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Pete Kaiser Tuang Yeow Poh Lisa Rothwell Stuart Avery Sucharitha Balu Uday S Pathania Simon Hughes Marianne Goodchild Shaun Morrell Michael Watson Nat Bumstead Jim Kaufman John R Young 《Journal of interferon & cytokine research》2005,25(8):467-484
As most mechanisms of adaptive immunity evolved during the divergence of vertebrates, the immune systems of extant vertebrates represent different successful variations on the themes initiated in their earliest common ancestors. The genes involved in elaborating these mechanisms have been subject to exceptional selective pressures in an arms race with highly adaptable pathogens, resulting in highly divergent sequences of orthologous genes and the gain and loss of members of gene families as different species find different solutions to the challenge of infection. Consequently, it has been difficult to transfer to the chicken detailed knowledge of the molecular mechanisms of the mammalian immune system and, thus, to enhance the already significant contribution of chickens toward understanding the evolution of immunity. The availability of the chicken genome sequence provides the opportunity to resolve outstanding questions concerning which molecular components of the immune system are shared between mammals and birds and which represent their unique evolutionary solutions. We have integrated genome data with existing knowledge to make a new comparative census of members of cytokine and chemokine gene families, distinguishing the core set of molecules likely to be common to all higher vertebrates from those particular to these 300 million-year-old lineages. Some differences can be explained by the different architectures of the mammalian and avian immune systems. Chickens lack lymph nodes and also the genes for the lymphotoxins and lymphotoxin receptors. The lack of functional eosinophils correlates with the absence of the eotaxin genes and our previously reported observation that interleukin- 5 (IL-5) is a pseudogene. To summarize, in the chicken genome, we can identify the genes for 23 ILs, 8 type I interferons (IFNs), IFN-gamma, 1 colony-stimulating factor (GM-CSF), 2 of the 3 known transforming growth factors (TGFs), 24 chemokines (1 XCL, 14 CCL, 8 CXCL, and 1 CX3CL), and 10 tumor necrosis factor superfamily (TNFSF) members. Receptor genes present in the genome suggest the likely presence of 2 other ILs, 1 other CSF, and 2 other TNFSF members. 相似文献
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Eva Maria Cutiongco‐de la Paz Brian Hon‐Yin Chung Sultana M. H. Faradz Meow‐Keong Thong Carmencita David‐Padilla Poh San Lai Shuan‐Pei Lin Yin‐Hsiu Chen Thanyachai Sura Mercy Laurino 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(2):177-186
The status of training in clinical genetics and genetic counseling in Asia is at diverse stages of development and maturity. Most of the training programs are in academic training centers where exposure to patients in the clinics or in the hospital is a major component. This setting provides trainees with knowledge and skills to be competent geneticists and genetic counselors in a variety of patient care interactions. Majority of the training programs combine clinical and research training which provide trainees a broad and integrated approach in the diagnosis and management of patients while providing opportunities for research discoveries that can be translated to better patient care. The background on how the training programs in clinical genetics and genetic counseling in Asia evolved to their current status are described. Each of these countries can learn from each other through sharing of best practices and resources. 相似文献
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Enterovirus 71 (EV71) is a highly infectious major causative agent of hand, foot, and mouth disease (HFMD) which could lead to severe neurological complications. There is currently no effective therapy against EV71. In this study, RNA interference (RNAi) is employed as a therapeutic approach for specific viral inhibition. Various regions of the EV71 genome were targeted for inhibition by chemically synthesized siRNAs. Transfection of rhabdomyosarcoma (RD) cells with siRNA targeting the 3'UTR, 2C, 3C, or 3D region significantly alleviated cytopathic effects of EV71. The inhibitory effect was dosage-dependent with a corresponding decrease in viral RNA, viral proteins, and plaque formations by EV71. Viral inhibition of siRNA transfected RD cells was still evident after 48 h. In addition, no significant adverse off-target silencing effects were observed. These results demonstrated the potential and feasibility for the use of siRNA as an antiviral therapy for EV71 infections. 相似文献
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Canfield MC; Tamarappoo BK; Moses AM; Verkman AS; Holtzman EJ 《Human molecular genetics》1997,6(11):1865-1871
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused
most often by mutations in the vasopressin V2 receptor (AVPR2). We studied
a family which included a female patient with NDI with symptoms dating from
infancy. The patient responded to large doses of desmopressin (dDAVP) which
decreased urine volume from 10 to 4 I/day. Neither the parents nor the
three sisters were polyuric. The patient was found to be a compound
heterozygote for two novel recessive point mutations in the aquaporin-2
(AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is
the site for inhibition of water permeation by mercurial compounds and is
located near to the NPA motif conserved in all aquaporins. Osmotic water
permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2
was not increased over water control, while expression of L22V cRNA
increased the Pf to approximately 60% of that for wild-type AQP2.
Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the
function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO
cells showed that the C181W mutant had an endoplasmic reticulum-like
intracellular distribution, whereas L22V and wild-type AQP2 showed endosome
and plasma membrane staining. Water permeability assays showed a high Pf in
cells expressing wild-type and L22V AQP2. This study indicates that AQP2
mutations can confer partially responsive NDI.
相似文献
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This comparative study was conducted to determine the anthropometric measurements and body composition of football teams in the UK and Malaysia. A total of 32 footballers from two teams were studied. The teams were the St Mary's University team (UK) and the Selangor Reserved League team. The height and body weight of the subjects were measured using SECA digital balance with height attachment. Skinfold thickness measurements were taken using Harpenden skinfold callipers at four sites (biceps, triceps, subscapular and suprailiac) and the VO2max of the subjects was estimated by participation in a multi-stage 20m shuttle-run test. The UK team were significantly heavier (p<0.05), taller (p<0.05) and had a higher body fat content (p<0.05) than their Malaysian counterpart. There was no significant difference in VO2 max between the two teams, with the Malaysians recording a slightly higher VO2 max. With regard to playing position, the defenders were found to be the most physically robust and yet had the highest VO2 max, whilst the midfielders had the lightest body weights. More data on the body composition and nutritional status of Malaysian footballers would allow adjustments to be made to dietary intakes and training levels in order to obtain maximum performance throughout the football season. 相似文献
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Muhammad Jamil Omar Ahmad Kian Keong Poh Choon Hwai Yap 《Ultrasound in medicine & biology》2017,43(7):1314-1330
Current Doppler echocardiography quantification of mitral regurgitation (MR) severity has shortcomings. Proximal isovelocity surface area (PISA)-based methods, for example, are unable to account for the fact that ultrasound Doppler can measure only one velocity component: toward or away from the transducer. In the present study, we used ultrasound-based computational fluid dynamics (Ub-CFD) to quantify mitral regurgitation and study its advantages and disadvantages compared with 2-D and 3-D PISA methods. For Ub-CFD, patient-specific mitral valve geometry and velocity data were obtained from clinical ultrasound followed by 3-D CFD simulations at an assumed flow rate. We then obtained the average ratio of the ultrasound Doppler velocities to CFD velocities in the flow convergence region, and scaled CFD flow rate with this ratio as the final measured flow rate. We evaluated Ub-CFD, 2-D PISA and 3-D PISA with an in vitro flow loop, which featured regurgitation flow through (i) a simplified flat plate with round orifice and (ii) a 3-D printed realistic mitral valve and regurgitation orifice. The Ub-CFD and 3-D PISA methods had higher precision than the 2-D PISA method. Ub-CFD had consistent accuracy under all conditions tested, whereas 2-D PISA had the lowest overall accuracy. In vitro investigations indicated that the accuracy of 2-D and 3-D PISA depended significantly on the choice of aliasing velocity. Evaluation of these techniques was also performed for two clinical cases, and the dependency of PISA on aliasing velocity was similarly observed. Ub-CFD was robustly accurate and precise and has promise for future translation to clinical practice. 相似文献