Lili Wang, Li Zhan, Yan Zhao, Yongchi Huang, Chong Wu, Ting Pan, Qi Qin, Yiren Xu, Zhiping Deng, Jing Li, Honghong Hu, Shaowu Xue, Shunping Yan
DNA damage response is a fundamental mechanism to maintain genome stability. The ATR-WEE1 kinase module plays a central role in response to replication stress. Although the ATR-WEE1 pathway has been well studied in yeasts and animals, how ATR-WEE1 functions in plants remains unclear. Through a genetic screen for suppressors of the Arabidopsis atr mutant, we found that loss of function of PRL1, a core subunit of the evolutionarily conserved MAC complex involved in alternative splicing, suppresses the hypersensitivity of atr and wee1 to replication stress...
January 15, 2021: Nucleic Acids Research
Andrew-Peter-Leon M T, S Ramchander, Kumar K K, Mehanathan Muthamilarasan, M Arumugam Pillai
Introduction of semi-dwarfism and early maturity in rice cultivars is important to achieve improved plant architecture, lodging resistance and high yield. Gamma rays induced mutations are routinely used to achieve these traits. We report the development of a semi-dwarf, early maturing and high-yielding mutant of rice cultivar 'Improved White Ponni', a popular cosmopolitan variety in south India preferred for its superior grain quality traits. Through gamma rays induced mutagenesis, several mutants were developed and subjected to selection up to six generations (M6) until the superior mutants were stabilized...
2021: PloS One
Christos Dadousis, Francesca Cecchi, Michela Ablondi, Maria Chiara Fabbri, Alessandra Stella, Riccardo Bozzi
The objective of this study was to investigate the genetic diversity of the Garfagnina (GRF) goat, a breed that currently risks extinction. For this purpose, 48 goats were genotyped with the Illumina CaprineSNP50 BeadChip and analyzed together with 214 goats belonging to 9 other Italian breeds (~25 goats/breed), whose genotypes were available from the AdaptMap project [Argentata (ARG), Bionda dell'Adamello (BIO), Ciociara Grigia (CCG), Di Teramo (DIT), Garganica (GAR), Girgentana (GGT), Orobica (ORO), Valdostana (VAL) and Valpassiria (VSS)]...
2021: PloS One
Salva Duran-Nebreda, Jordi Pla, Blai Vidiella, Jordi Piñero, Nuria Conde-Pueyo, Ricard Solé
Multicellular entities are characterized by intricate spatial patterns, intimately related to the functions they perform. These patterns are often created from isotropic embryonic structures, without external information cues guiding the symmetry breaking process. Mature biological structures also display characteristic scales with repeating distributions of signals or chemical species across space. Many candidate patterning modules have been used to explain processes during development and typically include a set of interacting and diffusing chemicals or agents known as morphogens ...
January 15, 2021: ACS Synthetic Biology
Alicja Dłubała, Elżbieta Bogusławska-Wąs, Elżbieta Daczkowska-Kozon
BACKGROUND: In times when there is a growing interest in ready-to-eat food (RTEF), the presence of potentially pathogenic bacteria, including the toxigenic psychrotolerant bacilli from the B. cereus group, on this type of carrier may pose a real threat to the health of consumers. A significant part of RTEF is represented by vegetable products and food products made with them. The increased production of convenience foods has resulted in their international turnover growing. When coupled with a rising percentage of persons from risk groups (YOPI), including the elderly or immunocompromised, this may mean increased health risks posed by the so-called "novel pathogens", like the toxigenic psychrotolerant B...
January 2021: Acta Scientiarum Polonorum. Technologia Alimentaria
Guimarães M R, Anjo S I, Cunha A M, Esteves M, Sousa N, Almeida A, Manadas B, Leite-Almeida H
It remains unknown why upon similar acute/subacute painful conditions, pain persists in some individuals while in others it resolves. Genetic factors, mood, and functional alterations, particularly involving the mesolimbic network, appear to be key. In order to explore potential susceptibility/resistance factors, we screened a large population of rats with a peripheral neuropathy and we isolated a small subset (<15%) that presented high thresholds (HT) to mechanical allodynia (reduced pain manifestation)...
January 12, 2021: Pain
Lingling Yang, Sarah E Webb, Nana Jin, Heung Man Lee, Ting Fung Chan, Gang Xu, Juliana C N Chan, Andrew L Miller, Ronald C W Ma
AIMS/INTRODUCTION: β-cell dysfunction is a hallmark of type 2 diabetes. In a previous pilot study, we identified an association between genetic variants within the human DACH1 gene and young-onset type 2 diabetes. Here, we characterized the function of dachb, the only dach homologue to be expressed in the pancreas, in developing zebrafish embryos. MATERIALS AND METHODS: We injected one-cell stage embryos with a dachb-morpholino (MO) or with the dachb-MO and dachb-mRNA and determined the effect on the development of the pancreatic islet...
January 15, 2021: Journal of Diabetes Investigation
Milan Zimmermann, Leonie Köhler, Marketa Kovarova, Stefanie Lerche, Claudia Schulte, Isabel Wurster, Gerrit Machetanz, Christian Deuschle, Ann-Kathrin Hauser, Thomas Gasser, Daniela Berg, Erwin Schleicher, Walter Maetzler, Kathrin Brockmann
BACKGROUND: Parkinson´s disease (PD) has a large phenotypic variability, which may, at least partly, be genetically driven including alterations of gene products. Candidates might not only be proteins associated with disease risk but also pathways that play a role in aging. OBJECTIVE: To evaluate phenotype modifying effects of genetic variants in Klotho, a longevity gene. METHODS: We analysed two longitudinal cohorts. One local cohort comprising 459 PD patients who underwent genotyping for the KL-VS haplotype in Klotho including a subgroup of 125 PD patients and 50 healthy controls who underwent biochemical CSF analyses of Klotho and fibroblast growth factor 23 as well as Vitamin-D-metabolites...
January 15, 2021: European Journal of Neurology
Youjin Hu, Kevin Huang, Qiao Zeng, Yun Feng, Qiong Ke, Qin An, Lian-Ju Qin, YuGui Cui, Ying Guo, Dicheng Zhao, Yu Peng, Di Tian, Kun Xia, Yong Chen, Bin Ni, Jinmei Wang, Xianmin Zhu, Lai Wei, Yizhi Liu, Peng Xiang, Jia-Yin Liu, Zhigang Xue, Guoping Fan
Genetic programs underlying preimplantation development and early lineage segregation are highly conserved across mammals. It has been suggested that non-human primates would be better model organisms for human embryogenesis, but a limited number of studies have investigated the monkey preimplantation development. In this study, we collect single-cells from cynomolgus monkey preimplantation embryos for transcriptome profiling and compare with single-cell RNA-seq data derived from human and mouse embryos. By weighted gene-coexpression network analysis (WGCNA), we found that cynomolgus gene networks have greater conservation with human embryos including a greater number of conserved hub genes than that of mouse embryos...
January 15, 2021: Developmental Dynamics
Iva Popovic, Louis Bernatchez
Species distributions are rapidly being altered by human globalisation and movement. As species are moved across biogeographic boundaries, human-mediated secondary contacts between historically allopatric taxa may promote hybridisation between closely related native and introduced species. The outcomes of hybridisation are diverse from strong reproductive barriers to gene flow to genome-wide admixture that may enhance (Fitzpatrick et al., 2010; Mesgaran et al., 2016; Valencia-Montoya et al., 2020) or impede (Kovach et al...
January 15, 2021: Molecular Ecology
A A E Marcondes, T G B Gomez, T T Ravache, A Batistuzzo, F B Lorena, C S de Paula, R Lowenthal, A C Bianco, M O Ribeiro
INTRODUCTION: A polymorphism in the type 2 deiodinase (Thr92Ala-DIO2) gene has been associated with behavioral and cognitive dysfunction as well as neurodegeneration and oxidative stress in the central nervous system. OBJECTIVE: To test whether the minor allele (Ala92) frequency (MAF) is increased in children in the autism spectrum disorder (ASD), and whether carriers of the minor allele exhibit more severe symptoms and/or worse adaptive behavior. STUDY DESIGN: ASD children were evaluated at baseline and yearly throughout the study by psychologists using the following tools: autism behavior checklist, Vineland Adaptative Behaviour Scales II, non-verbal intelligence test SON-R 21/2 -7, SON-R 6-40, Weschler scale for intelligence, and autism treatment evaluation checklist...
January 15, 2021: Journal of Endocrinological Investigation
Yu Wang, Feng Liu, Manman Liu, Shitao Shi, Yuping Bi, Nansheng Chen
Ulva prolifera O.F. Müller (Ulvophyceae, Chlorophyta) is well known as a typical green-tide forming macroalga which has caused the world's largest macroalgal blooms in the Yellow Sea of China. In this study, two full-length γ-carbonic anhydrase (γ-CA) genes (UpγCA1 and UpγCA2) were cloned from U. prolifera. UpγCA1 has three conserved histidine residues, which act as an active site for binding a zinc metal ion. In UpγCA2, two of the three histidine residues were replaced by serine and arginine, respectively...
January 15, 2021: Genetica
Hagit Shani, Rinat Bernstein-Molho, Yael Laitman, Iris Netzer, Eitan Friedman
PURPOSE: The co-occurrence or double heterozygosity of pathogenic/likely pathogenic sequence variants (P/LPSVs) in major cancer susceptibility genes has rarely been reported. Such co-occurrence raises the issues of accurate genetic counseling, preferred recommended surveillance scheme, and the use of preimplantation genetic diagnosis (PGD). METHODS: A clinical report of an Ashkenazi Jewish (AJ) family with co occurrence of two PSVs in BRCA1 and TP53 and a literature search...
January 15, 2021: Breast Cancer Research and Treatment
Concepta Margaret McManus, Potira Hermuche, Renato Fontes Guimarães, Osmar Abílio de Carvalho Júnior, Bruno Stéfano Lima Dallago, Renata Augusto Vieira, Danielle Assis de Faria, Harvey Blackburn, José Carlos Ferrugem Moraes, Carlos Hoff Souza, Olivardo Facó, Adriana Mello Araújo, Hymerson Costa Azevedo, Paulo Luiz Souza Carneiro, Sandra Aparecida Santos, Paulo Sergio Ribeiro de Mattos, Samuel Rezende Paiva
There are few animal germplasm/gene bank collections in Brazil, and basic studies are needed to attend the future internal and external demands from international partners. The aim of this work was to validate a "proof of concept" that integrates spatial (georeferenced data) and genetic data regarding the local of origin from 3518 DNA samples from 17 different genetic groups or breeds of sheep in the Brazilian Germplasm bank. Spatialisation shows that not all genetic groups have samples in the bank, and collection is concentrated in the conservation nuclei spread nationwide...
January 15, 2021: Tropical Animal Health and Production
Xiaoxu Yang, Dajun Liu, Zhishan Yan, Chang Liu, Guojun Feng
Common bean (Phaseolus vulgaris L.) is a short-day plant and its flowering time, and consequently, pod yield and quality is influenced by photoperiod. In this study, the photoperiodic-sensitive variety 'Hong jin gou', which flowers 31 days (d) earlier in short-day than in long-day, was used as the experimental material. Samples were collected to determine the growth and photosynthetic parameters in each daylength treatment, and transcriptome and metabolome data were conducted. We identified eight genes related to flowering by further screening for differentially expressed genes...
January 15, 2021: Molecular Genetics and Genomics: MGG
Shufen Zhao, Shanai Song, Qi Qi, Wei Lei
The tradeoff between cost and efficiency is omnipresent in organisms. Specifically, how the evolutionary force shapes the tradeoff between biosynthetic cost and translation efficiency remains unclear. In the cancer community, whether the adjustment of cost-efficiency tradeoff acts as a strategy to facilitate tumor proliferation and contributes to oncogenesis is uninvestigated. To address this issue, we retrieved the gene expression profile in various cancer types and the matched normal samples from The Cancer Genome Atlas (TCGA)...
January 15, 2021: Molecular Genetics and Genomics: MGG
Maxime Breban, Simon Glatigny, Bilade Cherqaoui, Marie Beaufrère, Marc Lauraine, Aurore Rincheval-Arnold, Sébastien Gaumer, Isabelle Guénal, Luiza M Araujo
Understanding the complex mechanisms underlying a disorder such as spondyloarthritis (SpA) may benefit from studying animal models. Several suitable models have been developed, in particular to investigate the role of genetic factors predisposing to SpA, including HLA-B27, ERAP1, and genes related to the interleukin (IL)-23/IL-17 axis. One of the best examples of such research is the HLA-B27 transgenic rat model that fostered the emergence of original theories regarding HLA-B27 pathogenicity, including dysregulation of innate immunity, contribution of the adaptive immune system to chronic inflammation, and influence of the microbiota on disease development...
January 15, 2021: Seminars in Immunopathology
Yuning Wang, Roya Tadayon, Liliana Santamaria, Pascal Mercier, Chantal J Forristal, Gary S Shaw
The membrane protein dysferlin (DYSF) is important for calcium-activated plasma membrane repair, especially in muscle fibre cells. Nearly 600 mutations in the DYSF gene have been identified that are causative for rare genetic forms of muscular dystrophy. The dysferlin protein consists of seven C2 domains (C2A-C2G, 13%-33% identity) used to recruit calcium ions and traffic accessory proteins and vesicles to injured membrane sites needed to reseal a wound. Amongst these, the C2A is the most prominent facilitating the calcium-sensitive interaction with membrane surfaces...
January 15, 2021: Biochemical Journal
Zhengyang Song, Qian Wang, Han Zhang, Jing Tang, Qiyan Wang, Hongling Zhang, Meiqing Yang, Jingyan Ji, Zheng Ren, Yan Wu, Jiang Huang
BACKGROUND: Male-specifically inherited Y-STRs have been widely used in population genetics and forensic investigations. METHODS: We genotyped and analyzed Y chromosome haplotypes of 408 unrelated Tibeto-Burman-speaking Yi male individuals from Guizhou using Goldeneye® Y-PLUS kit. Population comparisons between the Guizhou Yi and 67 reference groups were performed via the AMOVA, MDS, and phylogenetic relationship reconstruction. RESULTS: A total of 389 alleles and 396 haplotypes could be detected, and the allelic frequencies ranged from 0...
January 15, 2021: Molecular Genetics & Genomic Medicine
Christelle Fraïsse, Iva Popovic, Clément Mazoyer, Bruno Spataro, Stéphane Delmotte, Jonathan Romiguier, Étienne Loire, Alexis Simon, Nicolas Galtier, Laurent Duret, Nicolas Bierne, Xavier Vekemans, Camille Roux
We present DILS, a deployable statistical analysis platform for conducting demographic inferences with linked selection from population genomic data using an Approximate Bayesian Computation framework. DILS takes as input single-population or two-population datasets (multilocus fasta sequences) and performs three types of analyses in a hierarchical manner, identifying: 1) the best demographic model to study the importance of gene flow and population size change on the genetic patterns of polymorphism and divergence, 2) the best genomic model to determine whether the effective size Ne and migration rate N...
January 15, 2021: Molecular Ecology Resources
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