• 【从俄罗斯图拉地区的监狱犯人中分离出的结核分枝杆菌中,耐多药的LAM和北京家族菌株占优势。】 复制标题 收藏 收藏
    DOI:10.1099/jmm.0.46575-0 复制DOI
    作者列表:Ignatova A,Dubiley S,Stepanshina V,Shemyakin I
    BACKGROUND & AIMS: :The genotypic characteristics and drug susceptibility profiles of clinical isolates of Mycobacterium tuberculosis recovered from prison hospital patients in the Tula region (central Russia) during 2001 and 2002 are reported. The emergence of multi-drug-resistant tuberculosis (TB) poses a major health risk to the population, with economic implications for TB control. Prisons serve as a continuous source of TB transmission. The results showed that members of the LAM and Beijing families are major contributors to the epidemiological picture of TB in the population studied. The two families of strains accounted for most of the drug-resistant TB in the population. The genotypic characteristics of the M. tuberculosis predominant LAM strain that was responsible for 31 % of TB cases in this setting are presented.
    背景与目标: :报告了2001和2002年从图拉地区(俄罗斯中部)的监狱医院患者中回收的结核分枝杆菌临床分离株的基因型特征和药物敏感性分布。耐多药结核病(TB)的出现给人们带来了重大的健康风险,对结核病控制产生了经济影响。监狱是结核病传播的持续来源。结果表明,LAM和北京家庭的成员是所研究人群中结核病流行病学特征的主要贡献者。菌株的两个家族占人口中大多数耐药结核病的比例。呈现了结核分枝杆菌占主导地位的LAM菌株的基因型特征,该菌株在这种情况下占31%的结核病病例。
  • 【亚氨基二琥珀酸差向异构酶的三维结构定义了MmgE / PrpD蛋白家族的折叠。】 复制标题 收藏 收藏
    DOI:10.1016/j.jmb.2006.07.051 复制DOI
    作者列表:Lohkamp B,Bäuerle B,Rieger PG,Schneider G
    BACKGROUND & AIMS: :Iminodisuccinate (IDS) epimerase catalyzes the epimerisation of R,R-, S,S- and R,S- iminodisuccinate, one step in the biodegradation of the chelating agent iminodisuccinate by Agrobacterium tumefaciens BY6. The enzyme is a member of the MmgE/PrpD protein family, a diverse and little characterized class of proteins of prokaryotic and eukaryotic origin. IDS epimerase does not show significant overall amino acid sequence similarity to any other protein of known three-dimensional structure. The crystal structure of this novel epimerase has been determined by multi-wavelength diffraction to 1.5 A resolution using selenomethionine-substituted enzyme. In the crystal, the enzyme forms a homo-dimer, and the subunit consists of two domains. The larger domain, not consecutive in sequence and comprising residues Met1-Lys266 and Leu400-Pro446, forms a novel all alpha-helical fold with a central six-helical bundle. The second, smaller domain folds into an alpha+beta domain, related in topology to chorismate mutase by a circular permutation. IDS epimerase is thus not related in three-dimensional structure to other known epimerases. The fold of the IDS epimerase is representative for the whole MmgE/PrpD family. The putative active site is located at the interface between the two domains of the subunit, and is characterized by a positively charged surface, consistent with the binding of a highly negatively charged substrate such as iminodisuccinate. Docking experiments suggest a two-base mechanism for the epimerisation reaction.
    背景与目标: :亚氨基二琥珀酸酯(IDS)差向异构酶催化R,R-,S,S-和R,S-亚氨基二琥珀酸酯的差向异构化,这是根癌农杆菌BY6对螯合剂亚氨基二琥珀酸酯的生物降解的一个步骤。该酶是MmgE / PrpD蛋白质家族的成员,MmgE / PrpD蛋白质家族是原核和真核来源的多种多样且鲜为人知的蛋白质。 IDS差向异构酶与已知三维结构的任何其他蛋白质均未显示出明显的总体氨基酸序列相似性。该新型差向异构酶的晶体结构已通过硒代蛋氨酸取代的酶通过多波长衍射确定为1.5 A的分辨率。在晶体中,酶形成同型二聚体,该亚基由两个结构域组成。较大的结构域,顺序不连续,包含残基Met1-Lys266和Leu400-Pro446,形成带有中心六螺旋束的新型全α螺旋折叠。第二个较小的域折叠成一个alpha beta域,该域在拓扑结构上与通过循环排列分支变异酶有关。因此,IDS差向异构酶在三维结构上与其他已知的差向异构酶无关。 IDS差向异构酶的折叠代表整个MmgE / PrpD家族。推定的活性位点位于亚基的两个结构域之间的界面处,其特征是带正电的表面,与带负电的底物(如亚氨基二琥珀酸酯)的结合相一致。对接实验提出了差向异构反应的两碱基机制。
  • 【特发性血小板减少性紫癜:克罗地亚里耶卡儿童医院的15年自然史研究。】 复制标题 收藏 收藏
    DOI:10.1002/pbc.20995 复制DOI
    作者列表:Roganovic J,Letica-Crepulja M
    BACKGROUND & AIMS: :We review a 15-year experience with childhood idiopathic thrombocytopenic purpura (ITP) at a tertiary-care pediatric hospital in Croatia. Data confirm that ITP is typically a self-limited bleeding disorder that usually presents with mild symptoms in children between 1 and 10 years of age and affects both sexes equally. At presentation, more than half of the children had platelet counts of <10x10(9)/L. The absence of preceding viral infection and insidious onset of symptoms were significantly associated with development of chronic ITP. In our experience, observation without specific therapy seems to be the optimal approach to a child with ITP.
    背景与目标: :我们回顾了克罗地亚一家三级儿科医院15年儿童特发性血小板减少性紫癜(ITP)的经验。数据证实,ITP通常是一种自限性出血性疾病,通常在1至10岁的儿童中表现出轻度症状,并平等地影响两性。在介绍时,超过一半的儿童血小板计数<10x10(9)/ L。先前病毒感染的缺乏和症状的隐匿发作与慢性ITP的发生显着相关。根据我们的经验,不进行特殊治疗的观察似乎是ITP儿童的最佳治疗方法。
  • 【肺鱼是化石吗?阿片/孤儿蛋白基因家族进化的观察。】 复制标题 收藏 收藏
    DOI:10.1016/j.ygcen.2006.07.010 复制DOI
    作者列表:Lee J,Alrubaian J,Dores RM
    BACKGROUND & AIMS: :This minireview considers the possibility that there is a correlation between the slow rate of morphological change and speciation events that has been occurred within the lungfish lineage since the Permian period, and the apparent slow rate of divergence in the amino acid sequences of lungfish opioid precursor sequences. The status of lungfish as "living fossils" is considered.
    背景与目标: :本篇小型综述认为,二叠纪以来在肺鱼谱系内发生的形态变化和物种形成的缓慢速率与形态上的缓慢变化与肺鱼阿片样物质前体的氨基酸序列的明显缓慢速率之间存在相关性的可能性序列。考虑到肺鱼作为“活化石”的地位。
  • 【局限性前列腺癌的自然病程。以个人观点审阅已发表的论文。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Hugosson J,Aus G
    BACKGROUND & AIMS: :The course of untreated localized prostate cancer after 10 years of follow-up is at large unknown. As curative treatment is usually only offered patients with a life expectancy exceeding 10 Years, the expected course of the disease if left untreated is of the utmost interest. This paper aims to describe the outcome for patients who survive for more than 10 years when treated without curative intent. The results indicate that cancer specific mortality in patients with localized prostate cancer increases steadily over time and is approximately 50% after 15 years. This is a much higher figure than in reported series on radical prostatectomy. Even if many deaths occur at an old age, prostate cancer death is shown to be associated with a significant morbidity, need for palliative treatment, hospital care and cost. Preventing prostate cancer death is therefore not only a matter of saving year of life but also to prevent suffering caused by the disease. Modern diagnostic tools, such as prostate specific antigen, seem to detect clinically significant cancers in the vast majority of patients. Over diagnosis seems to be uncommon if diagnostic procedures are restricted to patients with a long life expectancy. Localized prostate cancer is a slow-growing but progressive neoplastic disease. When diagnosed in a man with a longer life expectancy it should be handled as such.
    背景与目标: :十年随访后未经治疗的局限性前列腺癌的病程目前还不得而知。由于通常仅为预期寿命超过10年的患者提供治愈性治疗,因此,如果不及时治疗,预期的病程将是最重要的。本文旨在描述未经治疗而存活超过10年的患者的预后。结果表明,局部前列腺癌患者的癌症特异性死亡率随时间稳定增加,并且在15年后约为50%。这是一个比已报道的前列腺癌根治术系列高得多的数字。即使许多死亡发生在老年,前列腺癌的死亡也被证明与明显的发病率,姑息治疗的需要,医院护理和费用有关。因此,预防前列腺癌的死亡不仅是挽救生命的一年,而且是预防由该疾病引起的痛苦的问题。现代诊断工具,例如前列腺特异性抗原,似乎可以在绝大多数患者中检测出具有临床意义的癌症。如果诊断程序仅限于预期寿命较长的患者,则过度诊断似乎不常见。局限性前列腺癌是一种生长缓慢但正在进行的肿瘤性疾病。当诊断为预期寿命较长的男性时,应照此处理。
  • 【流域可持续水质管理框架和战略规划系统。】 复制标题 收藏 收藏
    DOI:10.1007/s00267-005-0304-1 复制DOI
    作者列表:Chen CH,Liu WL,Leu HG
    BACKGROUND & AIMS: :In Taiwan, the authorities have spent years working on remedying polluted rivers. Generally, the remediation planning works are divided into two phases. During the first phase, the allowed pollution discharge quantity and abatement quantity of each drainage zone, including the assimilative capacity, are generated based on the total river basin. In the second phase, the abatement action plans for each pollution source in each drainage zone are respectively devised by the related organizations based on the strategies generated during the first phase. However, the effectiveness of linking the two phases is usually poor. Highly integrated performances are not always achieved because the separate two-phase method does not take system and management thinking into consideration in the planning stage. This study pioneers the use of the Managing for Results (MFR) method in planning strategies and action plans for river water quality management. A sustainable management framework is proposed based on the concept and method of MFR, Management Thinking, and System Analysis. The framework, consisting of planning, implementation, and controlling stages, systematically considers the relationships and interactions among four factors: environment, society, economy, and institution, based on the principles of sustainable development. Based on the framework, the Modified Bounded Implicit Enumeration algorithm, which is used as a solving method, is combined with Visual Basic software and MS Excel to develop a computer system for strategy planning. The Shetzu River, located in northern Taiwan, is applied as a case study. According to the theoretical, practical, and regulatory considerations, the result-oriented objectives are defined to first improve the pollution length of the Shetzu River in specific remediation periods to finally meet regulated water quality standards. The objectives are then addressed as some of the constraints for the strategy planning model. The model objective is to pursue the maximum assimilative capacity (environmental phase) subjected to the constraints of water quality standards (institutional phase), social equity (social phase), and proper available technology (economic phase). The pollution quantity abatement and allocation, which are named the top strategies, of each drainage zone for different scenarios can be obtained based on each water quality standard. The middle as well as lower strategies and action plans, which consist of pollution quantity abatement and allocation of each class (domestic, industrial, livestock, and non-point pollution sources) and their individual pollution sources in each drainage zone, are then generated based on the top strategies. The performance indicators and measure plans are proposed based on the action plans to promote the comprehensive effectiveness of river water quality management. The authorities have begun to develop a budget based on the strategies and action plans developed in this study. The analytical results indicate that the objectives, strategies, and action plans developed based on the sustainable management framework and strategy planning system can effectively help the related authorities to fulfill the tasks of water quality management for a river basin.
    背景与目标: :在台湾,当局花费了多年的时间来修复受污染的河流。通常,修复计划工作分为两个阶段。在第一阶段,基于流域总面积,产生每个流域的允许污染排放量和减排量,包括同化能力。在第二阶段,相关组织根据第一阶段产生的策略分别制定每个流域每个污染源的减排行动计划。但是,连接两个阶段的有效性通常很差。由于分离的两阶段方法在计划阶段没有考虑系统和管理思想,因此无法始终实现高度集成的性能。这项研究开创了在河流水质管理的规划策略和行动计划中使用“结果管理”(MFR)方法的方法。基于MFR,管理思想和系统分析的概念和方法,提出了一种可持续的管理框架。该框架由规划,实施和控制阶段组成,根据可持续发展的原则,系统地考虑了四个因素之间的关系和相互作用:环境,社会,经济和制度。在该框架的基础上,将改进的有界隐式枚举算法(作为一种求解方法)与Visual Basic软件和MS Excel相结合,以开发用于战略规划的计算机系统。以台湾北部的神社河为例。根据理论,实践和监管方面的考虑,确定了以结果为导向的目标,即首先在特定的修复时期内改善Shetzu河的污染长度,以最终达到规定的水质标准。然后,将目标作为战略计划模型的一些约束条件加以解决。该模型的目标是在水质标准(机构阶段),社会公平(社会阶段)和适当的可用技术(经济阶段)的约束下,追求最大同化能力(环境阶段)。可以根据每个水质标准获得不同情景下每个流域的污染量减免和分配,这是最重要的策略。然后根据每个流域产生的中低等策略和行动计划,包括减少污染量和分配每个类别(家庭,工业,牲畜和非点源污染源)及其各自的污染源。在最重要的策略上。根据行动计划提出绩效指标和措施计划,以提高河流水质管理的综合有效性。当局已开始根据本研究制定的策略和行动计划制定预算。分析结果表明,基于可持续管理框架和战略计划系统制定的目标,战略和行动计划可以有效地帮助有关部门完成流域水质管理的任务。
  • 【小鼠第6号染色体上自然杀手基因复合物的2-Mb YAC重叠群和物理图谱。】 复制标题 收藏 收藏
    DOI:10.1006/geno.1997.4721 复制DOI
    作者列表:Brown MG,Fulmek S,Matsumoto K,Cho R,Lyons PA,Levy ER,Scalzo AA,Yokoyama WM
    BACKGROUND & AIMS: :We have constructed a physical map of a > 2-Mb region on mouse chromosome 6 that contains the natural killer gene complex (NKC). The map comprises a contig of 14 overlapping yeast artificial chromosomes onto which we positioned 25 NKC markers. NKC genetically linked genes encode > 17 proteins that directly control innate NK cell-mediated tumor lysis and disease resistance. Herein we show that Nkrp1 genes are clustered in a region flanked by A2m and Cd69 genes and that most Ly49 genes are clustered in a distal region -1 Mb distant. Importantly, syntenic intervals of mouse chromosome 6 and human chromosome 12p that include the NKC are conserved. NKC species conservation suggests that the human NKC may contain orthologues for the mouse viral disease resistance genes, Cmv1 and Rmp1. The high-resolution NKC map will facilitate investigation of NKC gene regulation and identification of phenotypically defined gene products that confer NK cell defense against viral pathogens.
    背景与目标: :我们在小鼠染色体6上构建了一个大于2-Mb区域的物理图,其中包含自然杀伤基因复合体(NKC)。该图包括14个重叠的酵母人工染色体的重叠群,我们在其上定位了25个NKC标记。 NKC遗传连锁基因编码> 17种蛋白质,这些蛋白质直接控制先天NK细胞介导的肿瘤溶解和疾病抵抗力。在本文中,我们显示Nkrp1基因聚集在A2m和Cd69基因侧翼的区域中,而大多数Ly49基因聚集在距离-1 Mb远的区域中。重要的是,保留了包含NKC的小鼠6号染色体和人类12p号染色体的同音间隔。 NKC物种保守性表明,人NKC可能含有小鼠病毒疾病抗性基因Cmv1和Rmp1的直向同源物。高分辨率的NKC图谱将有助于NKC基因调控的研究和表型定义的基因产物的鉴定,这些产物赋予NK细胞防御病毒病原体的能力。
  • 【CD5 B细胞在个体发育早期对D-近端VH家族表达的贡献。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Jeong HD,Teale JM
    BACKGROUND & AIMS: :In this study, the contribution of the CD5+ B cell to the preferential expression of VH 7183 and Q52 observed early in development was determined. CD5+ and CD5- B cells from BALB/c mice were isolated by fluorescence-activated cell sorter and the expression of particular VH gene families was determined directly by in situ hybridization. The results indicate that CD5+ B cells obtained from both adult and neonatal animals express Q52 at increased levels compared with CD5- B cells. Preferential expression of VH 7183 was observed only in the neonatal CD5- B cell subset. Thus, the increased expression of VH 7183 early in development is caused by the CD5- subset whereas increased Q52 expression is caused by the CD5+ subset. These results indicate that the fetal/neonatal conventional B cell is distinct from conventional adult B cells in terms of Ig gene repertoire expression.
    背景与目标: :在这项研究中,确定了CD5 B细胞对发育早期观察到的VH 7183和Q52优先表达的贡献。通过荧光激活细胞分选仪分离来自BALB / c小鼠的CD5和CD5-B细胞,并通过原位杂交直接确定特定VH基因家族的表达。结果表明,与CD5-B细胞相比,从成年和新生动物身上获得的CD5 B细胞表达的Q52含量都增加了。仅在新生儿CD5-B细胞亚群中观察到VH 7183的优先表达。因此,VH 7183在发育早期的表达增加是由CD5-亚群引起的,而Q52表达的增加是由CD5亚群引起的。这些结果表明,就Ig基因全集表达而言,胎儿/新生儿常规B细胞与常规成人B细胞是不同的。
  • 【经医师营养专家培训后的家庭医师营养实践。】 复制标题 收藏 收藏
    DOI:10.1093/ajcn/65.6.2007S 复制DOI
    作者列表:Lazarus K
    BACKGROUND & AIMS: Although nutrition is an important part of medical care, nutrition education is not provided in most training programs for physicians in the United States, resulting in limited nutrition knowledge among physicians and limited nutritional care of patients. A nutrition education program was provided by a physician nutrition specialist in a family practice residency program. For 6 mo, the nutrition specialist provided the family physicians with recommendations for nutritional care for their patients. The effects of the education program on residents' and faculty physicians' nutrition knowledge and nutritional patient care, patients' perceptions of the importance of nutrition, and physicians' dietary patterns were determined by pre- and post-intervention nutrition exams for physicians and patients, patient questionnaires about attitudes toward nutrition, chart reviews, and physicians' diet records. The nutrition education program resulted in an increase in physicians' nutrition knowledge scores (P < 0.01) and an increase in the frequency with which physicians discussed nutrition and recommended diets for their patients (P < 0.05). This suggests that nutrition education by a physician nutrition specialist within a family practice residency program can be effective in increasing nutritional care provided to patients.

    背景与目标: 尽管营养是医疗保健的重要组成部分,但在美国大多数医师的培训计划中并未提供营养教育,这导致医师之间的营养知识有限,患者的营养保健也有限。营养保健教育计划是由医师营养专家在家庭执业驻留计划中提供的。营养专家在6个月内为家庭医生提供了有关为其患者提供营养护理​​的建议。通过干预前和干预后对医师和患者的营养检查来确定教育计划对住院医师和教职医师的营养知识和患者营养的影响,患者对营养重要性的看法以及医师的饮食方式的影响,有关营养态度的患者问卷调查表,图表评论以及医生的饮食记录。营养教育计划导致医师的营养知识得分增加(P <0.01),医师讨论营养和为患者推荐饮食的频率增加(P <0.05)。这表明在家庭执业住院医师计划中,由医生营养专家进行的营养教育可以有效地增加提供给患者的营养保健服务。

  • 【XLerk的鉴定,XLerk是非洲爪蟾中胚层诱导和神经发生过程中受调节的Eph家族配体。】 复制标题 收藏 收藏
    DOI:10.1038/sj.onc.1201082 复制DOI
    作者列表:Jones TL,Karavanova I,Chong L,Zhou RP,Daar IO
    BACKGROUND & AIMS: We have isolated and characterized the first Xenopus transmembrane Eph ligand, XLerk (Xenopus Ligand for Eph Receptor Tyrosine Kinases). While this ligand has 72% identity with the closest mammalian family member, Lerk-2, it is the cytoplasmic domain of this molecule that is the most conserved domain with 95% identity. XLerk exists as a maternally expressed mRNA, however, expression of transcripts and protein increase during gastrulation and again in the late swimming tadpole stage. In the adult, XLerk is expressed at low levels in most adult tissues with increased levels observed in the kidney, oocytes, ovary and testis. While low levels of XLerk expression are observed in the adult brain, in situ hybridization analysis demonstrates prominent expression in the developing olfactory system, retina, hindbrain, cranial ganglia, and somites. Furthermore, we have shown that XLerk transcripts are significantly elevated during mesoderm induction caused by activin and FGF, but not during noggin-induced neuralization. These results suggest a role for XLerk in the developing mesenchymal and nervous tissue.

    背景与目标: 我们已经分离并鉴定了第一个非洲爪蟾跨膜Eph配体XLerk(用于Eph受体酪氨酸激酶的非洲爪蟾配体)。尽管该配体与最接近的哺乳动物家族成员Lerk-2具有72%的同一性,但该分子的胞质结构域是具有95%的同一性的最保守的结构域。 XLerk作为母体表达的mRNA存在,但是转录的表达和蛋白质在胃排泄过程中以及游泳increase后期再次增加。在成年人中,XLerk在大多数成年人组织中低水平表达,在肾脏,卵母细胞,卵巢和睾丸中观察到水平升高。尽管在成年大脑中观察到了低水平的XLerk表达,但原位杂交分析显示出在发育中的嗅觉系统,视网膜,后脑,颅神经节和体节中突出表达。此外,我们已经表明,在由激活素和FGF引起的中胚层诱导过程中,XLerk转录物显着升高,但在头蛋白诱导的神经化过程中却没有。这些结果表明XLerk在发育中的间充质和神经组织中的作用。

  • 【参与胚胎干细胞生物学的Rhox簇的鼠特异性扩增处于自然选择之下。】 复制标题 收藏 收藏
    DOI:10.1186/1471-2164-7-212 复制DOI
    作者列表:Jackson M,Watt AJ,Gautier P,Gilchrist D,Driehaus J,Graham GJ,Keebler J,Prugnolle F,Awadalla P,Forrester LM
    BACKGROUND & AIMS: BACKGROUND:The rodent specific reproductive homeobox (Rhox) gene cluster on the X chromosome has been reported to contain twelve homeobox-containing genes, Rhox1-12. RESULTS:We have identified a 40 kb genomic region within the Rhox cluster that is duplicated eight times in tandem resulting in the presence of eight paralogues of Rhox2 and Rhox3 and seven paralogues of Rhox4. Transcripts have been identified for the majority of these paralogues and all but three are predicted to produce full-length proteins with functional potential. We predict that there are a total of thirty-two Rhox genes at this genomic location, making it the most gene-rich homoeobox cluster identified in any species. From the 95% sequence similarity between the eight duplicated genomic regions and the synonymous substitution rate of the Rhox2, 3 and 4 paralogues we predict that the duplications occurred after divergence of mouse and rat and represent the youngest homoeobox cluster identified to date. Molecular evolutionary analysis reveals that this cluster is an actively evolving region with Rhox2 and 4 paralogues under diversifying selection and Rhox3 evolving neutrally. The biological importance of this duplication is emphasised by the identification of an important role for Rhox2 and Rhox4 in regulating the initial stages of embryonic stem (ES) cell differentiation. CONCLUSION:The gene rich Rhox cluster provides the mouse with significant biological novelty that we predict could provide a substrate for speciation. Moreover, this unique cluster may explain species differences in ES cell derivation and maintenance between mouse, rat and human.
    背景与目标: 背景:据报道,X染色体上的啮齿动物特异性生殖同源盒(Rhox)基因簇含有十二个包含同源盒的基因,Rhox1-12。
    结果:我们在Rhox簇中鉴定出一个40 kb的基因组区域,该区域串联重复八次,导致存在八个Rhox2和Rhox3旁系同源物和七个Rhox4旁系同源物。已为大多数这些旁系同源物确定了转录本,除三个外,均预测会产生具有功能潜力的全长蛋白质。我们预测在该基因组位置总共有32个Rhox基因,使其成为任何物种中鉴定到的最丰富的基因同源盒簇。从八个重复的基因组区域之间95%的序列相似性以及Rhox2、3和4个旁系同源物的同义取代率,我们预测重复发生在小鼠和大鼠分化后,并且代表了迄今确定的最年轻的同源盒簇。分子进化分析表明,该簇是一个活跃进化的区域,在选择多样化的情况下,Rhox2和4个旁系同源物,而Rhox3则是中性进化的。通过鉴定Rhox2和Rhox4在调节胚胎干(ES)细胞分化的初始阶段中的重要作用,强调了这种重复的生物学重要性。
    结论:富含基因的Rhox簇为小鼠提供了重要的生物学新奇,我们预测可以为物种形成提供底物。而且,这种独特的簇可以解释小鼠,大鼠和人之间ES细胞衍生和维持中的物种差异。
  • 【来自“进化峡谷”的酿酒酵母自然种群中的分子遗传生物多样性:微卫星多态性,倍性和有争议的性状态。】 复制标题 收藏 收藏
    DOI:10.1534/genetics.106.062745 复制DOI
    作者列表:Ezov TK,Boger-Nadjar E,Frenkel Z,Katsperovski I,Kemeny S,Nevo E,Korol A,Kashi Y
    BACKGROUND & AIMS: :The yeast S. cerevisiae is a central model organism in eukaryotic cell studies and a major component in many food and biotechnological industrial processes. However, the wide knowledge regarding genetics and molecular biology of S. cerevisiae is based on an extremely narrow range of strains. Studies of natural populations of S. cerevisiae, not associated with human activities or industrial fermentation environments, are very few. We isolated a panel of S. cerevisiae strains from a natural microsite, "Evolution Canyon" at Mount Carmel, Israel, and studied their genomic biodiversity. Analysis of 19 microsatellite loci revealed high allelic diversity and variation in ploidy level across the panel, from diploids to tetraploids, confirmed by flow cytometry. No significant differences were found in the level of microsatellite variation between strains derived from the major localities or microniches, whereas strains of different ploidy showed low similarity in allele content. Maximum genetic diversity was observed among diploids and minimum among triploids. Phylogenetic analysis revealed clonal, rather than sexual, structure of the triploid and tetraploid subpopulations. Viability tests in tetrad analysis also suggest that clonal reproduction may predominate in the polyploid subpopulations.
    背景与目标: :酿酒酵母是真核细胞研究中的中心模型生物,在许多食品和生物技术工业过程中都是主要成分。但是,关于酿酒酵母的遗传学和分子生物学的广泛知识是基于非常狭窄的菌株。与人类活动或工业发酵环境无关的酿酒酵母自然种群研究很少。我们从以色列卡梅尔山的天然微型站点“进化峡谷”中分离出一组酿酒酵母菌株,并研究了它们的基因组生物多样性。对19个微卫星基因座的分析显示,从二倍体到四倍体,整个等位基因组中的高等位基因多样性和倍性水平存在差异,这已通过流式细胞仪进行了确认。在来自主要地区或微生态位的菌株之间,微卫星变异水平没有发现显着差异,而具有不同倍性的菌株在等位基因含量上的相似性很低。在二倍体中观察到最大的遗传多样性,在三倍体中观察到最小的遗传多样性。系统发育分析显示三倍体和四倍体亚群的克隆结构,而不是有性结构。四元分析中的生存力测试还表明,在多倍体亚群中克隆繁殖可能占主导地位。
  • 【I型糖尿病易感性候选基因的分析:2q31-35号染色体上基因的病例对照和家庭关联研究。】 复制标题 收藏 收藏
    DOI:10.2337/diab.46.6.1069 复制DOI
    作者列表:Owerbach D,Naya FJ,Tsai MJ,Allander SV,Powell DR,Gabbay KH
    BACKGROUND & AIMS: Recent genome searches suggest a putative linkage of many loci to susceptibility to type I diabetes. The chromosome 2q31-35 region is reported to be linked to susceptibility to type I diabetes and is thought to contain several diabetes susceptibility loci. These candidate genes include the HOXD gene cluster, BETA2, CTLA4, CD28, IGFBP2, and IGFBP5. Association studies in populations and families are required to confirm and/or identify the actual susceptibility loci. We hereby report several previously unknown DNA polymorphisms for HOXD8, BETA2, and IGFBP5, which we have used along with previously known polymorphisms of HOXD8 and CTLA4 to test whether these candidate loci are the susceptibility genes on chromosome 2q31-35. Using a case-control design with a subsequent family-association approach to confirm associations, we find no evidence that these candidate genes are associated with susceptibility to type I diabetes.

    背景与目标: 最近的基因组搜索表明,许多基因位点与I型糖尿病易感性的推测联系。据报道,染色体2q31-35与I型糖尿病易感性相关,并被认为含有几个糖尿病易感性基因座。这些候选基因包括HOXD基因簇,BETA2,CTLA4,CD28,IGFBP2和IGFBP5。需要在人群和家庭中进行协会研究,以确认和/或识别实际的易感基因座。我们在此报告HOXD8,BETA2和IGFBP5的几种先前未知的DNA多态性,并将其与HOXD8和CTLA4的先前已知多态性一起用于测试这些候选基因座是否为2q31-35染色体上的易感性基因。使用病例对照设计和随后的家庭关联方法来确认关联,我们没有发现这些候选基因与I型糖尿病易感性相关的证据。

  • 14 The gene family that cheats Mendel. 复制标题 收藏 收藏

    【欺骗孟德尔的基因家族。】 复制标题 收藏 收藏
    DOI:10.7554/eLife.28567 复制DOI
    作者列表:Shropshire JD,Rokas A
    BACKGROUND & AIMS: :Some alleles of the wtf gene family can increase their chances of spreading by using poisons to kill other alleles, and antidotes to save themselves.
    背景与目标: :wtf基因家族的某些等位基因可以通过使用毒药杀死其他等位基因和解毒剂来拯救自己,从而增加传播的机会。
  • 【有和没有肾结石病家族史的健康学童尿结石的危险因素。】 复制标题 收藏 收藏
    DOI:10.1007/s00467-012-2368-5 复制DOI
    作者列表:Sáez-Torres C,Grases F,Rodrigo D,García-Raja AM,Gómez C,Frontera G
    BACKGROUND & AIMS: BACKGROUND:The prevalence of lithiasis is increasing at all ages. This study aimed to assess the crystallization risk in urine from healthy school children and to determine urinary parameters that are most associated with it. METHODS:Urine samples were obtained from 184 children aged 5-12 years: a spot sample collected in the afternoon, and a 12-h overnight sample. Information was obtained regarding family histories of lithiasis. Urine volume, pH, and biochemical parameters of stone risk were measured. Crystallization risk was defined by the presence of specific urine conditions that had previously been associated with stone formation in vitro. RESULTS:Crystallization risk was observed in 15 % of spot urine samples and 54 % of 12-h samples. Metabolic abnormalities and a low urinary volume were more frequently detected in children with crystallization risk. Calcium excretion and calcium/citrate ratio were higher in children with a family history of lithiasis. CONCLUSIONS:We observed a high prevalence of crystallization risk in urine, especially in children with a family history of the disease. Low urinary volume was the factor most associated with increased risk. Adequate fluid intake at an early age may be a simple and effective measure to reduce the incidence of nephrolithiasis.
    背景与目标: 背景:石斑症的患病率在各个年龄段都在增加。这项研究旨在评估健康学童尿液中结晶的风险,并确定与其最相关的尿液参数。
    方法:从184名5至12岁的儿童获得尿液样本:下午收集现场样本,并收集12小时的过夜样本。获得了有关石尿症家族史的信息。测量尿液体积,pH值和结石风险的生化参数。结晶风险是由以前与体外结石形成有关的特定尿液条件定义的。
    结果:在15%的现货尿液样本和54%的12小时样本中观察到结晶风险。具有结晶风险的儿童更经常检测到代谢异常和尿量低。有结石病家族史的儿童的钙排泄和钙/柠檬酸比更高。
    结论:我们观察到尿液中结晶风险的患病率很高,尤其是在有该病家族史的儿童中。低尿量是与增加风险最相关的因素。早期摄入足够的液体可能是减少肾结石症发生率的一种简单有效的措施。

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