Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene

MicroRNAs (miRNAs) are an abundant class of RNAs that are approximately 21-25 nucleotides (nt) long, interact with mRNAs and trigger either translation repression or RNA cleavage (RNA interference, RNAi) depending on the degree of complementarity with their targets. Here we show that the imprinted mouse distal chromosome 12 locus encodes two miRNA genes expressed from the maternally inherited chromosome and antisense to a retrotransposon-like gene (Rtl1) expressed only from the paternal allele.     

Web Services在大型旋转机械在线诊断系统中的应用

Web Services是实现信息发布的一种软件与通讯技术。提出了Web Services技术与设备故障诊断技术结合的全新思路,将设备的工艺流程、工艺参数、信号特征、故障推理诊断结论等通过软件与通讯的方式实现数据的动态交换和人机界面(HMI)的交互,供用户操作,从而形成网络化的系统信息发布。介绍了Web Services的基本原理和特点,结合国家“十五”计划“八六三”项目课题“网络化、智能化大型旋转机械在线诊断系统”,对在线诊断系统中信息发布的常见内容进行了归纳分类,描述如何采用DELPHI6 Web Services组件,实现网络化、智能化大型旋转机械在线诊断系统的信息发布、查询等功能。     

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec. We previously mapped the gene responsible for ARSACS to chromosome 13q11 and identified two ancestral haplotypes. Here we report the cloning of this gene, SACS, which encodes the protein sacsin. The ORF of SACS is 11,487 bp and is encoded by a single gigantic exon spanning 12,794 bp. This exon is the largest to be identified in any vertebrate organism. The ORF is conserved in human and mouse. The putative protein contains three large segments with sequence similarity to each other and to the predicted protein of an Arabidopsis thaliana ORF. The presence of heat-shock domains suggests a function for sacsin in chaperone-mediated protein folding. SACS is expressed in a variety of tissues, including the central nervous system. We identified two SACSmutations in ARSACS families that lead to protein truncation, consistent with haplotype analysis.     

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. Most patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome (known as haemophagocytic syndrome, HS), leading to death in the absence of bone-marrow transplantation. In contrast, early in life some GS patients show a severe neurological impairment without apparent immune abnormalities. We previously mapped the GS locus to chromosome 15q21 and found a mutation in a gene (MYO5A) encoding a molecular motor in two patients. Further linkage analysis suggested a second gene associated with GS was in the same chromosomal region. Homozygosity mapping in additional families narrowed the candidate region to a 3.1-cM interval between D15S1003 and D15S962. We detected mutations in RAB27A, which lies within this interval, in 16 patients with GS. Unlike MYO5A, the GTP-binding protein RAB27A appears to be involved in the control of the immune system, as all patients with RAB27A mutations, but none with the MYO5A mutation, developed HS. In addition, RAB27A-deficient T cells exhibited reduced cytotoxicity and cytolytic granule exocytosis, whereas MYO5A-defective T cells did not. RAB27A appears to be a key effector of cytotoxic granule exocytosis, a pathway essential for immune homeostasis.     

Tat-specific cytotoxic T lymphocytes select for SIV escape variants during resolution of primary viraemia

Human immunodeficiency virus (HIV) and simian immunodeficiency virus (SIV) infections are characterized by early peaks of viraemia that decline as strong cellular immune responses develop. Although it has been shown that virus-specific CD8-positive cytotoxic T lymphocytes (CTLs) exert selective pressure during HIV and SIV infection, the data have been controversial. Here we show that Tat-specific CD8-positive T-lymphocyte responses select for new viral escape variants during the acute phase of infection. We sequenced the entire virus immediately after the acute phase, and found that amino-acid replacements accumulated primarily in Tat CTL epitopes. This implies that Tat-specific CTLs may be significantly involved in controlling wild-type virus replication, and suggests that responses against viral proteins that are expressed early during the viral life cycle might be attractive targets for HIV vaccine development.     

Dichotomy of single-nucleotide polymorphism haplotypes in olfactory receptor genes and pseudogenes

Substantial efforts are focused on identifying single-nucleotide polymorphisms (SNPs) throughout the human genome, particularly in coding regions (cSNPs), for both linkage disequilibrium and association studies. Less attention, however, has been directed to the clarification of evolutionary processes that are responsible for the variability in nucleotide diversity among different regions of the genome. We report here the population sequence diversity of genomic segments within a 450-kb cluster of olfactory receptor (OR) genes on human chromosome 17. We found a dichotomy in the pattern of nucleotide diversity between OR pseudogenes and introns on the one hand and the closely interspersed intact genes on the other. We suggest that weak positive selection is responsible for the observed patterns of genetic variation. This is inferred from a lower ratio of polymorphism to divergence in genes compared with pseudogenes or introns, high non-synonymous substitution rates in OR genes, and a small but significant overall reduction in variability in the entire OR gene cluster compared with other genomic regions. The dichotomy among functionally different segments within a short genomic distance requires high recombination rates within this OR cluster. Our work demonstrates the impact of weak positive selection on human nucleotide diversity, and has implications for the evolution of the olfactory repertoire.     

工业园区规划理念与功能布局研究

通过对临汾段店工业园区控制性详细规划设计理念和功能布局的论述,提出以中、高技术产业为主,集科、工、贸于一体,多功能、综合性的现代化、花园式的城市功能区是工业园区发展的方向。     

浅谈大气污染连续自动监测系统在苏州市环境中的应用

通过对大气污染连续自动监测系统的简介,并简单阐述了系统在某中等城市中的应用。作者在这里通过近几年几个大气污染因子在某中等城市在线仪监测数据的比对,进一步说明大气污染连续自动监测系统在某城市环境中的应用与推广,以及系统应用对保护我们生存的环境的重要性。     

民族音乐教育的文化内涵

本文通过对民族音乐教育和文化的多重关系的研究、探索、归纳与整合,对民族音乐教育和文化的内在联系、音乐文化的传承、音乐发展的文化繁荣及实施策略等问题上提出了自己的观点及实践的方向和方法。     

Heart rate variability during high-intensity exercise

The aim of this paper is to describe and analyse the behaviour of heart rate variability (HRV) during constant-load, high-intensity exercise using a time frequency analysis (Wavelet Transform). Eleven elite cyclists took part in the study (age: 18.6±3.0 years; VO_2max: 4.88±0.61 litres·min^?1). Initially, all subjects performed an incremental cycloergometer test to determine load power in a constant load-test (379.55±36.02 W; 89.0%). HRV declined dramatically from the start of testing (p <0.05). The behaviour of power spectral density within the LF band mirrored that of total energy, recording a significant decrease from the outset LF peaks fell rapidly thereafter, remaining stable until the end of the test. HF-VHF fell sharply in the first 20 to 30 seconds. The relative weighting (%) of HF-VHF was inverted with the onset of fatigue, [1.6% at the start, 7.1 (p <0.05) at the end of the first phase, and 43.1% (p <0.05) at the end of the test]. HF-VHF_peak displayed three phases: a moderate initial increase, followed by a slight fall, thereafter increasing to the end of the test. The LF/HF-VHF ratio increased at the start, later falling progressively until the end of the first phase and remaining around minimal values until the end of the test.