HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

Embryonal stem (ES) cell lines, established in culture from peri-implantation mouse blastocysts, can colonize both the somatic and germ-cell lineages of chimaeric mice following injection into host blastocysts. Recently, ES cells with multiple integrations of retroviral sequences have been used to introduce these sequences into the germ-line of chimaeric mice, demonstrating an alternative to the microinjection of fertilized eggs for the production of transgenic mice. However, the properties of ES cells raise a unique possibility: that of using the techniques of somatic cell genetics to select cells with genetic modifications such as recessive mutations, and of introducing these mutations into the mouse germ line. Here we report the realization of this possibility by the selection in vitro of variant ES cells deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT; EC 2.4.2.8), their use to produce germline chimaeras resulting in female offspring heterozygous for HPRT-deficiency, and the generation of HPRT-deficient preimplantation embryos from these females. In human males, HPRT deficiency causes Lesch-Nyhan syndrome, which is characterized by mental retardation and self-mutilation.     

Myosin gene mutation correlates with anatomical changes in the human lineage

Powerful masticatory muscles are found in most primates, including chimpanzees and gorillas, and were part of a prominent adaptation of Australopithecus and Paranthropus, extinct genera of the family Hominidae. In contrast, masticatory muscles are considerably smaller in both modern and fossil members of Homo. The evolving hominid masticatory apparatus--traceable to a Late Miocene, chimpanzee-like morphology--shifted towards a pattern of gracilization nearly simultaneously with accelerated encephalization in early Homo. Here, we show that the gene encoding the predominant myosin heavy chain (MYH) expressed in these muscles was inactivated by a frameshifting mutation after the lineages leading to humans and chimpanzees diverged. Loss of this protein isoform is associated with marked size reductions in individual muscle fibres and entire masticatory muscles. Using the coding sequence for the myosin rod domains as a molecular clock, we estimate that this mutation appeared approximately 2.4 million years ago, predating the appearance of modern human body size and emigration of Homo from Africa. This represents the first proteomic distinction between humans and chimpanzees that can be correlated with a traceable anatomic imprint in the fossil record.     

降低美国人汉语学习的认知负担

对外汉语教学因教学对象的国别化和区域化不同有认知上的不同.针对美国人学习汉语的情况,从降低学生学习汉语负担和同化理论对比分析的角度设计,配合美国ACTFL的5Cs标准,国别化教学理论策略,从汉语词汇、语音、语法、语篇、歧义等方面产生的负担来讨论和研究分析汉语学习的差异性和文化特色,从而降低学生汉语学习过程中的认知负担.     

Genome partitioning of genetic variation for complex traits using common SNPs

We estimate and partition genetic variation for height, body mass index (BMI), von Willebrand factor and QT interval (QTi) using 586,898 SNPs genotyped on 11,586 unrelated individuals. We estimate that ～45%, ～17%, ～25% and ～21% of the variance in height, BMI, von Willebrand factor and QTi, respectively, can be explained by all autosomal SNPs and a further ～0.5-1% can be explained by X chromosome SNPs. We show that the variance explained by each chromosome is proportional to its length, and that SNPs in or near genes explain more variation than SNPs between genes. We propose a new approach to estimate variation due to cryptic relatedness and population stratification. Our results provide further evidence that a substantial proportion of heritability is captured by common SNPs, that height, BMI and QTi are highly polygenic traits, and that the additive variation explained by a part of the genome is approximately proportional to the total length of DNA contained within genes therein.     

An extreme distortion of the Van Allen belt arising from the 'Hallowe'en' solar storm in 2003

The Earth's radiation belts--also known as the Van Allen belts--contain high-energy electrons trapped on magnetic field lines. The centre of the outer belt is usually 20,000-25,000 km from Earth. The region between the belts is normally devoid of particles, and is accordingly favoured as a location for spacecraft operation because of the benign environment. Here we report that the outer Van Allen belt was compressed dramatically by a solar storm known as the 'Hallowe'en storm' of 2003. From 1 to 10 November, the outer belt had its centre only approximately 10,000 km from Earth's equatorial surface, and the plasmasphere was similarly displaced inwards. The region between the belts became the location of high particle radiation intensity. This remarkable deformation of the entire magnetosphere implies surprisingly powerful acceleration and loss processes deep within the magnetosphere.