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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2–22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pathogenesis of CHD in DS. In an effort to contribute to the construction of a transcriptional map of the DS CHD region we have performed direct cDNA selection using a YAC contig that maps between ETS2 and D21S15 and cDNAs synthetised from fetal heart structures. Here we describe the identification and characterization of a new gene, WRB, that maps to 21q22.3 between ACTL5 and HMG 14 and appears to be widely expressed in adult and fetal tissues. The new gene encodes a basic protein of unknown function containing a tryptophan-rich carboxyl-terminal region and a potential nuclear localization signal. Immunofluorescence analysis shows a predominant localization in the cell nucleus. The understanding of the biological function of the protein product should clarify the potential role of WRB in the pathogenesis of DS CHD.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-5044
    Keywords: alkaloids ; Amaryllidaceae ; Narcissus confusus ; galanthamine ; in vitro organ culture ; sucrose
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract In order to produce galanthamine, an alkaloid currently being tested in Alzheimer's disease therapy, we have used in vitro organ cultures of Narcissus confusus (Amaryllidaceae) plants starting from two different explants: double scale segments with basal plate from bulbs (organogenic cultures), and mature seeds (callogenic-organogenic cultures). Shoot-clumps were induced from buds obtained from twin-scales and from organogenic calluses on a MS medium supplemented with 1 mg l−1 2,4-D and 5 mg l−1 BA. Shoot-clumps were then developed partially submerged in a liquid medium. After one month of precondition, the shoot-clumps were cultured in liquid media with different concentrations of sucrose, from 3% to 18% (w/v) for 14 days. The growth of the regenerated plants treated with 9% sucrose was significantly greater. Under a photoperiod 16 h light/8 h dark, the shoot-clump cultures subjected to the two highest sucrose concentrations gave rise to higher dry weight/fresh weight ratios. Different doses of sucrose affected not only the alkaloid profile in the shoot-clump tissues but also that excreted to the medium. In all cases, shoot cultures of N. confusus were capable of galanthamine biosynthesis, with the best results at 9% sucrose concentration.
    Type of Medium: Electronic Resource
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