نتایج جستجو برای: triplication
تعداد نتایج: 451 فیلتر نتایج به سال:
Lettuce (Lactuca sativa) is a major crop and a member of the large, highly successful Compositae family of flowering plants. Here we present a reference assembly for the species and family. This was generated using whole-genome shotgun Illumina reads plus in vitro proximity ligation data to create large superscaffolds; it was validated genetically and superscaffolds were oriented in genetic bin...
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism. These genetic findings suggest that the ubiquitin ligase activity of UBE3A must be tightly maintained to promote normal brain development. Here, we found that protein kinase A (PKA) phosphorylates UBE3A in a region outside of the catalytic domain at re...
Gut Month 2017 Vol 0 No 0 Figure 1 Schematic illustration of the PRSS1 (as well as PRSS2) duplication CNVs whose breakpoints have been characterised at the nucleotide sequence level. The start and end positions of each duplicated segment are indicated in accordance with human GRCh38/hg38. The critical region contained within these duplicated sequences is indicated by vertical dotted lines. Wher...
Secondary growth and the development of woody tissue is a key process in the formation of woody biomass. The gene family of Class III HDZip genes has been shown in the herbaceous Arabidopsis model to play a central role in regulating polarity and vascular development. While Arabidopis is a poor model for investigating processes of wood formation, in this project all poplar Class III HDZip genes...
Down syndrome (DS) is a chromosomal abnormality due to partial or complete triplication of chromosome 21 (HSA21), and is the most common genetic cause of intellectual disability. DS may be considered a multifactorial disease, where an abnormal expression of trisomic genes arises not only from genetic, but also environ mental factors [1]. Thus, trisomy leads to a deregulated scenario that also a...
Within the Oberg, Manske, Tonkin (OMT) classification, thumb duplications are a failure of formation and/or differentiation affecting the radial-ulnar axis of the hand plate. The Wassel description of seven types of thumb duplication provides a good structure from which an approach to management is based. The aim of surgical reconstruction is to obtain a stable, mobile thumb of adequate size an...
Teleseismic recordings of direct S and sS body wave phases, and their core-reflected counterparts ScS and sScS, from intermediate and deep focus earthquakes are used to analyze the lowermost mantle shear velocity structure beneath Alaska. A model with a 2.75 % shear velocity increase 280 km above the core-mantle boundary accurately matches waveform complexities in both the S and sS wavetrains. ...
Gene duplications alter the genetic constitution of organisms and can be a driving force of molecular evolution in humans and the great apes. In this context, the study of genomic disorders has uncovered the essential role played by the genomic architecture, especially low copy repeats (LCRs) or segmental duplications (SDs). In fact, regardless of the mechanism, LCRs can mediate or stimulate re...
Recombinases are in part responsible for homologous recombination and genome integrity during DNA repair. DMC1 has a typical RecA domain, belongs to the recombinase superfamily. The reactive oxygen species (ROS) as potent damage agent is produced seed germination under stress conditions. repair should be initiated immediately allow subsequent seedling development. In this study, we attempted ch...
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