31 research outputs found

    Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

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    Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease. An example of this is the short stature homeobox (SHOX) gene, regulated by seven CNEs located downstream and upstream of SHOX, with proven enhancer capacity in chicken limbs. CNVs of the downstream CNEs have been reported in many idiopathic short stature (ISS) cases, however, only recently have a few CNVs of the upstream enhancers been identified. Here, we set out to provide insight into: (i) the cis-regulatory role of these upstream CNEs in human cells, (ii) the prevalence of upstream CNVs in ISS, and (iii) the chromatin architecture of the SHOX cis-regulatory landscape in chicken and human cells. Firstly, luciferase assays in human U2OS cells, and 4C-seq both in chicken limb buds and human U2OS cells, demonstrated cis-regulatory enhancer capacities of the upstream CNEs. Secondly, CNVs of these upstream CNEs were found in three of 501 ISS patients. Finally, our 4C-seq interaction map of the SHOX region reveals a cis-regulatory domain spanning more than 1 Mb and harbouring putative new cis-regulatory elementsThis study is supported by FWO grant G079711N (CIS-CODE). Spanish and Andalusian government grants BFU2010-14839, BFU2013-41322-P, and BIO-396 to J.L.G.S. and SAF2012-30871 to K.E.H. and S.B.S. Andalusian government supports A.F.M. as the scientific manager of the CABD´s Aquatic Vertebrates Platform. CIBERER supports S.B.S

    Modeling the coke formation in the convection section tubes of a steam cracker

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    The presence of liquid hydrocarbon droplets in the convection section of a steam cracker may cause serious fouling problems due to coke formation, especially in high temperature zones. In order to investigate these fouling problems, a model has been developed and implemented in a CFD code to accurately simulate the behavior of a hydrocarbon droplet impinging on a hot surface. The impact energy of the droplet and the hot surface temperature are found to determine the impact behavior. On the basis of the newly developed model, the positions where droplets preferentially collide with the convection section tube walls and liquid material is deposited are determined. Furthermore, a kinetic model describing coke formation out of liquid hydrocarbon droplets in the temperature range of 450-700 K has been developed to calculate the rate of coke formation in each zone of the convection section tube. The calculated coke layer thickness on the most vulnerable tube locations and the industrially available values correspond remarkably well

    MOLECULAR CHARACTERISATION OF FLOWER COLOUR GENES IN AZALEA SPORTS (RHODODENDRON SIMSII HYBRIDS

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    New flower colours and new colour patterns have always been of great interest to breeders, who are constantly on the lookout for new sources of variation with which to extend their range of cultivars. In azalea, the sporting phenomenon provides a rapid means for expanding the assortment. The insight into the molecular mechanism behind the sport induction phenomenon would be beneficial for breeding programs. The first requirement to accomplish this goal is to molecularly characterise the phenotypic differences between sports. Here we report the isolation and characterisation of the flavonoid pigment genes dihydroflavonol 4'-reductase and chalcone synthase

    Molecular characterisation of flower colour genes in Azalea sports (Rhododendron simsii hybrids)

    No full text
    New flower colours and new colour patterns have always been of great interest to breeders, who are constantly on the lookout for new sources of variation with which to extend their range of cultivars. In azalea, the sporting phenomenon provides a rapid means for expanding the assortment. The insight into the molecular mechanism behind the sport induction phenomenon would be beneficial for breeding programs. The first requirement to accomplish this goal is to molecularly characterise the phenotypic differences between sports. Here we report the isolation and characterisation of the flavonoid pigment genes dihydroflavonol 4'-reductase and chalcone synthase
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