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1.
Positive selection is a general phenomenon in the evolution of abalone sperm lysin 总被引:36,自引:21,他引:15
Lysin is a 16kDa acrosomal protein used by abalone sperm to create a hole
in the egg vitelline envelope (VE). The interaction of lysin with the VE is
species-selective and is one step in the multistep fertilization process
that restricts heterospecific (cross-species) fertilization. For this
reason, the evolution of lysin could play a role in establishing prezygotic
reproductive isolation between species. Previously, we sequenced sperm
lysin cDNAs from seven California abalone species and showed that positive
Darwinian selection promotes their divergence. In this paper an additional
13 lysin sequences are presented representing species from Japan, Taiwan,
Australia, New Zealand, South Africa, and Europe. The total of 20 sequences
represents the most extensive analysis of a fertilization protein to date.
The phylogenetic analysis divides the sequences into two major clades, one
composed of species from the northern Pacific (California and Japan) and
the other composed of species from other parts of the world. Analysis of
nucleotide substitution demonstrates that positive selection is a general
process in the evolution of this fertilization protein. Analysis of
nucleotide and codon usage bias shows that neither parameter can account
for the robust data supporting positive selection. The selection pressure
responsible for the positive selection on lysin remains unknown.
相似文献
2.
Hsin-Chou Yang Chih-Min Liu Yu-Li Liu Chia-Wei Chen Chien Ching Chang Cathy S. J. Fann Jen-Jie Chiou Ueng-Cheng Yang Chun-Houh Chen Stephen V. Faraone Ming T. Tsuang Hai-Gwo Hwu 《PloS one》2013,8(3)
Background
Schizophrenia is a highly heritable disease with a polygenic mode of inheritance. Many studies have contributed to our understanding of the genetic underpinnings of schizophrenia, but little is known about how interactions among genes affect the risk of schizophrenia. This study aimed to assess the associations and interactions among genes that confer vulnerability to schizophrenia and to examine the moderating effect of neuropsychological impairment.Methods
We analyzed 99 SNPs from 10 candidate genes in 1,512 subject samples. The permutation-based single-locus, multi-locus association tests, and a gene-based multifactorial dimension reduction procedure were used to examine genetic associations and interactions to schizophrenia.Results
We found that no single SNP was significantly associated with schizophrenia. However, a risk haplotype, namely A-T-C of the SNP triplet rsDAO7-rsDAO8-rsDAO13 of the DAO gene, was strongly associated with schizophrenia. Interaction analyses identified multiple between-gene and within-gene interactions. Between-gene interactions including DAO*DISC1 , DAO*NRG1 and DAO*RASD2 and a within-gene interaction for CACNG2 were found among schizophrenia subjects with severe sustained attention deficits, suggesting a modifying effect of impaired neuropsychological functioning. Other interactions such as the within-gene interaction of DAO and the between-gene interaction of DAO and PTK2B were consistently identified regardless of stratification by neuropsychological dysfunction. Importantly, except for the within-gene interaction of CACNG2, all of the identified risk haplotypes and interactions involved SNPs from DAO.Conclusions
These results suggest that DAO, which is involved in the N-methyl-d-aspartate receptor regulation, signaling and glutamate metabolism, is the master gene of the genetic associations and interactions underlying schizophrenia. Besides, the interaction between DAO and RASD2 has provided an insight in integrating the glutamate and dopamine hypotheses of schizophrenia. 相似文献3.
Schizophrenia is perhaps the most debilitating mental disease and determining the underlying cause has become a challenging area of psychiatric research. It is relatively well established that genes play a role in the aetiology of schizophrenia. In this article, a review of important findings related to schizophrenia as a genetic trait will be provided, including a discussion of family, twin and adoption studies. Molecular genetic studies of specific candidate genes are then reviewed. Some controversies within the literature are examined and possible directions for future research are discussed. 相似文献
4.
Kate Jolly Rod S Tayor Gregory YH Lip Sheila M Greenfield Michael K Davies Russell C Davis Jonathan W Mant Sally J Singh Jackie T Ingram Jane Stubley Andrew J Stevens 《BMC cardiovascular disorders》2007,7(1):1-9
Background
We aimed to assess whether we could identify a graded association between increasing number of components of the metabolic syndrome and cardiac structural and functional abnormalities independently of predicted risk of coronary heart disease by the Framingham risk score.Methods
We conducted a cross-sectional study on a random sample of the urban population of Porto aged 45 years or over. Six hundred and eighty-four participants were included. Data were collected by a structured clinical interview with a physician, ECG and a transthoracic M-mode and 2D echocardiogram. The metabolic syndrome was defined according to ATPIII-NCEP. The association between the number of features of the metabolic syndrome and the cardiac structural and functional abnormalities was assessed by 3 multivariate regression models: adjusting for age and gender, adjusting for the 10-year predicted risk of coronary heart disease by Framingham risk score and adjusting for age, gender and systolic blood pressure.Results
There was a positive association between the number of features of metabolic syndrome and parameters of cardiac structure and function, with a consistent and statistically significant trend for all cardiac variables considered when adjusting for age and gender. Parameters of left ventricular geometry patterns, left atrial diameter and diastolic dysfunction maintained this trend when taking into account the 10-year predicted risk of coronary heart disease by the Framingham score as an independent variable, while left ventricular systolic dysfunction did not. The prevalence of left ventricular diastolic dysfunction, and the mean left ventricular mass, left ventricular diameter and left atrial diameter increased significantly with the number of features of the metabolic syndrome when additionally adjusting for systolic blood pressure as a continuous variable.Conclusion
Increasing severity of metabolic syndrome was associated with increasingly compromised structure and function of the heart. This association was independent of Framingham risk score for indirect indices of diastolic dysfunction but not systolic dysfunction, and was not explained by blood pressure level. 相似文献5.
Miriam YH Ueda Paulo G Alvarenga Juliana M Real Eloisa de Sá Moreira Aripuan? Watanabe Ana Maria Passos-Castilho Matheus Vescovi Yana Novis Vanderson Rocha Adriana Seber Jose SR Oliveira Celso A Rodrigues Celso FH Granato 《Memórias do Instituto Oswaldo Cruz》2015,110(4):461-467
Human herpesvirus 6 (HHV-6) may cause severe complications after haematopoietic stem
cell transplantation (HSCT). Monitoring this virus and providing precise, rapid and
early diagnosis of related clinical diseases, constitute essential measures to
improve outcomes. A prospective survey on the incidence and clinical features of
HHV-6 infections after HSCT has not yet been conducted in Brazilian patients and the
impact of this infection on HSCT outcome remains unclear. A rapid test based on
real-time quantitative polymerase chain reaction (qPCR) has been optimised to screen
and quantify clinical samples for HHV-6. The detection step was based on reaction
with TaqMan® hydrolysis probes. A set of previously described primers and
probes have been tested to evaluate efficiency, sensitivity and reproducibility. The
target efficiency range was 91.4% with linearity ranging from 10-106
copies/reaction and a limit of detection of five copies/reaction or 250 copies/mL of
plasma. The qPCR assay developed in the present study was simple, rapid and
sensitive, allowing the detection of a wide range of HHV-6 loads. In conclusion, this
test may be useful as a practical tool to help elucidate the clinical relevance of
HHV-6 infection and reactivation in different scenarios and to determine the need for
surveillance. 相似文献
6.
Compartment‐specific aggregases direct distinct nuclear and cytoplasmic aggregate deposition
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Annett Neuner Mohamed YH Mohamed D Lys Guilbride Karsten Richter Michael Lisby Elmar Schiebel Axel Mogk Bernd Bukau 《The EMBO journal》2015,34(6):778-797
Disruption of the functional protein balance in living cells activates protective quality control systems to repair damaged proteins or sequester potentially cytotoxic misfolded proteins into aggregates. The established model based on Saccharomyces cerevisiae indicates that aggregating proteins in the cytosol of eukaryotic cells partition between cytosolic juxtanuclear (JUNQ) and peripheral deposits. Substrate ubiquitination acts as the sorting principle determining JUNQ deposition and subsequent degradation. Here, we show that JUNQ unexpectedly resides inside the nucleus, defining a new intranuclear quality control compartment, INQ, for the deposition of both nuclear and cytosolic misfolded proteins, irrespective of ubiquitination. Deposition of misfolded cytosolic proteins at INQ involves chaperone‐assisted nuclear import via nuclear pores. The compartment‐specific aggregases, Btn2 (nuclear) and Hsp42 (cytosolic), direct protein deposition to nuclear INQ and cytosolic (CytoQ) sites, respectively. Intriguingly, Btn2 is transiently induced by both protein folding stress and DNA replication stress, with DNA surveillance proteins accumulating at INQ. Our data therefore reveal a bipartite, inter‐compartmental protein quality control system linked to DNA surveillance via INQ and Btn2. 相似文献
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8.
Smoking and depression are significant public health problems with multiple etiological dimensions and outcomes. Although each condition is important by itself, they are important because they often potentiate each other. Consequently, it is also essential to understand the nature their relationship. This representative review focuses on the genetic etiology of the relationship in the context of reviewing first the epidemiology of depression and smoking, and then by exploring behavioral and molecular genetic studies, and other psychiatric and medical comorbidities. At this point, epidemiological evidence for a relationship between depression and smoking/nicotine dependence is compelling. Although behavioral genetic results differ somewhat by gender and in accordance with specific definitions of depression and smoking variables, recent studies show converging evidence for common genetic factors underlying the relationship, often in addition to non-shared environmental factors. The search for underlying genes and genetic mechanisms is at an early stage, but shows promising candidate genes and genetic approaches for future studies. 相似文献
9.
YJ Kuo FY Tsuang JS Sun CH Lin CH Chen JY Li YC Huang WY Chen CB Yeh JF Shyu 《PloS one》2012,7(7):e40272
Introduction
Treatment for osteoporosis commonly includes the use of bisphosphonates. Serious side effects of these drugs are caused by the inhibition of bone resorption as a result of osteoclast apoptosis. Treatment using calcitonin along with bisphosphonates overcomes these side-effects in some patients. Calcitonin is known to inhibit bone resorption without reducing the number of osteoclasts and is thought to prolong osteoclast survival through the inhibition of apoptosis. Further understanding of how calcitonin inhibits apoptosis could prove useful to the development of alternative treatment regimens for osteoporosis. This study aimed to analyze the mechanism by which calcitonin influences osteoclast apoptosis induced by a bisphosphate analog, sintered dicalcium pyrophosphate (SDCP), and to determine the effects of co-treatment with calcitonin and SDCP on apoptotic signaling in osteoclasts.Methods
Isolated osteoclasts were treated with CT, SDCP or both for 48 h. Osteoclast apoptosis assays, pit formation assays, and tartrate-resistant acid phosphatase (TRAP) staining were performed. Using an osteoporosis rat model, ovariectomized (OVX) rats received calcitonin, SDCP, or calcitonin + SDCP. The microarchitecture of the fifth lumbar trabecular bone was investigated, and histomorphometric and biochemical analyses were performed.Results
Calcitonin inhibited SDCP-induced apoptosis in primary osteoclast cultures, increased Bcl-2 and Erk activity, and decreased Mcl-1 activity. Calcitonin prevented decreased osteoclast survival but not resorption induced by SDCP. Histomorphometric analysis of the tibia revealed increased bone formation, and microcomputed tomography of the fifth lumbar vertebrate showed an additive effect of calcitonin and SDCP on bone volume. Finally, analysis of the serum bone markers CTX-I and P1NP suggests that the increased bone volume induced by co-treatment with calcitonin and SDCP may be due to decreased bone resorption and increased bone formation.Conclusions
Calcitonin reduces SDCP-induced osteoclast apoptosis and increases its efficacy in an in vivo model of osteoporosis. 相似文献10.
Wei HW Chiang YF Chen YW Cheng CK Tsuang YH 《Journal of applied biomaterials & functional materials》2012,10(2):e107-e112
Purpose: Deeper insights into the mechanical behavior of lumbar disc prostheses are required. Prior studies on the biomechanical performance of artificial discs were mostly performed with finite element analyses, but this has never been analyzed with altering articulate curvature. This study aimed to ascertain the influence of the geometry of a ball-and-socket disc prosthesis for the lumbar spine. Materials and Methods: Three-dimensional finite element model of human L4-L5 was reconstructed. Convex, concave, and elliptic artificial disc models were also established with Computer-Aided-Design software. Simulations included: (1) three articulate types of polyethylene (PE) insert were implanted inferiorly and (2) concave and convex PE inserts were implanted on the superior or inferior sides in flexion/extension, lateral bending, and axial rotation in the lumbar spine. Shear stresses and von Mises stresses on PE insert were assessed for their loading distributions. Results: High shear stresses of all articulate types occurred in flexion, and convex PE insert performed the maximum stress of 23.81 MPa. Under all conditions, stresses on concave PE inserts were distributed more evenly and lower than those on the convex type. Elliptic geometry enabled confining the rotation of the motion unit. The shear force on the convex PE insert on the inferior side could induce transverse crack because the shear stress exceeded yielding shear stress. Conclusions: The concave PE insert on the inferior side not only decreased loading concentration but had relatively low stress. Such a design may be applicable for artificial discs. 相似文献