Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

The microtubule-associated protein tau (encoded by MAPT) and several tau kinases have been implicated in neurodegeneration, but only MAPT has a proven role in disease. We identified mutations in the gene encoding tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11. Affected brain tissue showed substantial cerebellar degeneration and tau deposition. These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.     

Variation in complement factor 3 is associated with risk of age-related macular degeneration

The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample.     

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.     

中朝板块北缘志留纪海岛的发现

在内蒙古达尔罕茂明安联合旗北部巴特敖包地区发现了志留纪的海岸带及其底栖无脊椎动物化石（层孔虫、日射与床板珊瑚等）,证实当时该地发育一个位于中朝古板块北缘大陆棚上的小海岛,将其命名为巴特岛．该岛的基部由奥陶纪火成岩组成,长、短轴分别为６１０和２００ｍ,现今呈北东－南西向延伸．志留纪罗德洛世（距今约４２０Ｍａ）的地层围绕该岛分布,产状向四周倾状．巴特岛的南缘（背风）发育皮壳状生物,栖息在火成岩顶面并被     

On the self-association potential of transmembrane tight junction proteins

Tight junctions seal intercellular clefts via membrane-related strands, hence, maintaining important organ functions. We investigated the self-association of strand-forming transmembrane tight junction proteins. The regulatory tight junction protein occludin was differently tagged and cotransfected in eucaryotic cells. These occludins colocalized within the plasma membrane of the same cell, coprecipitated and exhibited fluorescence resonance energy transfer. Differently tagged strand-forming claudin-5 also colocalized in the plasma membrane of the same cell and showed fluorescence resonance energy transfer. This demonstrates self-association in intact cells both of occludin and claudin-5 in one plasma membrane. In search of dimerizing regions of occludin, dimerization of its cytosolic C-terminal coiledcoil domain was identified. In claudin-5, the second extracellular loop was detected as a dimer. Since the transmembrane junctional adhesion molecule also is known to dimerize, the assumption that homodimerization of transmembrane tight junction proteins may serve as a common structural feature in tight junction assembly is supported. Received 6 October 2005; received after revision 14 December 2005; accepted 27 December 2005 †These authors contributed equally to this work.     

Effect of ethanol on toxicity and metabolism of amphetamine in the mouse.

Ethanol, 3 g/kg i.p., did not significantly alter the acute toxicity of amphetamine in the mouse. However, the urinary metabolite pattern was changed, suggesting that ethanol suppressed metabolism of the stimulant during the initial 6 h period. After 24 h, the mouse metabolized the same fraction of a given dose of amphetamine, whether it was given as amphetamine alone or amphetamine mixed with 2,3 or 4 g/kg ethanol.     

FMRP与TDG蛋白的相互作用

脆性Ｘ智力低下蛋白ＦＭＲＰ表达的缺乏可以导致最常见的遗传性智力低下疾病—脆性Ｘ综合征。用酵母双杂交体系筛选与ＦＭＲＰ相互作用的蛋白质,以期通过相互作用的蛋白质研究与ＦＭＲＰ相关的生化途径。从小鼠胚胎ｃＤＮＡ文库中得到一个与ＦＭＲＰ特异相互作用蛋白的ｃＤＮＡ（Ｇｅｎｂａｎｋ号ａｆ１０２８５７）。该ｃＤＮＡ编码的蛋白与人的Ｇ／Ｔ错配ＤＮＡ胸腺嘧啶糖苷酶（ｈＴＤＧ）高度同源通过多种ＦＭＲＰ造反剪接异构体