Benzophénanthridines isolées de Zanthoxylum psammophilum

Dix-huit composés dont deux nouvelles benzophénanthridines la 8-méthoxy-7,8-dihydrofagaridine 1 et la 8-acétonyl-7,8-dihydrofagaridine 2 ont été isolés des racines de Zanthoxylum psammophilum (Rutaceae). La structure de ces composés (1-18) a été déterminée principalement par l’utilisation de la spectroscopie de RMN 1D (1H et 13C) et 2D (COSY, NOESY, HSQC, HMBC). Le composé 1 a montré une activité antimicrobienne sur S. Aureus.Mots clés: Rutaceae, alcaloïdes, 8-méthoxy-7,8-dihydrofagaridine, 8- acétonyl-7,8-dihydrofagaridin

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions and duplications such as dup(4)(p16.3), dup(15)(q26qter), del(9)(q22.32q22.33), del(22)(q13) and del(5)(q35) have been identified in patients with overgrowth. Most of them, however, remain undetectable using banding karyotype analysis. In this study, we report on the analysis using a 1-Mb resolution array-based comparative genomic hybridization (CGH) of 93 patients with either a recognizable overgrowth condition (ie, Sotos syndrome or Weaver syndrome) or an unclassified overgrowth syndrome. Five clinically relevant imbalances (three duplications and two deletions) were identified and the pathogenicity of two additional anomalies (one duplication and one deletion) is discussed. Altered segments ranged in size from 0.32 to 18.2 Mb, and no recurrent abnormality was identified. These results show that array-CGH provides a high diagnostic yield in patients with overgrowth syndromes and point to novel chromosomal regions associated with these conditions. Although chromosomal deletions are usually associated with growth retardation, we found that the majority of the imbalances detected in our patients are duplications. Besides their importance for diagnosis and genetic counseling, our results may allow to delineate new contiguous gene syndromes associated with overgrowth, pointing to new genes, the deregulation of which may be responsible for growth defect

Transcriptional activation by recruitment

The recruitment model for gene activation stipulates that an activator works by bringing the transcriptional machinery to the DNA. Recent experiments in bacteria and yeast indicate that many genes can be activated by this mechanism. These findings have implications for our understanding of the nature of activating regions and their targets, and for the role of histones in gene regulation