang Y,Petracovici A,Hao Q,Tariq A,Kim TG,Holton SE,Singh DK,Li XL,Freier SM,Ambs S,Bhargava R,Lal A,Prasanth SG,Ma J,Prasanth KV

更新日期：2018-11-29 00:00:00

abstract：:In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent of skull conformation contribute to airway disease. Norwich Terriers,...

journal_title：PLoS genetics

authors： Marchant TW,Dietschi E,Rytz U,Schawalder P,Jagannathan V,Hadji Rasouliha S,Gurtner C,Waldvogel AS,Harrington RS,Drögemüller M,Kidd J,Ostrander EA,Warr A,Watson M,Argyle D,Ter Haar G,Clements DN,Leeb T,Schoenebeck JJ

更新日期：2019-05-16 00:00:00

abstract：:In the oocytes of many animals including humans, the meiotic spindle assembles without centrosomes. It is still unclear how multiple pathways contribute to spindle microtubule assembly, and whether they are regulated differently in mitosis and meiosis. Augmin is a γ-tubulin recruiting complex which "amplifies" spindle...

journal_title：PLoS genetics

authors： Colombié N,Głuszek AA,Meireles AM,Ohkura H

更新日期：2013-06-01 00:00:00

abstract：:A variety of human diseases arise from mutations that alter muscle contraction. Evolutionary conservation allows genetic studies in Drosophila melanogaster to be used to better understand these myopathies and suggest novel therapeutic strategies. Integrin-mediated adhesion is required to support muscle structure and f...

journal_title：PLoS genetics

authors： Pronovost SM,Beckerle MC,Kadrmas JL

更新日期：2013-03-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 00:00:00

abstract：:Integration into the nuclear genome of germ line cells can lead to vertical inheritance of retroviral genes as host alleles. For other viruses, germ line integration has only rarely been documented. Nonetheless, we identified endogenous viral elements (EVEs) derived from ten non-retroviral families by systematic in si...

journal_title：PLoS genetics

authors： Katzourakis A,Gifford RJ

更新日期：2010-11-18 00:00:00

abstract：:The secondary structure of a pre-mRNA influences a number of processing steps including alternative splicing. Since most splicing regulatory proteins bind to single-stranded RNA, the sequestration of RNA into double strands could prevent their binding. Here, we analyzed the secondary structure context of experimentall...

journal_title：PLoS genetics

authors： Hiller M,Zhang Z,Backofen R,Stamm S

更新日期：2007-11-01 00:00:00

abstract：:The appropriate development of conidia and appressoria is critical in the disease cycle of many fungal pathogens, including Magnaporthe oryzae. A total of eight genes (MoHOX1 to MoHOX8) encoding putative homeobox transcription factors (TFs) were identified from the M. oryzae genome. Knockout mutants for each MoHOX gen...

journal_title：PLoS genetics

authors： Kim S,Park SY,Kim KS,Rho HS,Chi MH,Choi J,Park J,Kong S,Park J,Goh J,Lee YH

更新日期：2009-12-01 00:00:00

abstract：:Thermoanaerobic bacteria are of interest in cellulosic-biofuel production, due to their simultaneous pentose and hexose utilization (co-utilization) and thermophilic nature. In this study, we experimentally reconstructed the structure and dynamics of the first genome-wide carbon utilization network of thermoanaerobes....

journal_title：PLoS genetics

authors： Lin L,Song H,Tu Q,Qin Y,Zhou A,Liu W,He Z,Zhou J,Xu J

更新日期：2011-10-01 00:00:00

abstract：:Differentiating cells interact with their extracellular environment over time. Chondrocytes embed themselves in a proteoglycan (PG)-rich matrix, then undergo a developmental transition, termed "maturation," when they express ihh to induce bone in the overlying tissue, the perichondrium. Here, we ask whether PGs regula...

journal_title：PLoS genetics

authors： Eames BF,Yan YL,Swartz ME,Levic DS,Knapik EW,Postlethwait JH,Kimmel CB

更新日期：2011-08-01 00:00:00

abstract：:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...

journal_title：PLoS genetics

authors： Radner FP,Marrakchi S,Kirchmeier P,Kim GJ,Ribierre F,Kamoun B,Abid L,Leipoldt M,Turki H,Schempp W,Heilig R,Lathrop M,Fischer J

更新日期：2013-06-01 00:00:00

abstract：:Through as yet undefined proteins and pathways, the SUMO-targeted ubiquitin ligase (STUbL) suppresses genomic instability by ubiquitinating SUMO conjugated proteins and driving their proteasomal destruction. Here, we identify a critical function for fission yeast STUbL in suppressing spontaneous and chemically induced...

journal_title：PLoS genetics

authors： Heideker J,Prudden J,Perry JJ,Tainer JA,Boddy MN

更新日期：2011-03-01 00:00:00

abstract：:Cellular toxicity introduced by protein misfolding threatens cell fitness and viability. Failure to eliminate these polypeptides is associated with various aggregation diseases. In eukaryotes, the ubiquitin proteasome system (UPS) plays a vital role in protein quality control (PQC), by selectively targeting misfolded ...

journal_title：PLoS genetics

authors： Peters LZ,Karmon O,David-Kadoch G,Hazan R,Yu T,Glickman MH,Ben-Aroya S

更新日期：2015-04-28 00:00:00

abstract：:Genomic instability is a hallmark of human cancer cells. To prevent genomic instability, chromosomal DNA is faithfully duplicated in every cell division cycle, and eukaryotic cells have complex regulatory mechanisms to achieve this goal. Here, we show that untimely activation of replication origins during the G1 phase...

journal_title：PLoS genetics

authors： Tanaka S,Araki H

更新日期：2011-06-01 00:00:00

abstract：:Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis...

journal_title：PLoS genetics

authors： Delos Santos K,Kim M,Yergeau C,Jean S,Moon NS

更新日期：2019-09-05 00:00:00

abstract：:Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We an...

journal_title：PLoS genetics

authors： Kiando SR,Tucker NR,Castro-Vega LJ,Katz A,D'Escamard V,Tréard C,Fraher D,Albuisson J,Kadian-Dodov D,Ye Z,Austin E,Yang ML,Hunker K,Barlassina C,Cusi D,Galan P,Empana JP,Jouven X,Gimenez-Roqueplo AP,Bruneval P,Hyun

更新日期：2016-10-28 00:00:00

abstract：:Proteins associated with familial neurodegenerative disease often aggregate in patients' neurons. Several such proteins, e.g. TDP-43, aggregate and are toxic when expressed in yeast. Deletion of the ATXN2 ortholog, PBP1, reduces yeast TDP-43 toxicity, which led to identification of ATXN2 as an amyotrophic lateral scle...

journal_title：PLoS genetics

authors： Park S,Park SK,Watanabe N,Hashimoto T,Iwatsubo T,Shelkovnikova TA,Liebman SW

更新日期：2019-08-07 00:00:00

abstract：:ATP-dependent chromatin remodelers control DNA access for transcription, recombination, and other processes. Acf1 (also known as BAZ1A in mammals) is a defining subunit of the conserved ISWI-family chromatin remodelers ACF and CHRAC, first purified over 15 years ago from Drosophila melanogaster embryos. Much is known ...

journal_title：PLoS genetics

authors： Dowdle JA,Mehta M,Kass EM,Vuong BQ,Inagaki A,Egli D,Jasin M,Keeney S

更新日期：2013-11-01 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Male fertility requires the continuous production of high quality motile spermatozoa in abundance. Alterations in all three metrics cause oligoasthenoteratozoospermia, the leading cause of human sub/infertility. Post-mitotic spermatogenesis inclusive of several meiotic stages and spermiogenesis (terminal spermatozoa d...

journal_title：PLoS genetics

authors： Comazzetto S,Di Giacomo M,Rasmussen KD,Much C,Azzi C,Perlas E,Morgan M,O'Carroll D

更新日期：2014-10-16 00:00:00

abstract：:Gene regulatory information guides development and shapes the course of evolution. To test conservation of gene regulation within the phylum Nematoda, we compared the functions of putative cis-regulatory sequences of four sets of orthologs (unc-47, unc-25, mec-3 and elt-2) from distantly-related nematode species. Thes...

journal_title：PLoS genetics

authors： Gordon KL,Arthur RK,Ruvinsky I

更新日期：2015-05-28 00:00:00

abstract：:UTX (KDM6A) and UTY are homologous X and Y chromosome members of the Histone H3 Lysine 27 (H3K27) demethylase gene family. UTX can demethylate H3K27; however, in vitro assays suggest that human UTY has lost enzymatic activity due to sequence divergence. We produced mouse mutations in both Utx and Uty. Homozygous Utx m...

journal_title：PLoS genetics

authors： Shpargel KB,Sengoku T,Yokoyama S,Magnuson T

更新日期：2012-09-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

journal_title：PLoS genetics

authors： Hibshman JD,Hung A,Baugh LR

更新日期：2018-08-30 00:00:00