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1.
Zool Stud ; 62: e25, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37533557

RESUMO

Abscondita cerata is the most abundant and widely distributed endemic firefly species in Taiwan and is considered a key environmental and ecological indicator organism. In this study, we report the first long-read genome sequencing of Abs. cerata sequenced by Nanopore technology. The draft genome size, 967 Mb, was measured through a hybrid approach that consisted of assembling using 11.25-Gb Nanopore long reads and polishing using 9.47-Gb BGI PE100 short reads. The drafted genome was assembled into 4,855 contigs, with the N50 reaching 325.269 kb length. The assembled genome was predicted to possess 55,206 protein-coding genes, of which 20,862 (37.78%) were functionally annotated with public databases. 47.11% of the genome sequences consisted of repeat elements; among them DNA transposons accounted for the largest proportion (26.79%). A BUSCO (Benchmarking Universal Single Copy Orthologs) evaluation demonstrated that the genome and gene completeness were 84.8% and 79%, respectively. The phylogeny constructed using 1,792 single copy genes was consistent with previous studies. The comparative transcriptome between adult male head and lantern tissues revealed (1) the vision of Abs. cerata is primarily UV-sensitive to environmental twilight, which determines when it begins its nocturnal activity, (2) the major expressed OR56d receptor may be correlated to suitable humidity sensing, and (3) Luc1-type luciferase is responsible for Abs. cerata's luminescent spectrum.

2.
Cell Biosci ; 12(1): 162, 2022 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-36180897

RESUMO

BACKGROUND: Immune checkpoints are a set of costimulatory and inhibitory molecules that maintain self-tolerance and regulate immune homeostasis. The expression of immune checkpoints on T cells in malignancy, chronic inflammation, and neurodegenerative diseases has gained increasing attention. RESULTS: To characterize immune checkpoints in neurodegenerative diseases, we aimed to examine the expression of the immune checkpoint PD-1/PD-L1 in peripheral T cells in different Alzheimer's disease (AD) patients. To achieve this aim, sixteen AD patients and sixteen age-matched healthy volunteers were enrolled to analyze their CD3+ T cells, CD3+CD56+ (neural cell adhesion molecule, NCAM) T cells, CD4+/CD8+ T cells, and CD4+/CD8+CD25+ (interleukin-2 receptor alpha, IL-2RA) T cells in this study. The expression of PD-1 on T cells was similar between the AD patients and healthy volunteers, but increased expression of PD-L1 on CD3+CD56+ T cells (natural killer T cells, NKT-like), CD4+ T cells (helper T cells, Th), CD4+CD25+ T cells, and CD8+ T cells (cytotoxic T lymphocytes, CTL) was detected in the AD patients. In addition, we found negative correlations between the AD patients' cognitive performance and both CD8+ T cells and CD8+CD25+ T cells. To identify CD8+ T-cell phenotypic and functional characteristic differences between the healthy volunteers and AD patients in different stages, a machine learning algorithm, t-distributed stochastic neighbor embedding (t-SNE), was implemented. Using t-SNE enabled the above high-dimensional data to be visualized and better analyzed. The t-SNE analysis demonstrated that the cellular sizes and densities of PD-1/PD-L1 on CD8+ T cells differed among the healthy, mild AD, and moderate AD subjects. CONCLUSIONS: Our results suggest that changes in PD-1/PD-L1-expressing T cells in AD patients' peripheral blood could be a potential biomarker for monitoring disease and shed light on the AD disease mechanism. Moreover, these findings indicate that PD-1/PD-L1 blockade treatment could be a novel choice to slow AD disease deterioration.

3.
Bioprocess Biosyst Eng ; 45(11): 1857-1864, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36153378

RESUMO

To simulate acetate consumption and electricity generation in a cycle of a microbial fuel cell (MFC) treating synthetic acetate-based wastewater with low concentration, nonelectrogenic bacteria (NEB), which had no contribution in electricity generation, was incorporated with methanogen's kinetic parameters into a previous biofilm model proposed by Marcus et al. (Biotechnol Bioeng 98:1171-1182, 2007). However, the Coulombic efficiency was estimated to be 40.1%, whereas the experiment showed 13.6%, as the presence of NEB was obviously underestimated. Thus, the maximum NEB reaction rate (qmaxC) was temporarily calibrated, and a sensitivity analysis was then conducted. As a result, the growth parameters of NEB, the growth of the exoelectrogenic bacteria, and the biofilm detachment were identified as influential parameters. qmaxC and a half rate constant of NEB (KsC) were selected as potential calibration parameters. The two sets of calibrated parameters (0.342 mmol-acetate (Ac)/mg-volatile solids (VS)/d of qmaxC and 33.8 mg-carbon (C)/L of KsC; 0.274 mmol-Ac/mg-VS/d of qmaxC and 16.9 mg-C/L of KsC) showed a good agreement with the experimental results at 100 mg-C/L of initial acetate. However, the calibrated parameter values obviously differed from those in previous models. The calibrated model also showed good agreement with the experimental results at 50 and 200 mg-C/L of the initial acetate. In view of the different values of qmaxC and KsC from those of methanogenic bacteria in previous models and the previous findings on anode microbial community, which showed that NEB are not only methanogenic bacteria, we concluded that the diversity of NEB should be considered to simulate performances in a cycle of MFC treating low organic matter concentrations.


Assuntos
Fontes de Energia Bioelétrica , Fontes de Energia Bioelétrica/microbiologia , Eletricidade , Bactérias/metabolismo , Eletrodos , Acetatos/metabolismo
4.
J Fish Biol ; 99(5): 1668-1676, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34392529

RESUMO

DNA metabarcoding analysis for gut contents has been shown to compensate the disadvantage of traditionally morphological identification and offer higher resolution of prey items in an efficient way. Holland's carp (Spinibarbus hollandi) is a freshwater fish native to southern and eastern Taiwan. In the past two decades, this species has been introduced as a sport fish into the river basins of northern and western Taiwan. The large body size and active predation make it a potential threat for native fishes, but which native species are preyed by Holland's carp remains unknown. In this study, the diet from the gut contents of Holland's carp from the Zhonggang River, an invaded basin, was examined using DNA metabarcoding from 51 individuals and by morphological examinations on 140 samples. Detritus of plants were found in 83.6% samples (117 individuals). Twenty fish species of seven families were identified by DNA metabarcoding, including species of all water layers. Taiwan torrent carp (Acrossocheilus paradoxus) and Rhinogobius spp. are the most common prey items. Based on the results of this study, Holland's carp is considered an opportunistic omnivore because of its diverse diet items, which is an important trait for successful invasive fish species. The population decline of Opsariichthys pachycephalus may not result from the invasion of Holland's carps. Nonetheless, the time lag between successful invasion and the samplings of this study may be a concern because the population size of O. pachycephalus may have declined and become difficult to prey. The Holland's carps consumed the least species in winter; nonetheless, the occurrence frequencies of preys among seasons were not significantly different probably because of limited temperature fluctuation. The smallest Holland's carps consumed the least prey species compared to other size categories, similar to the relationship of prey species number to size of invasive largemouth bass (Micropterus salmoides).


Assuntos
Carpas , Animais , Carpas/genética , Código de Barras de DNA Taxonômico , Dieta , Peixes , Países Baixos , Taiwan
5.
Mol Biol Evol ; 36(3): 447-457, 2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30590689

RESUMO

Vertebrates have four classes of cone opsin genes derived from two rounds of genome duplication. These are short wavelength sensitive 1(SWS1), short wavelength sensitive 2(SWS2), medium wavelength sensitive (RH2), and long wavelength sensitive (LWS). Teleosts had another genome duplication at their origin and it is believed that only one of each cone opsin survived the ancestral teleost duplication event. We tested this by examining the retinal cones of a basal teleost group, the osteoglossomorphs. Surprisingly, this lineage has lost the typical vertebrate green-sensitive RH2 opsin gene and, instead, has a duplicate of the LWS opsin that is green sensitive. This parallels the situation in mammalian evolution in which the RH2 opsin gene was lost in basal mammals and a green-sensitive opsin re-evolved in Old World, and independently in some New World, primates from an LWS opsin gene. Another group of fish, the characins, possess green-sensitive LWS cones. Phylogenetic analysis shows that the evolution of green-sensitive LWS opsins in these two teleost groups derives from a common ancestral LWS opsin that acquired green sensitivity. Additionally, the nocturnally active African weakly electric fish (Mormyroideae), which are osteoglossomorphs, show a loss of the SWS1 opsin gene. In comparison with the independently evolved nocturnally active South American weakly electric fish (Gymnotiformes) with a functionally monochromatic LWS opsin cone retina, the presence of SWS2, LWS, and LWS2 cone opsins in mormyrids suggests the possibility of color vision.


Assuntos
Opsinas dos Cones/genética , Peixe Elétrico/genética , Sequência de Aminoácidos , Animais , Opsinas dos Cones/química , Células Fotorreceptoras de Vertebrados/química , Filogenia , Sintenia
6.
Sci Rep ; 8(1): 16055, 2018 10 30.
Artigo em Inglês | MEDLINE | ID: mdl-30375514

RESUMO

Expression of nuptial color is usually energetically costly, and is therefore regarded as an 'honest signal' to reflect mate quality. In order to choose a mate with high quality, both sexes may benefit from the ability to precisely evaluate their mates through optimizing visual systems which is in turn partially regulated by opsin gene modification. However, how terrestrial vertebrates regulate their color vision sensitivity is poorly studied. The green-spotted grass lizard Takydromus viridipunctatus is a sexually dimorphic lizard in which males exhibit prominent green lateral colors in the breeding season. In order to clarify relationships among male coloration, female preference, and chromatic visual sensitivity, we conducted testosterone manipulation with mate choice experiments, and evaluated the change of opsin gene expression from different testosterone treatments and different seasons. The results indicated that males with testosterone supplementation showed a significant increase in nuptial color coverage, and were preferred by females in mate choice experiments. By using quantitative PCR (qPCR), we also found that higher levels of testosterone may lead to an increase in rhodopsin-like 2 (rh2) and a decrease in long-wavelength sensitive (lws) gene expression in males, a pattern which was also observed in wild males undergoing maturation as they approached the breeding season. In contrast, females showed the opposite pattern, with increased lws and decreased rh2 expression in the breeding season. We suggest this alteration may facilitate the ability of male lizards to more effectively evaluate color cues, and also may provide females with the ability to more effectively evaluate the brightness of potential mates. Our findings suggest that both sexes of this chromatically dimorphic lizard regulate their opsin expression seasonally, which might play an important role in the evolution of nuptial coloration.


Assuntos
Lagartos/genética , Opsinas/genética , Caracteres Sexuais , Testosterona/genética , Animais , Visão de Cores/genética , Feminino , Regulação da Expressão Gênica/genética , Lagartos/fisiologia , Masculino , Preferência de Acasalamento Animal , Pigmentação/genética , Reprodução/genética , Estações do Ano , Comportamento Sexual/fisiologia
7.
Sci Rep ; 7(1): 15568, 2017 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-29138475

RESUMO

We studied the evolution of opsin genes in 59 ray-finned fish genomes. We identified the opsin genes and adjacent genes (syntenies) in each genome. Then we inferred the changes in gene copy number (N), syntenies, and tuning sites along each phylogenetic branch during evolution. The Exorh (rod opsin) gene has been retained in 56 genomes. Rh1, the intronless rod opsin gene, first emerged in ancestral Actinopterygii, and N increased to 2 by the teleost-specific whole genome duplication, but then decreased to 1 in the ancestor of Neoteleostei fishes. For cone opsin genes, the rhodopsin-like (Rh2) and long-wave-sensitive (LWS) genes showed great variation in N among species, ranging from 0 to 5 and from 0 to 4, respectively. The two short-wave-sensitive genes, SWS1 and SWS2, were lost in 23 and 6 species, respectively. The syntenies involving LWS, SWS2 and Rh2 underwent complex changes, while the evolution of the other opsin gene syntenies was much simpler. Evolutionary adaptation in tuning sites under different living environments was discussed. Our study provides a detailed view of opsin gene gains and losses, synteny changes and tuning site changes during ray-finned fish evolution.


Assuntos
Evolução Molecular , Peixes/genética , Opsinas/genética , Opsinas de Bastonetes/genética , Animais , Genoma/genética , Metagenômica , Opsinas/classificação , Filogenia , Opsinas de Bastonetes/classificação , Sintenia/genética
8.
Zool Stud ; 56: e40, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-31966239

RESUMO

Shih-Pin Huang, Feng-Yu Wang, and Tzi-Yuan Wang (2017) The complete mitochondrial genomes of 76 species from 43 genera under Cyprinidae sensu lato were collected to reassess the molecular phylogeny of Opsariichthyinae sensu Liao et al. 2011. The mitogenomes of three species, Candidia barbata, Opsariichthys evolans, and Opsariichthys pachycephalus, were newly sequenced. Phylogenetic trees were reconstructed based on 13 concatenated multiple protein-coding genes with two ribosomal RNA genes. The concatenated dataset provided a new perspective on systematics and relationships. Tree topologies show that a monophyletic group containing Parazacco, Candidia, Nipponocypris, Zacco, and Opsariichthys should belong to the Opsariichthys group. In addition, the present results also strongly support that Candidia and Nipponocypris should be regarded as distinct genera within the Opsariichthys group. Aphyocypris, Yaoshanicus, Nicholsicypris, and Pararasbora form a monophyletic group within Xenocyprididae, distinct from the Opsariichthys group. Furthermore, Hemigrammocypris is nested with four species of Metzia, a genus of ex-Cultrinae in Xenocyprididae. In addition, two major types of distinct stripes - longitudinal and vertical - were observed among species of the Opsariichthys group and were highly correlated with molecular phylogenetic relationships. Such types of vertical and longitudinal stripes presented in the Opsariichthys group might have originated in an ancestor species, after which distinct vertical stripes might have been lost among these cyprinids but retained in the Opsariichthys group.

9.
Mitochondrial DNA A DNA Mapp Seq Anal ; 27(6): 4274-4275, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-26436958

RESUMO

We determined the mitochondrial genome (mitogenome) sequence of Nemateleotris decora by using a long polymerase chain reaction (PCR) method and next-generation sequence (NGS) technology. The total length of N. decora mitogenome is 16 502 bp, consisting of 13 protein-coding genes, 22 transfer RNAs, two ribosomal RNAs genes, and a non-coding control region. The overall base composition of N. decora is 25.22% for A, 25.90% for T, 30.69% for G, and 18.19% for C. Our results showed the complete mitogenome is a good marker for the phylogenetic study.


Assuntos
Genoma Mitocondrial/genética , Mitocôndrias/genética , Perciformes/genética , Animais , Composição de Bases/genética , DNA Mitocondrial/genética , Ordem dos Genes/genética , Filogenia , RNA Ribossômico/genética , RNA de Transferência/genética , Análise de Sequência de DNA/métodos , Sequenciamento Completo do Genoma/métodos
10.
Artigo em Inglês | MEDLINE | ID: mdl-24660919

RESUMO

We determined the complete mitochondrial genome (mitogenome) sequence of Belligobio nummifer, which is known as a cyprinid fish in mainland China, with a long polymerase chain reaction (PCR) method. The total length of B. nummifer mitogenome is 16,610 bp, consisting of 13 protein-coding genes, 22 transfer RNAs, 2 ribosomal RNAs genes and a noncoding control region. The overall base composition of B. nummifer is 29.74% for A, 26.12% for T, 17.18% for G, and 26.97% for C, with a slight AT bias of 55.86%. The complete mitogenomic data may provide more informative for phylogenetic approach for gudgeons phylogeny.


Assuntos
Cyprinidae/genética , Genoma Mitocondrial/genética , Análise de Sequência de DNA , Animais , DNA Mitocondrial/genética , Anotação de Sequência Molecular , Dados de Sequência Molecular
11.
Mitochondrial DNA B Resour ; 1(1): 134-135, 2016 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-33473435

RESUMO

The complete mitogenomes of Cheilopogon unicolor, C. arcticeps and C. atrisignis were determined by the next-generation sequencing (NGS) method. The assembled mitogenome of C. unicolor, C. arcticeps and C. atrisignis consist of 16 529 bp, 16 530 bp and 16 530 bp, respectively. Three mitogenomes contain the typical gene complement including 13 protein-coding genes, 22 transfer RNAs, two ribosomal RNA genes and a non-coding D-loop. The length of D-loop is 870 bp (C. unicolor and C. arcticeps) and 869 bp (C. atrisignis), located between tRNA-Pro and tRNA-Phe. Phylogenetic analysis indicates that Cheilopogon is not monophyly. The mitogenomes of C. unicolor, C. atrisignis and C. arcticeps may provide useful information for phylogentic and population genetic analysis for flyingfishes.

12.
PLoS One ; 9(8): e103953, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25101636

RESUMO

Catadromous fishes migrate between ocean and freshwater during particular phases of their life cycle. The dramatic environmental changes shape their physiological features, e.g. visual sensitivity, olfactory ability, and salinity tolerance. Anguilla marmorata, a catadromous eel, migrates upstream on dark nights, following the lunar cycle. Such behavior may be correlated with ontogenetic changes in sensory systems. Therefore, this study was designed to identify changes in spectral sensitivity and opsin gene expression of A. marmorata during upstream migration. Microspectrophotometry analysis revealed that the tropical eel possesses a duplex retina with rod and cone photoreceptors. The λmax of rod cells are 493, 489, and 489 nm in glass, yellow, and wild eels, while those of cone cells are 508, and 517 nm in yellow, and wild eels, respectively. Unlike European and American eels, Asian eels exhibited a blue-shifted pattern of rod photoreceptors during upstream migration. Quantitative gene expression analyses of four cloned opsin genes (Rh1f, Rh1d, Rh2, and SWS2) revealed that Rh1f expression is dominant at all three stages, while Rh1d is expressed only in older yellow eel. Furthermore, sequence comparison and protein modeling studies implied that a blue shift in Rh1d opsin may be induced by two known (N83, S292) and four putative (S124, V189, V286, I290) tuning sites adjacent to the retinal binding sites. Finally, expression of blue-shifted Rh1d opsin resulted in a spectral shift in rod photoreceptors. Our observations indicate that the giant mottled eel is color-blind, and its blue-shifted scotopic vision may influence its upstream migration behavior and habitat choice.


Assuntos
Anguilla/fisiologia , Migração Animal , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Visão Ocular/fisiologia , Animais , Visão de Cores , Ecossistema , Regulação da Expressão Gênica no Desenvolvimento , Opsinas/química , Opsinas/genética , Opsinas/metabolismo , Filogenia , Rodopsina/química , Rodopsina/genética , Rodopsina/metabolismo , Especificidade da Espécie
13.
PLoS One ; 9(6): e100330, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24963891

RESUMO

Optomotor studies have shown that three-spined sticklebacks (Gasterosteus aculeatus) are more sensitive to red during summer than winter, which may be related to the need to detect the red breeding colour of males. This study aimed to determine whether this change of red light sensitivity is specifically related to reproductive physiology. The mRNA levels of opsin genes were examined in the retinae of sexually mature and immature fish, as well as in sham-operated males, castrated control males, or castrated males implanted with androgen 11-ketoandrostenedione (11 KA), maintained under stimulatory (L16:D8) or inhibitory (L8:D16) photoperiods. In both sexes, red-sensitive opsin gene (lws) mRNA levels were higher in sexually mature than in immature fish. Under L16:D8, lws mRNA levels were higher in intact than in castrated males, and were up-regulated by 11 KA treatment in castrated males. Moreover, electroretinogram data confirmed that sexual maturation resulted in higher relative red spectral sensitivity. Mature males under L16:D8 were more sensitive to red light than males under L8:D16. Red light sensitivity under L16:D8 was diminished by castration, but increased by 11 KA treatment. Thus, in sexually mature male sticklebacks, androgen is a key factor in enhancing sensitivity to red light via regulation of opsin gene expression. This is the first study to demonstrate that sex hormones can regulate spectral vision sensitivity.


Assuntos
Androgênios/farmacologia , Regulação da Expressão Gênica/efeitos dos fármacos , Opsinas/genética , Pigmentação , Smegmamorpha/genética , Animais , Eletrorretinografia , Feminino , Masculino , Pigmentação/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reprodução/genética , Smegmamorpha/metabolismo , Smegmamorpha/fisiologia
15.
Can J Physiol Pharmacol ; 90(12): 1623-33, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23210441

RESUMO

Doxazosin used in benign prostatic hyperplasia has the side effects of causing hypotension and the risk of heart failure. The 3 targets of α(1A)-adrenoceptors (in the prostate), α(1D)-adrenoceptors (in the aorta), and an unknown mechanism (in the heart) are involved, respectively. We hypothesized that there is a chiral recognition of doxazosin enantiomers in the 3 targets. Using isolated rat aorta (α(1D)-adrenoceptors) and rabbit prostate (α(1A)-adrenoceptors), we examined pA(2) and pK(B) values of doxazosin enantiomers. We observed chronotropic and inotropic effects of doxazosin enantiomers in isolated rat and rabbit heart tissues. (-)Doxazosin and (+)doxazosin produced a shift to the right of concentration-contraction curves for noradrenalin (aorta) and phenylephrine (prostate smooth muscle). The pA(2) value of (-)doxazosin (8.625 ± 0.053) was smaller than (+)doxazosin (9.503 ± 0.051) in rat aorta, but their pK(B) values in rabbit prostate were the same. In rat and rabbit heart tissues, (+)doxazosin (3-30 µmol·L(-1)) significantly decreased atrial rate, and produced negative inotropic effects; however, (-)doxazosin did not affect the atrial rate, and produced positive inotropic effects in the atria. Thus, the chiral carbon atom of doxazosin does not affect its activity at the therapeutic target of α(1A)-adrenoceptors in the prostate, but significantly changes its blocking activity against α(1D)-adrenoceptors in the aorta, and produces opposite inotropic effects in the atria via an α(1)-adrenoceptor-independent mechanism.


Assuntos
Aorta/efeitos dos fármacos , Doxazossina/farmacocinética , Doxazossina/toxicidade , Próstata/efeitos dos fármacos , Receptores Adrenérgicos alfa 1/metabolismo , Animais , Aorta/metabolismo , Átrios do Coração/efeitos dos fármacos , Átrios do Coração/metabolismo , Ventrículos do Coração/efeitos dos fármacos , Ventrículos do Coração/metabolismo , Masculino , Contração Miocárdica/efeitos dos fármacos , Norepinefrina/metabolismo , Fenilefrina/metabolismo , Próstata/metabolismo , Coelhos , Ratos , Ratos Wistar , Estereoisomerismo
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(2): 145-8, 2012 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-22487821

RESUMO

OBJECTIVE: To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province. METHODS: Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced. RESULTS: A c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls. CONCLUSION: A c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.


Assuntos
Mutação de Sentido Incorreto , Miopia/genética , Cegueira Noturna/genética , Rodopsina/genética , Adulto , Sequência de Aminoácidos , China , Análise Mutacional de DNA/métodos , Oftalmopatias Hereditárias , Feminino , Doenças Genéticas Ligadas ao Cromossomo X , Predisposição Genética para Doença , Humanos , Masculino , Dados de Sequência Molecular , Alinhamento de Sequência/métodos
17.
Vision Res ; 51(9): 1099-108, 2011 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-21385593

RESUMO

The goal of this study was to investigate how the eyes of different species of moray eel evolved to cope with limitations to vision imposed on them by the photic environments in which they reside. The comparative retinal histological structures and visual pigment characteristics including opsin gene sequences, of four species of moray eel inhabiting diverse habitats (i.e., shallow-water species, Rhinomuraena quaesita and Gymnothorax favagineus, and deep-sea species, Gymnothorax reticularis and Strophidon sathete) were examined. The histological sections showed that retinal layer structures of R. quaestia are significantly different from those of the other three species which likely reflects the effects of distribution depth on the structures. The maximal absorbance wavelength (λ(max)) of photoreceptor cells, as measured by microspectrophotometry (MSP), showed a close correlation between the λ(max) and the intensity/spectral quality of the light environment where each species lives. The spectra-shift, between shallow and deep-sea species, observed in the rods cells results from amino acid substitution in Rh1 gene, while that in cones most likely results from differential expression of multiple Rh2 genes.


Assuntos
Enguias/fisiologia , Retina/citologia , Adaptação Biológica , Animais , Enguias/genética , Microespectrofotometria , Opsinas/genética , Retina/química , Células Fotorreceptoras Retinianas Cones/fisiologia , Epitélio Pigmentado da Retina/citologia , Pigmentos da Retina/química , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Análise de Sequência de DNA , Especificidade da Espécie
18.
Yi Chuan ; 33(2): 147-52, 2011 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-21377971

RESUMO

We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. A c.2265C>A heterozygous mutation was detected in all of the patients. This mutation led to the change of p.Y755X in protein level and a truncated ROR2 protein losing integrant domains was generated. The mutation was detected in all the patients, but not in all the normal individuals of this family and 50 normal controls. This paper for the first time reported a c.2265C>A mutation in ROR2 gene of a family with BDB1 in China, which enriches ROR2 gene mutation spectrum in Chinese with BDB1.


Assuntos
Povo Asiático/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Mutação de Sentido Incorreto , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/genética , Adolescente , Adulto , Sequência de Aminoácidos , Animais , Sequência de Bases , Criança , Pré-Escolar , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Mutação Puntual , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/química , Alinhamento de Sequência , Adulto Jovem
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 27(6): 644-9, 2010 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-21154324

RESUMO

OBJECTIVE: To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis. METHODS: All the exons and partial flanking introns of the PAH gene were detected by polymerase chain reaction (PCR) and bi-directional sequencing in 34 patients with PKU from Henan province. RESULTS: A total of 23 different disease-causing mutations were identified which corresponded to 92.65% (63/68) of the PAH alleles, including 12 missense mutations, 4 nonsense mutations, 4 splicing junction mutations, and 3 deletion mutations. Among them, A156P and P69_S70delinsP(delCTT) were novel mutations; IVS2+ 5G to C, G332E, IVS10-14C to G and L367 to Wfs were reported in Chinese population for the first time according to the PAH database (www.pahdb.mcgill.ca). Among all the 13 exons, exon 7 harbored the most type of mutations, exon 11 and exon 5 the second. The most common mutations included R243Q (17.65%, 12/68), V399V (11.76%, 8/68), IVS4-1G to A (8.82%, 6/68), R400T(7.35%, 5/68), Y166X(5.88%,4/68) and G247R(5.88%, 4/68). In addition, 9 other gene variations were found in this study. CONCLUSION: The mutation spectrum and frequency of the PAH gene of patients with phenylketonuria in Henan province were slightly different from those from other parts of China.


Assuntos
Povo Asiático/genética , Mutação/genética , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Sequência de Bases , Criança , Pré-Escolar , China , Análise Mutacional de DNA , Feminino , Aconselhamento Genético , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Fenilcetonúrias/diagnóstico , Diagnóstico Pré-Natal
20.
World J Gastroenterol ; 16(6): 770-7, 2010 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-20135728

RESUMO

AIM: To evaluate the efficacy of antiviral or corticosteroid treatment on hepatitis B virus-associated glomerulonephritis (HBV-GN). METHODS: Six and five trials were used respectively to evaluate the efficacy of either antiviral or corticosteroid treatment on HBV-GN. Pediatric patients were pooled separately to assess their response to the above treatment modalities. The primary and secondary outcomes were remission of proteinuria and clearance of Hepatitis B e-antigen (HBeAg), respectively. A fixed or random effect model was established to collect the data. RESULTS: The remission rate of proteinuria (RR = 1.69, 95% CI: 1.08-2.65) and the clearance rate of HBeAg (RR = 6.44, 95% CI: 3.11-13.35) were significantly higher in antiviral treatment group than in control group. The proteinuria remission was significantly associated with HBeAg clearance (P = 0.002). However, the difference in proteinuria remission rate was not statistically significant between corticosteroid treatment group and control group (RR = 1.45, 95% CI: 0.68-3.11). Antiviral therapy could significantly promote the HBeAg clearance in pediatric patients, but neither antiviral nor corticosteroid therapy could significantly decrease proteinuria in pediatric patients compared to controls. CONCLUSION: Antiviral but not corticosteroid treatment can decrease proteinuria and promote HBeAg clearance in HBV-GN patients.


Assuntos
Corticosteroides/uso terapêutico , Antivirais/uso terapêutico , Glomerulonefrite/tratamento farmacológico , Glomerulonefrite/virologia , Vírus da Hepatite B , Hepatite B/tratamento farmacológico , Antígenos E da Hepatite B/sangue , Humanos , Interferons/uso terapêutico , Lamivudina/uso terapêutico , Proteinúria/tratamento farmacológico , Resultado do Tratamento
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