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1.
A forkhead-domain gene is mutated in a severe speech and language disorder   总被引:27,自引:0,他引:27  
Lai CS  Fisher SE  Hurst JA  Vargha-Khadem F  Monaco AP 《Nature》2001,413(6855):519-523
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2.
参阅国内外相关文献,综述语言相关基因FOXP2的发现及对语言研究的启示意义。FOXP2基因是目前发现的第一个与语言有关的基因,该基因是人类进化过程中的选择性标记之一,与语言功能密切有关。语言相关基因的发现,为语言学家进行语言研究打开了新的领域和思路。  相似文献   

3.
 FOXP3+CD4+CD25+调节性T 细胞(FOXP3+Tregs)负责正常机体免疫稳态的维持。人类许多重大免疫性疾病均与调节性T 细胞的功能异常相关。叉头状家族转录蛋白FOXP3 是调节性T 细胞中特异性表达的关键转录因子,对调节性T 细胞的发育与功能有着重要作用。近年来的研究表明,FOXP3 蛋白转录调控复合体的装配及其翻译后修饰调节对调节性T 细胞的功能至关重要,相关生理过程受到各种炎症微环境的动态调节。深入研究FOXP3+Tregs 活性调节的分子机制将为攻克人类重大免疫及相关性疾病提供创新性线索。  相似文献   

4.
Adenosine deaminase (ADA) deficiency, an autosomal recessive inborn error of metabolism, leads to severe combined immune deficiency in man. This enzyme, although constitutively expressed in most tissues, is expressed at high level in immature T cells, and study of the pathophysiology of the disorder indicates that increased deoxyadenosine or altered methylation capacity have toxic effects on T-cell maturation. Although bone marrow transplantation can correct the immune deficiency, this therapy is associated with graft-versus-host disease and incomplete immune restoration, and so our laboratory and others have sought to develop a method of gene replacement as a possible treatment for the disease. Moreover, characterization of the complementary DNA of the human ADA gene and some of its mutants makes it possible to design gene transfer strategies. We have now subcloned a human adenosine deaminase cDNA into the retrovirus shuttle vector pZIP-SV(B), and in this way have isolated a cell line, 4.2T, which produces high titres of replication-defective retrovirus which have been used to transfer the gene for human ADA to mouse bone marrow cells. Transfer and expression of the neomycin-resistance gene (neo) and the ADA gene in murine bone marrow colony-forming units (CFU) was demonstrated by in vitro colony formation in the presence of the antibiotic G418 or 9-xylofuranosyladenine plus deoxycoformycin, respectively. Isoenzyme analysis also showed human ADA expression in the cultured mouse bone marrow.  相似文献   

5.
Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.  相似文献   

6.
 语言交互能力是人类认知发展、终身学习的基础,这为人类开启了智慧之门。人工智能时代,语言交互也将是人类和机器之间表达思想、交流知识、相互沟通的重要工具,这就需要让机器听懂复杂场景下的人类语言并且适应人类几千年进化形成的远场语音交互习惯,从而让机器真正认知人类世界,为机器产生类人智能提供一种参考。  相似文献   

7.
C Flexner  A Hügin  B Moss 《Nature》1987,330(6145):259-262
Recombinant vaccinia viruses have been proposed as live vaccines against a variety of infectious diseases, including AIDS (acquired immune deficiency syndrome). Objections have been concerned primarily with side effects of the vaccinia virus vector itself. Recently it has been shown that inactivation of the vaccinia virus thymidine kinase gene or deletion of certain other non-essential genes is associated with a marked reduction in pathogenicity. Nevertheless, the ability of vaccinia virus to produce a progressive infection in immunodeficient individuals remains a most serious problem. Indeed, an incident of this type in a vaccinated man seropositive for human immunodeficiency virus was recently reported. We have used immunodeficient athymic nude mice to establish a model of disseminated vaccinia virus infection, and to demonstrate a novel approach to virus attenuation which involves insertion of a gene encoding human interleukin-2 into the genome of vaccinia virus vectors.  相似文献   

8.
The mammalian Y chromosome encodes a testis-determining factor (termed TDF in the human), a master regulator of sex differentiation. Embryos with a Y chromosome develop testes and become males whereas embryos lacking a Y chromosome develop ovaries and become females. Expression of H-Y, a minor histocompatibility antigen, may also be controlled by a gene on the Y chromosome, and it has been proposed that this antigen is the testis-determining factor. We have tested the postulated identity of H-Y and TDF in the human. H-Y typing with T cells was carried out on a series of sex-reversed humans (XX males and XY females), each shown by DNA hybridization to carry part but not all of the Y chromosome. This deletion analysis maps the gene for H-Y to the long arm or centromeric region of the human Y chromosome, far from the TDF locus, which maps to the distal short arm.  相似文献   

9.
一种在世界范围内突然爆发的致命流行病——急性呼吸窘迫综合症(SARS)击倒了数干人,一种全新的冠状病毒被认为是其病原.5个SARS相关冠状病毒的全基因组序列已经完成.我们进行了SARS相关冠状病毒和其它冠状病毒的基因组进化分析和序列比较,结果显示:1.SARS相关冠状病毒不直接来自于任何已知的冠状病毒;2.E蛋白的基因可能是在近期从其它病毒横向转移到SARS病毒中来的;3.Sl和S2基因发生了较大范围的缺失或插入突变.这些基因横向转移和突变改变了SARS相关病毒的表面结构和抗原性,极有可能是导致其获得侵染人类细胞的主要原因.  相似文献   

10.
外语教学的目的在于培养学生在实际语言环境中一定的语言交际能力。课堂教学是人才培养的关键,其核心是提高教学效率和学生运用语言的能力。目前大学公共英语课堂教学普遍还存在重教轻学、重知识轻能力的现象,学生以应试为学习目的,这已不符合人才培养的要求。  相似文献   

11.
Identification of a second human retinoic acid receptor   总被引:119,自引:0,他引:119  
We have previously described a human complementary DNA that encodes a novel protein which is homologous to members of the steroid/thyroid nuclear receptor multigene family. This novel protein (hap for hepatoma) exhibits strong homology with the human retinoic acid receptor (RAR) which has been recently characterized. To test the possibility that the hap protein might also be a retinoid receptor, a chimaeric receptor was created by replacing the putative DNA binding domain of hap with that of the human oestrogen receptor (ER). The resulting hap-ER chimaera was then tested for its ability to trans-activate an oestrogen-responsive reporter gene (vit-tk-CAT) in the presence of possible receptor ligands. Here we show that retinoic acid (RA) at physiological concentrations is effective in inducing the expression of this reporter gene by the hap-ER chimaeric receptor. This demonstrates the existence of two human retinoic acid receptors designated RAR-alpha and RAR-beta.  相似文献   

12.
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.   总被引:28,自引:0,他引:28  
C Masutani  R Kusumoto  A Yamada  N Dohmae  M Yokoi  M Yuasa  M Araki  S Iwai  K Takio  F Hanaoka 《Nature》1999,399(6737):700-704
Xeroderma pigmentosum variant (XP-V) is an inherited disorder which is associated with increased incidence of sunlight-induced skin cancers. Unlike other xeroderma pigmentosum cells (belonging to groups XP-A to XP-G), XP-V cells carry out normal nucleotide-excision repair processes but are defective in their replication of ultraviolet-damaged DNA. It has been suspected for some time that the XPV gene encodes a protein that is involved in trans-lesion DNA synthesis, but the gene product has never been isolated. Using an improved cell-free assay for trans-lesion DNA synthesis, we have recently isolated a DNA polymerase from HeLa cells that continues replication on damaged DNA by bypassing ultraviolet-induced thymine dimers in XP-V cell extracts. Here we show that this polymerase is a human homologue of the yeast Rad30 protein, recently identified as DNA polymerase eta. This polymerase and yeast Rad30 are members of a family of damage-bypass replication proteins which comprises the Escherichia coli proteins UmuC and DinB and the yeast Rev1 protein. We found that all XP-V cells examined carry mutations in their DNA polymerase eta gene. Recombinant human DNA polymerase eta corrects the inability of XP-V cell extracts to carry out DNA replication by bypassing thymine dimers on damaged DNA. Together, these results indicate that DNA polymerase eta could be the XPV gene product.  相似文献   

13.
Homozygotes for Huntington's disease   总被引:5,自引:0,他引:5  
Careful comparison of symptomatic individuals with normal controls has revealed the primary biochemical abnormality in many human genetic diseases, particularly recessive disorders. This strategy has proved less successful for most human disorders which are not recessive, and where a single copy of the aberrant gene has clinically significant effects even though the normal gene product is present. An alternative approach that eliminates the impediment of a normal protein in affected individuals is to study homozygotes for the mutant allele. For virtually all dominant human disorders in which homozygotes have been described, symptoms have been significantly more severe in the homozygote than in the heterozygote. Thus, these disorders do not conform to the classical definition of dominance which states that homozygotes and heterozygotes for a defect are phenotypically indistinguishable. Instead, they display incomplete dominance, indicating that the normal allele may play a role in ameliorating the disease process. The D4S10 locus, defined by the probe G8 and linked to the gene for Huntington's disease (HD), has permitted us to identify individuals with a high probability of being homozygous for this autosomal dominant neurodegenerative disorder. These homozygotes do not differ in clinical expression or course from typical HD heterozygotes. HD appears to be the first human disease of genetically documented homozygosity that displays complete phenotypic dominance.  相似文献   

14.
15.
听力测试是语言测试的重要组成部分,也是了解个体语言行为的一种重要手段。数十年来,分离式听力测试模式被广泛应用于各类英语考试中。然而,近年来有很多学者对分离式测试的有效性提出了质疑,他们认为现行的英语听力理解考试不能真正体现受测者的实际语言运用能力。同时,交际法听力测试随着交际法理论的发展而越来越受到人们的关注。这两种测试各有利弊,不能只是简单舍弃,而应扬长避短。  相似文献   

16.
以建构主义教学思想为指导,结合桂西北壮母语地区大学英语教学的实际情况,探讨适合于桂西北壮母语地区大学英语教学模式,以培养学生的语言应用能力和创新能力。  相似文献   

17.
A human recombinant haemoglobin designed for use as a blood substitute.   总被引:19,自引:0,他引:19  
The need to develop a blood substitute is now urgent because of the increasing concern over blood-transmitted viral and bacterial pathogens. Cell-free haemoglobin solutions and human haemoglobin synthesized in Escherichia coli and Saccharomyces cerevisiae have been investigated as potential oxygen-carrying substitutes for red blood cells. But these haemoglobins cannot be used as a blood substitute because (1) the oxygen affinity in the absence of 2,3-bisphosphoglycerate is too high to allow unloading of enough oxygen in the tissues, and (2) they dissociate into alpha beta dimers that are cleared rapidly by renal filtration, which can result in long-term kidney damage. We have produced a human haemoglobin using an expression vector containing one gene encoding a mutant beta-globin with decreased oxygen affinity and one duplicated, tandemly fused alpha-globin gene. Fusion of the two alpha-globin subunits increases the half-life of this haemoglobin molecule in vivo by preventing its dissociation into alpha beta dimers and therefore also eliminates renal toxicity.  相似文献   

18.
p53 inhibition by the LANA protein of KSHV protects against cell death   总被引:55,自引:0,他引:55  
Friborg J  Kong W  Hottiger MO  Nabel GJ 《Nature》1999,402(6764):889-894
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19.
英语专业的“综合英语”教学主要采用终结性评价。长期实践表明,此评价方式存在很多弊端,笔者希望通过采用具体的形成性评价方式,发展学生的自我评价与学生间相互评价的能力,以促进学生的自我反思与自我管理能力。从而提高学生自主学习意识与自主学习能力,并为他们养成终身学习的意识与习惯打下基础。  相似文献   

20.
The origin of human language, and in particular the question of whether or not Neanderthal man was capable of language/speech, is of major interest to anthropologists but remains an area of great controversy. Despite palaeoneurological evidence to the contrary, many researchers hold to the view that Neanderthals were incapable of language/speech, basing their arguments largely on studies of laryngeal/basicranial morphology. Studies, however, have been hampered by the absence of unambiguous fossil evidence. We now report the discovery of a well-preserved human hyoid bone from Middle Palaeolithic layers of Kebara Cave, Mount Carmel, Israel, dating from about 60,000 years BP. The bone is almost identical in size and shape to the hyoid of present-day populations, suggesting that there has been little or no change in the visceral skeleton (including the hyoid, middle ear ossicles, and inferentially the larynx) during the past 60,000 years of human evolution. We conclude that the morphological basis for human speech capability appears to have been fully developed during the Middle Palaeolithic.  相似文献   

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