Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes. Furthermore, such mutations have recently been described in a few autistic patients. In this study, a large sample of individuals with autism was screened in order to elucidate systematically whether specific mutations in MECP2 play a role in autism. The mutation analysis of the coding sequence of the gene was performed by denaturing high-pressure liquid chromatography and direct sequencing. Taken together, 14 sequence variants were identified in 152 autistic patients from 134 German families and 50 unrelated patients from the International Molecular Genetic Study of Autism Consortium affected relative-pair sample. Eleven of these variants were excluded for having an aetiological role as they were either silent mutations, did not cosegregate with autism in the pedigrees of the patients or represented known polymorphisms. The relevance of the three remaining mutations towards the aetiology of autism could not be ruled out, although they were not localised within functional domains of MeCP2 and may be rare polymorphisms. Taking into account the large size of our sample, we conclude that mutations in the coding region of MECP2 do not play a major role in autism susceptibility. Therefore, infantile autism and Rett syndrome probably represent two distinct entities at the molecular genetic level.     

植物下胚轴向光弯曲机制研究进展

植物向光弯曲生长主要是由于其向光和背光面生长素的不对称分布引起。近年来研究发现,在不同强度的蓝光单侧照射下,植物可能存在不同的向光弯曲调节机制。目前,关于向光素PHOT1介导弱蓝光引起的下胚轴弯曲研究较为详细,即PHOT1感受蓝光后,与其下游的信号蛋白NPH3、RPT2和PKS1相互作用,调控生长素运输蛋白的活性及定位,诱导生长素的不对称分布引起向光弯曲。PHOT1和PHOT2以功能冗余方式调节强蓝光引起的植物下胚轴向光弯曲,NPH3可能作为共享调节因子,引发不同的信号转导通路实现功能互补。此外,其他光受体、激素、蛋白激酶、蛋白磷酸酶以及Ca2＋也参与了植物向光弯曲的调节。本文就近年来有关植物下胚轴向光弯曲信号组分及可能的网络关系进行总结,并对该研究领域存在的问题及今后可能的研究方向进行展望。     

Methods for homocysteine analysis and biological relevance of the results

It is now widely accepted that increased total plasma homocysteine (tHcy) is a risk factor for cardiovascular disease. Hyperhomocysteinemia can be caused by impaired enzyme function as a result of genetic mutation or vitamin B (B(2), B(6), B(9), B(12)) deficiency. A lot of methods are now available for tHcy determination. High-pressure liquid chromatography (HPLC) with fluorescence detection are at present the most widely used methods but immunoassays, easier to use, begin to supplant in-house laboratory methods. In order to help with the choice of a main relevant homocysteine analytical method, the characteristics, performances and limits of the main current methods are reviewed. One major drawback among all these available methods is the transferability which is not clearly established to date. The impact of both inter-method and inter-laboratory variations on the interpretation of the tHcy results are discussed.     

完全树构建中的关键领域:rRNA 序列与超级树

20年来,分子系统学在理论和实践方面都有飞速的发展.随着可用分子标记和所涉及阶元数量的增多和范围的扩大,以及计算能力的进步,人们对完全树(universal tree)将地球上所有物种囊括在内、描述其间的亲缘关系的系统发育树的憧憬正在逐步成为现实.由于rDNA/rRNA是惟一作为所有细胞生命形式所共有的分子标记,其在构建完全树的过程中具有不可替代的作用.近5年,超级树(supertree)的技术逐步完善,已经在若干类群中有良好的应用,形成了系统发育与进化生物学领域的研究前沿之一,为最终获得完全树奠定了坚实的基础.