中国栅蛛属2新种记述(蜘蛛目:栅蛛科)

本文记了分别采自云南高黎贡山的栅蛛科栅蛛属Hahnia 2新种:垭口栅蛛,新种S.yakouensis sp.nov.和肾形栅蛛,新种S.reniformis sp.nov..垭口栅蛛后眼列前曲,交媾腔大,扁圆形,交媾孔1个,位于交媾腔下缘,交媾管粗,呈"人"字形下行分成2支再向两侧扭曲.纳精囊有一肓管斜向上伸出,鉴于上述特征而与Hahnia mridulae Tikader,1970不同.肾形栅蛛交媾孔2个,位于生殖厣腹面中央,纳精囊1对,大,肾形,插入器始于生殖球左下方,鉴于上述特征而与Hahnia xinjiangensis Wang et Liang,1989不同. Abstract： The present paper deals with two new species of the genus Hahnia collected from the Gaoligong Mountains Region of Yunnan Province, China: Hahnia yakouensis sp. nov., Hahnia reniformis sp. nov..     

注重发挥博士后科研生力军作用

中国医科大学博士后科研流动站始建1995年。目前学校设有基础医学、临床医学和生物学3个博士后科研流动站。但由于每年国家财力有限,资助名额很少,在有限条件下建立、健全博士后制度,加强对博士后人员的培养,调动博士后人员的积极性是一项重要的研究课题。     

遗传物质的发现者之一——麦卡锡

1944年,3位科学家艾弗里、麦卡锡和麦克劳德在DNA遗传本质方面的发现是20世纪最重要的发现之一,这个发现打开了生物学革命的大门,从而改变了人类对自然界的看法,这项研究还为1953年沃森和克里克DNA双螺旋结构的发现奠定了坚实的基础,但不幸的是3位科学家都未曾荣获诺贝尔奖.通过介绍麦克林·麦卡锡的科学研究,从而对这项发现的基本状况有一个基本的了解.     

生命之树与进化模式:导言

One and half centuries ago, Charles Darwin (1859) presented overwhelming evidence and argued that all life on the earth shared common descent, and "from so simple a beginning endless forms most beautiful and most wonderful have been, and are being evolved". Ernst Haeckel (1886) and several of his contemporaries attempted to trace the pattern of descent among all extant and extinct forms in what Darwin referred to as "the great Tree of Life". Ever since then, systematists and evolutionary biologists have been exploring morphological, cytogenetic, chemical, developmental and molecular characters, and actively developing theories and methods to infer phylogenetic relationships among organisms from these characters. This endeavor has been especially stimulated by the rise of molecular biology and the emergence of computer science over the past 50 years. At the beginning of the 21st century, we are presented with an unprecedented opportunity to reconstruct the entire Tree of Life, and further, to study evolutionary processes and mechanisms in the context of a robust phylogenetic framework.     

我国微生态学的奠基人——魏曦

魏曦,字东升,1903年12月25日出生于湖南岳阳一个小职员家庭,父亲任职于邮政局.1914～1921年他在家乡湖滨中学读书,毕业后考入长沙湘雅医学院,学习两年后曾参加北伐军,任第四集团军警卫团三等军医.后退出军队,在长沙广雅中学任教.1928年入设立在上海的中央大学医学院(1932年独立为上海医学院)学习,1933年毕业,获博士学位.     

高黎贡山北段东西坡种子植物区系的比较研究

高黎贡山北段的东西坡由于在降雨量和热量分配等方面存在着显著的差异,致使东西坡在植物的种类、组成及区系特征等方面表现出明显的差异.东坡记载野生种子植物152科,580属,1475种及192变种(亚种),西坡记载野生种子植物162科,659属,1804种及186变种(亚种).东西坡种子植物科、属、种的对比分析表明:1)东西坡现代种子植物区系具有相同的历史渊源,但其区系联系减弱了,东西坡区系相似性程度,依科、属、种的顺序依次递减;2)西坡现代种子植物区系比东坡具有更为深刻的热带起源烙印.就科、属、种三个水平来说,东坡的热带成分低于西坡,温带成分高于西坡.许多典型的泛热带大科在西坡比东坡有着更为丰富的种类,其中有些泛热带科分子在东坡缺乏分布,而在西坡找到了合适的驻留之地;3)西坡现代种子植物区系与东喜马拉雅植物区系的联系比东坡紧密,而东坡与高黎贡山以东的区系联系比西坡密切,由于高黎贡山山脉的阻隔,近代植物物种的东西坡交流发生了障碍;4)西坡生态地理环境比东坡更有利于物种的生存、繁衍和分化,它既是古老成分的避难所,又是孕育新生成分的摇篮.     

用叶绿体ndhF和核核糖体ITS序列推断李属(蔷薇科)的系统发育

Sequences of the chloroplast ndhF gene and the nuclear ribosomal ITS regions are employed to reconstruct the phylogeny of Prunus (Rosaceae), and evaluate the classification schemes of this genus. The two data sets are congruent in that the genera Prunus s.l. and Maddenia form a monophyletic group, with Maddenia nested within Prunus. However, the ndhF data set is incongruent with the ITS data supporting two major groups within Prunus one consisting of subgenera Laurocerasus (including Pygeum) and Padus as well as the genus Maddenia and another of subgenera Amygdalus, Cerasus, and Prunus. The ITS data, on the other hand, support a clade composed of subgenera Amygdalus and Prunus and Prunus sect. Microcerasus in addition to a paraphyletic grade of subgenera Laurocerasus and Padus (and the genus Maddenia) taxa. In general, the subgeneric classifications of Prunus s.l. are not supported. The ITS and ndhF phylogenies differ mainly in interspecific relationships and the relative position of the Padus/Laurocerasus group. Both ITS and ndhF data sets suggest that the formerly recognized genus Pygeum is polyphyletic and that the distinction of the subgenera Padus and Laurocerasus is not supported. The biogeographic interactions of the temperate and tropical members in the Padus/Laurocera- sus/Maddenia alliance including Pygeum are shown to be highly dynamic and complex.     

途经甘肃的3种水鸟新纪录

2007年10月13日至11月5日进行敦煌市湿地鸟类调查时,分别在南湖湿地与候鸟自然保护区及党河水库使用Leica apo77高倍望远镜观察到3种水鸟,在以往的文献资料中未见其分布于甘肃的报道,应为甘肃鸟类新纪录。笔者用500mm镜头分别拍下3种水鸟的照片。1.赤颈(Podiceps grisegena)2007年10月13日13:30时,在南湖湿地与候鸟自然保护区的阳关水库(渥洼池)记录到2只赤颈。当时水面上同时有凤头(P.cristatus)、黑颈(P.nigricollis)以及大量鸭类、潜鸭类游禽活动,赤颈体形较凤头小,而又明显比黑颈大。其中一只赤颈的…     

鸡的瞬膜

瞬膜(nictitating membrane),又称第三眼睑,是一种保护眼球、防止灰尘的结构.鸟类的瞬膜位于眼眶的前眼角,为半透明的膜,其内缘具有一种羽毛上皮,借以刷洗角膜上的灰尘.在飞行时能遮覆眼球,以避免干燥气流和灰尘对眼球的伤害.由于瞬膜在鸟类睁眼的一瞬间迅速缩回前眼角,很难拍摄到.最近费了好大的周折,终于拍到了理想的鸡瞬膜照片,现予以发表供生物学界的同行共享(友情提示:如引用请注明原作者).     

Copy number polymorphism in plant genomes

Copy number variants (CNVs) are genomic rearrangements resulting from gains or losses of DNA segments. Typically, the term refers to rearrangements of sequences larger than 1 kb. This type of polymorphism has recently been shown to be a key contributor to intra-species genetic variation, along with single-nucleotide polymorphisms and short insertion-deletion polymorphisms. Over the last decade, a growing number of studies have highlighted the importance of copy number variation (CNV) as a factor affecting human phenotype and individual CNVs have been linked to risks for severe diseases. In plants, the exploration of the extent and role of CNV is still just beginning. Initial genomic analyses indicate that CNVs are prevalent in plants and have greatly affected plant genome evolution. Many CNV events have been observed in outcrossing and autogamous species. CNVs are usually found on all chromosomes, with CNV hotspots interspersed with regions of very low genetic variation. Although CNV is mainly associated with intergenic regions, many CNVs encompass protein-coding genes. The collected data suggest that CNV mainly affects the members of large families of functionally redundant genes. Thus, the effects of individual CNV events on phenotype are usually modest. Nevertheless, there are many cases in which CNVs for specific genes have been linked to important traits such as flowering time, plant height and resistance to biotic and abiotic stress. Recent reports suggest that CNVs may form rapidly in response to stress.     

What a difference copy number variation makes

DNA copy number variation (CNV) represents a considerable source of human genetic diversity. Recently,1 a global map of copy number variation in the human genome has been drawn up which reveals not only the ubiquity but also the complexity of this type of variation. Thus, two human genomes may differ by more than 20 Mb and it is likely that the full extent of CNV still remains to be discovered. Nearly 3000 genes are associated with CNV. This high degree of variability with regard to gene copy number between two individuals challenges definitions of normality. Many CNVs are located in regions of complex genomic structure and this currently limits the extent to which these variants can be genotyped by using tagging SNPs. However, some CNVs are already amenable to genome-wide association studies so that their influence on human phenotypic diversity and disease susceptibility may soon be determined.     

Copy number variations of obesity relevant loci associated with body mass index in young Chinese

Obesity is one of the most complex human diseases that are widely concerned and studied. More recently, copy number variations (CNVs) emerge as another important genetic marker to influence various human diseases. To elucidate the relationship between obesity and CNVs, this current study selected obesity-related candidate CNVs and analyzed their association with body mass index (BMI). Results showed that a CNV locus, 8q24.3, was significantly different (P = 0.0070) in CNV frequency between the obese and healthy controls in a young eastern Chinese cohort, while no statistical significance was observed in other seven candidate loci including well reported 10q11.22 and 16p11.2 loci. The association of 8q24.3 CNVs with BMI of the subjects only showed marginal significance, while the copy number (CN) of 5p15.33 had a significant correlation with the BMI of the subject. These results suggested that 8q24.3 CN gains was associated with obesity, and 5p15.33 might also contribute to obesity pathogenesis, highlighting the importance of these CNVs for obesity risks, as well as providing new evidence for CNVs in the pathology of common diseases.     

Gene copy number variations in adaptive evolution: The genomic distribution of gene copy number variations revealed by genetic mapping and their adaptive role in an undomesticated species,white spruce (Picea glauca)

Gene copy number variation (CNV) has been associated with phenotypic variability in animals and plants, but a genomewide understanding of their impacts on phenotypes is largely restricted to human and agricultural systems. As such, CNVs have rarely been considered in investigations of the genomic architecture of adaptation in wild species. Here, we report on the genetic mapping of gene CNVs in white spruce, which lacks a contiguous assembly of its large genome (~20 Gb), and their relationships with adaptive phenotypic variation. We detected 3,911 gene CNVs including de novo structural variations using comparative genome hybridization on arrays (aCGH) in a large progeny set. We inferred the heterozygosity at CNV loci within parents by comparing haploid and diploid tissues and genetically mapped 82 gene CNVs. Our analysis showed that CNVs were distributed over 10 linkage groups and identified four CNV hotspots that we predict to occur in other species of the Pinaceae. Significant relationships were found between 29 of the gene CNVs and adaptive traits based on regression analyses with timings of bud set and bud flush, and height growth, suggesting a role for CNVs in climate adaptation. The importance of CNVs in adaptive evolution of white spruce was also indicated by functional gene annotations and the clustering of 31% of the mapped adaptive gene CNVs in CNV hotspots. Taken together, these results illustrate the feasibility of studying CNVs in undomesticated species and represent a major step towards a better understanding of the roles of CNVs in adaptive evolution.     

Genome-Wide Detection of Copy Number Variations among Diverse Horse Breeds by Array CGH

Recent studies have found that copy number variations (CNVs) are widespread in human and animal genomes. CNVs are a significant source of genetic variation, and have been shown to be associated with phenotypic diversity. However, the effect of CNVs on genetic variation in horses is not well understood. In the present study, CNVs in 6 different breeds of mare horses, Mongolia horse, Abaga horse, Hequ horse and Kazakh horse (all plateau breeds) and Debao pony and Thoroughbred, were determined using aCGH. In total, seven hundred CNVs were identified ranging in size from 6.1 Kb to 0.57 Mb across all autosomes, with an average size of 43.08 Kb and a median size of 15.11 Kb. By merging overlapping CNVs, we found a total of three hundred and fifty-three CNV regions (CNVRs). The length of the CNVRs ranged from 6.1 Kb to 1.45 Mb with average and median sizes of 38.49 Kb and 13.1 Kb. Collectively, 13.59 Mb of copy number variation was identified among the horses investigated and accounted for approximately 0.61% of the horse genome sequence. Five hundred and eighteen annotated genes were affected by CNVs, which corresponded to about 2.26% of all horse genes. Through the gene ontology (GO), genetic pathway analysis and comparison of CNV genes among different breeds, we found evidence that CNVs involving 7 genes may be related to the adaptation to severe environment of these plateau horses. This study is the first report of copy number variations in Chinese horses, which indicates that CNVs are ubiquitous in the horse genome and influence many biological processes of the horse. These results will be helpful not only in mapping the horse whole-genome CNVs, but also to further research for the adaption to the high altitude severe environment for plateau horses.     

Gene-based copy number variation study reveals a microdeletion at 12q24 that influences height in the Korean population

Height is a classic polygenic trait with high heritability (h² = 0.8). Recent genome-wide association studies have revealed many independent loci associated with human height. In addition, although many studies have reported an association between copy number variation (CNV) and complex diseases, few have explored the relationship between CNV and height. Recent studies reported that single nucleotide polymorphisms (SNPs) are highly correlated with common CNVs, suggesting that it is warranted to survey CNVs to identify additional genetic factors affecting heritable traits such as height.This study tested the hypothesis that there would be CNV regions (CNVRs) associated with height nearby genes from the GWASs known to affect height. We identified regions containing > 1% copy number deletion frequency from 3667 population-based cohort samples using the Illumina HumanOmni1-Quad BeadChip. Among the identified CNVRs, we selected 15 candidate regions that were located within 1 Mb of 283 previously reported genes. To assess the effect of these CNVRs on height, statistical analyses were conducted with samples from a case group of 370 taller (upper 10%) individuals and a control group of 1828 individuals (lower 50%).We found that a newly identified 17.7 kb deletion at chromosomal position 12q24.33, approximately 171.6 kb downstream of GPR133, significantly correlated with height; this finding was validated using quantitative PCR. These results suggest that CNVs are potentially important in determining height and may contribute to height variation in human populations.     

拷贝数变异: 基因组多样性的新形式

基因拷贝数变异是指DNA片段大小范围从kb到Mb的亚微观突变, 是一可能具有致病性、良性或未知临床意义的基因组改变。Fosmid末端配对序列比较策略、比较基因组杂交芯片是当前较多使用的检测手段。染色体非等位的同源重排、非同源突变和非b DNA结构是造成基因组拷贝数变异的重要原因。拷贝数变异可导致不同程度的基因表达差异, 对正常表型的构成及疾病的发生发展具有一定作用。文章在总结基因拷贝数变异的认识过程和研究策略的基础上, 分析了拷贝数变异的形成和作用机制, 介绍了第一代人类基因组拷贝数变异图谱, 阐述了拷贝数变异研究的临床意义, 提示在探索疾病相关的遗传变异时不能错失拷贝数变异这一基因组多样性的新形式。     

Clinical significance of germline copy number variation in susceptibility of human diseases

Germline copy number variation (CNV) is considered to be an important form of human genetic polymorphisms. Previous studies have identified amounts of CNVs in human genome by advanced technologies, such as comparative genomic hybridization, single nucleotide genotyping, and high-throughput sequencing. CNV is speculated to be derived from multiple mechanisms, such as nonallelic homologous recombination (NAHR) and nonhomologous end-joining (NHEJ). CNVs cover a much larger genome scale than single nucleotide polymorphisms (SNPs), and may alter gene expression levels by means of gene dosage, gene fusion, gene disruption, and long-range regulation effects, thus affecting individual phenotypes and playing crucial roles in human pathogenesis. The number of studies linking CNVs with common complex diseases has increased dramatically in recent years. Here, we provide a comprehensive review of the current understanding of germline CNVs, and summarize the association of germline CNVs with the susceptibility to a wide variety of human diseases that were identified in recent years. We also propose potential issues that should be addressed in future studies.     

A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction

Increasing evidence indicates that copy number variants (CNVs) have great relevance to common human diseases. In α-thalassemia, clinical phenotypes are related to genotypes, specifically copy number changes in the human α-globin gene cluster. Assays are available for high-throughput screening of unknown CNVs genome-wide and also for targeted CNV genotyping at loci associated with genetic disorders. Here we describe a universal quantitative approach based on nested real-time quantitative polymerase chain reaction for accurate determination of copy numbers at multiple particular gene loci. We used the α-globin gene as a model system, obtaining the reproducibility and sensitivity to analyze different gene copies and testing 95 DNA samples with 16 different known genotypes. Our results showed that this approach has high sensitivity and low standard deviations for correctly genotyping DNA samples containing different copy numbers of the α1 and α2 globin genes. Our method is rapid, simple, and reliable, and it could be used to simultaneously screen for α-thalassemia deletions or triplications. Moreover, it has potential as a versatile technology for the rapid genotyping of known CNVs in a targeted region.     

Global copy number analyses by next generation sequencing provide insight into pig genome variation

Background

Copy number variations (CNVs) confer significant effects on genetic innovation and phenotypic variation. Previous CNV studies in swine seldom focused on in-depth characterization of global CNVs.

Results

Using whole-genome assembly comparison (WGAC) and whole-genome shotgun sequence detection (WSSD) approaches by next generation sequencing (NGS), we probed formation signatures of both segmental duplications (SDs) and individualized CNVs in an integrated fashion, building the finest resolution CNV and SD maps of pigs so far. We obtained copy number estimates of all protein-coding genes with copy number variation carried by individuals, and further confirmed two genes with high copy numbers in Meishan pigs through an enlarged population. We determined genome-wide CNV hotspots, which were significantly enriched in SD regions, suggesting evolution of CNV hotspots may be affected by ancestral SDs. Through systematically enrichment analyses based on simulations and bioinformatics analyses, we revealed CNV-related genes undergo a different selective constraint from those CNV-unrelated regions, and CNVs may be associated with or affect pig health and production performance under recent selection.

Conclusions

Our studies lay out one way for characterization of CNVs in the pig genome, provide insight into the pig genome variation and prompt CNV mechanisms studies when using pigs as biomedical models for human diseases.

Electronic supplementary material

The online version of this article (doi:10.1186/1471-2164-15-593) contains supplementary material, which is available to authorized users.