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2020 ◽  
Vol 21 (3) ◽  
pp. 777 ◽  
Author(s):  
Lewis E. Fry ◽  
Caroline F. Peddle ◽  
Alun R. Barnard ◽  
Michelle E. McClements ◽  
Robert E. MacLaren

RNA editing aims to treat genetic disease through altering gene expression at the transcript level. Pairing site-directed RNA-targeting mechanisms with engineered deaminase enzymes allows for the programmable correction of G>A and T>C mutations in RNA. This offers a promising therapeutic approach for a range of genetic diseases. For inherited retinal degenerations caused by point mutations in large genes not amenable to single-adeno-associated viral (AAV) gene therapy such as USH2A and ABCA4, correcting RNA offers an alternative to gene replacement. Genome editing of RNA rather than DNA may offer an improved safety profile, due to the transient and potentially reversible nature of edits made to RNA. This review considers the current site-directing RNA editing systems, and the potential to translate these to the clinic for the treatment of inherited retinal degeneration.


2019 ◽  
Vol 70 (15) ◽  
pp. 3851-3866 ◽  
Author(s):  
Xiaolong Chen ◽  
Liangrong Jiang ◽  
Jingsheng Zheng ◽  
Fangyu Chen ◽  
Tiansheng Wang ◽  
...  

Abstract Grain shape is controlled by quantitative trait loci (QTLs) in rice (Oryza sativa L.). A rice mutant (JF178) with long and large grains has been used in a breeding program for over a decade, but its genetic basis has been unclear. Here, a semi-dominant QTL, designated Large Grain Size 1 (LGS1), was cloned and the potential molecular mechanism of LGS1 function was studied. Near-isogenic lines (NILs) and a map-based approach were employed to clone the LGS1 locus. LGS1 encodes the OsGRF4 transcription factor and contains a 2 bp missense mutation in the coding region that coincides with the putative pairing site of miRNA396. The LGS1 transcript levels in the mutant line were found to be higher than the lgs1 transcript levels in the control plants, suggesting that the mutation might disrupt the pairing of the LGS1 mRNA with miR396. In addition to producing larger grains, LGS1 also enhanced cold tolerance at the seedling stage and increased the survival rate of seedlings after cold stress treatment. These findings indicate that the mutation in LGS1 appears to disturb the GRF4–miR396 stress response network and results in the development of enlarged grains and enhancement of cold tolerance in rice.


Author(s):  
W.F. Marshall ◽  
A.F. Straight ◽  
A. Murray ◽  
J.C. Fung ◽  
J. Marko ◽  
...  

The polymer dynamics of interphase chromatin is at present a poorly understood aspect of nuclear organization, but one with profound consequences on events within the nucleus. The rates of many important processes, such as meiotic homolog pairing, site-specific recombination, and chromatin condensation, all involve the motion of chromatin within the nucleus. How fast can such rearrangements occur? Because interphase chromatin is likely to behave as a tangle of random-walk polymers, there is likely to be a substantial hindrance to diffusion. Therefore, the rate at which a given site on a chromosome can diffuse within the nucleus may limit the rate at which events requiring chromatin motion can occur. Furthermore, the polymer physics of interphase chromatin is an interesting line of theoretical research in its own right, and knowledge of diffusion rates is an important experimental parameter to consider when evaluating physical models. Finally, a fundamental aspect of nuclear architecture is the extent to which chromatin is anchored to a nuclear skeleton. Such matrix attachments would result in constrained diffusion, which can be detected by analysis of chromatin motion.


Genetics ◽  
1994 ◽  
Vol 136 (3) ◽  
pp. 887-902 ◽  
Author(s):  
A M Villeneuve

Abstract This study reports the characterization of a cis-acting locus on the Caenorhabditis elegans X chromosome that is crucial for promoting normal levels of crossing over specifically between the X homologs and for ensuring their proper disjunction at meiosis I. The function of this locus is disrupted by the mutation me8, which maps to the extreme left end of the X chromosome within the region previously implicated by studies of X; A translocations and X duplications to contain a meiotic pairing site. Hermaphrodites homozygous for a deletion of the locus (Df/Df) or heterozygous for a deletion and the me8 mutation (me8/Df) exhibit extremely high level of X chromosome nondisjunction at the reductional division; this is correlated with a sharp decrease in crossing over between the X homologs as evidenced both by reductions in genetic map distances and by the presence of achiasmate chromosomes in cytological preparations of oocyte nuclei. Duplications of the wild-type region that are unlinked to the X chromosome cannot complement the recombination and disjunction defects in trans, indicating that this region must be present in cis to the X chromosome to ensure normal levels of crossing over and proper homolog disjunction. me8 homozygotes exhibit an altered distribution of crossovers along the X chromosome that suggests a defect in processivity along the X chromosome of an event that initiates at the chromosome end. Models are discussed in which the cis-acting locus deleted by the Dfs functions as a meiotic pairing center that recruits trans-acting factors onto the chromosomes to nucleate assembly of a crossover-competent complex between the X homologs. This pairing center might function in the process of homolog recognition, or in the initiation of homologous synapsis.


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