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1.
As an essential repressor, the homeobox gene Hesx1/HESX1 is required within the anterior neural plate for normal forebrain development. Mutations within the Hesx1 gene have been associated with GH deficiency or combined pituitary hormone deficiency. We detected the polymorphism of Hesx1 gene by PCR-SSCP and DNA sequencing methods in 702 individuals from four Chinese cattle breeds. A novel single nucleotide
polymorphism (SNP) (IVS1 + 382T > C) was detected. The frequencies of genotype TC in four breeds were 0.000–0.222. Polymorphism
of the Hesx1 gene was shown to be associated with growth in the Nanyang breed. Individuals with genotype TC was significantly lower average
daily gain than TT at 18 months (P < 0.05). 相似文献
2.
In the absence of exogenous Ca2+ and Mg2+ and in the presence of EGTA, which favours the release of endogenous Ca2+, the polyamine spermine is able to stimulate the activity of pyruvate dehydrogenase complex (PDC) of energized rat liver
mitochondria (RLM). This stimulation exhibits a gradual concentration-dependent trend, which is maximum, about 140%, at 0.5 mM
concentration, after 30 min of incubation. At concentrations higher than 0.5 mM, spermine still stimulates PDC, when compared
with the control, but shows a slight dose-dependent decrease. Changes in PDC stimulation are very close to the phosphorylation
level of the E1α subunit of PDC, which regulates the activity of the complex, but it is also the target of spermine. In other words, progressive
dephosphorylation gradually enhances the stimulation of RLM and progressive phosphorylation slightly decreases it. These results
provide the first evidence that, when transported in RLM, spermine can interact in various ways with PDC, showing dose-dependent
behaviour. The interaction most probably takes place directly on a specific site for spermine on one of the regulatory enzymes
of PDC, i.e. pyruvate dehydrogenase phosphatase (PDP). The interaction of spermine with PDC may also involve activation of
another regulatory enzyme, pyruvate dehydrogenase kinase (PDK), resulting in an increase in E1α phosphorylation and consequently reduced stimulation of PDC at high polyamine concentrations. The different effects of spermine
in RLM are discussed, considering the different activities of PDP and PDK isoenzymes. It is suggested that the polyamine at
low concentrations stimulates the isoenzyme PDP2 and at high concentrations it stimulates PDK2. 相似文献
3.
Susmita Ghosh Amlan Ghosh Guru Prasad Maiti Neyaz Alam Anup Roy Susanta Roychoudhury Chinmay Kumar Panda 《Human genetics》2009,125(2):189-198
Deletion of chromosomal 3p12.3 was suggested to be associated with dysplastic lesions of head and neck. This region harbors
two candidate tumor suppressors ROBO1/DUTT1,
ROBO2 and two non-coding RNAs (ncRNAs) located at intron 2 of ROBO1/DUTT1. Aim of this study is to understand the role of these genes in development of head and neck squamous cell carcinoma. A collection
of 72 dysplastic lesions and 116 HNSCC samples and two oral cancer cell lines were analyzed for ROBO1/DUTT1 and ROBO2 deletion and promoter methylation. ROBO1/DUTT1, ROBO2 and two ncRNAs mRNA expression were analyzed by Q-PCR. Immunohistochemical analysis of ROBO1/DUTT1 and ROBO2 was performed. Alterations of these genes were correlated with different clinicopathological parameters. High frequency of
molecular alterations (deletion/methylation) was seen in ROBO1/DUTT1 than ROBO2. In mild dysplastic lesions both of these genes showed high molecular alterations and remained more or less constant in subsequent
stages. Q-PCR analysis showed reduced expression of these genes and the two ncRNAs. In vitro demethylation experiment by 5-aza-dC
showed upregulation of ROBO1/DUTT1 and ROBO2 while the expression of the ncRNAs remained unchanged. Immunohistochemical analysis of ROBO1/DUTT1 and ROBO2 showed concordance with their mRNA expression and molecular alterations. Poor patients’ outcome was predicted in the cases
with alteration of ROBO1/DUTT1 along with tobacco addiction and nodal involvement. Our data suggests (a) ROBO1/DUTT1 and the ncRNAs are transcribed from different promoters, and (b) inactivation of ROBO1/DUTT1 could be used as molecular signature for early detection and prognosis of the head and neck cancer.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
4.
Regarding mutations of PROP1 (Prophet of POU1F1) gene significantly associating with combined pituitary hormone deficiency (CPHD) in human patients and animals, PROP1 gene is a novel important candidate gene for detecting genetic variation and growth, reproduction, metabolism traits selection
and breeding. The aim of this study was to detect PROP1 gene mutation of the exon 1–3 and its association with wool traits in 345 Chinese Merino sheep. In this study, on the basis
of PCR-SSCP and DNA sequencing methods, ten novel SNPs within the sheep PROP1 gene, namely, AY533708: g.45A > G resulting in Glu15Glu, g.1198A > G, g.1341G > C resulting in Arg63Ser, g.1389G > A resulting
in Ala79Ala, g.1402C > T resulting in Leu84Leu, g.1424A > G resulting in Asn91Ser, g.1522C > T, g.1556A > T, g.1574T > C,
g.2430C > G were reported. In addition, association analysis showed that three genotypes of P4 fragment were significantly
associated with fiber diameter in the analyzed population (P = 0.044). These results strongly suggested that polymorphisms of the PROP1 gene could be a useful molecular marker for sheep breeding and genetics through marker-assisted selection (MAS). 相似文献
5.
A. Q. Hurtado A. T. Critchley A. Trespoey G. Bleicher-Lhonneur 《Journal of applied phycology》2008,20(5):551-555
Kappaphycus striatum var. sacol was grown in two separate studies: (1) at two stocking densities, and (2) at four different depths, each for three different
durations of culture (30, 45 and 60 days) in order to determine the growth rate of the seaweed and evaluate the carrageenan
content and its molecular weight. The results demonstrated that stocking density, duration of culture and depth significantly
(P < 0.01) affected the growth rate, carrageenan content and molecular weight of K. striatum var. sacol. Decreasing growth rate was observed at both stocking densities and at four depths as duration of culture increased. A lower
stocking density (500 g m−1line−1) showed a higher growth rate for the shortest durations, i.e. 30 days, as compared to those grown at a higher density. Likewise,
decreasing growth rate was observed as depth increased, except at 50 cm after 60 days of culture. A 45-day culture period
produced the highest molecular weight at both stocking densities (500 g m−1line−1 = 1,079.5 ± 31.8 kDa, 1,000 g m−1line−1 = 1,167 ± 270.6 kDa). ‘Sacol’ grown for 30 days at 50 cm (1,178 kDa) to 100 cm (1,200 kDa) depth showed the highest values
of molecular weight of carrageenan extracted. The results suggested that K. striatum var. sacol is best grown at a stocking density of 500 g m−1line−1, at a depth of 50–100 cm, and for a duration of 30 days in order to provide the highest growth rate, carrageenan content
and molecular weight. 相似文献
6.
7.
Both the CTNNBL1 (catenin, β-like1) and DGAT2 (diacylglycerol acyltransferase2) genes play important roles in adipose metabolism. In this study, we cloned these two genes
in pigs. Semi-quantitative RT-PCR results showed that both genes were extensively expressed, and CTNNBL1 was at a high level in the heart and spleen, while DGAT2 was most abundant in the liver. In CTNNBL1, one synonymous mutation c.555C>T was identified in the coding region, and association analysis showed that different genotypes
of CTNNBL1 were significantly associated with backfat at the shoulder and backfat at the rump (P < 0.05). In 3′-UTR of DGAT2, an A/G variation was detected by the Bcn I PCR-RFLP method, and different genotypes were significantly associated with backfat between the 6th and 7th ribs (P < 0.05). The allele frequency was tested among 188 unrelated pigs from six breeds. The results showed that for CTNNBL1, the Chinese indigenous breeds had higher frequencies of the C allele whereas the western breed had higher frequency of the
T allele; and for DGAT2, allele A or G were distributed with no obvious difference in allele frequency. IMpRH was employed to localize these two
genes, and CTNNBL1 was assigned to SSC17q21-23 and DGAT2 was assigned to SSC9p23-p24. The results suggest that the porcine CTNNBL1 and DGAT2 genes affect porcine fat deposition and further investigation will be necessary to illustrate the underlying mechanisms. 相似文献
8.
Jérôme Dumur Gérard Branlard Anne-Marie Tanguy Mireille Dardevet Olivier Coriton Virginie Huteau Jocelyne Lemoine Joseph Jahier 《Planta》2009,231(1):57-65
In an attempt to improve the bread-making quality within hexaploid wheat by elaborating novel high-molecular weight glutenin
subunits (HMW-GS) combinations useful in wheat-breeding programmes, a 1A chromosome fragment carrying the Glu-A1 locus encoding the subunit Ax2*, was translocated to the long arm of chromosome 1D. The partially isohomoeoallelic line,
designated RR239, had a meiotic behaviour as regular as cv. Courtot. It was characterised using genomic in situ hybridization
and microsatellite markers as well as biochemical and proteomic approaches. The translocated 1D chromosome had an interstitial
1AL segment representing in average 30% of the recombinant arm length that was confirmed by molecular analysis. The genetic
length of the removed segment in chromosome 1DL was estimated to be at least 51 cM, and that of the interstitial 1AL translocation
to be at least 33 cM. Proteome analysis performed on total endosperm proteins revealed variation in amounts, 8 spots and 1
spot being up- and downregulated, respectively. Quantitative variations in HMW-GS were observed for the Glu-A1 (Ax2*) and Glu-B1 (Bx7 + By8) loci in response to duplication of the Glu-A1 locus. 相似文献
9.
To find the influence of genetic polymorphisms of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1) on hematological parameters in smoker and non-smoker subjects, the present study was done. This cross-sectional study was
conducted on 97 healthy males (24 smokers, 73 non-smokers). The genotypes were determined using a polymerase chain reaction
based method. In non-smokers, there was no statistically association between number of active genes and the study parameters.
However, in smokers, RBC count was significantly decreased in null genotypes of GSTT1 (t = 3.021, df = 22, P = 0.006) and GSTM1 (t = 2.141, df = 22, P = 0.044). Also, in smokers, RBC count significantly decreased in persons having GSTM1 and GSTT1 null genotypes in comparison with subjects having two active genes (F = 5.554; df = 2, 21; P = 0.012). Because elevated RBC count correlate well with risk of coronary heart disease, it might be concluded that GSTM1 and GSTT1 null genotypes have protective role(s) for developing coronary heart disease. 相似文献
10.
Sfar S Abid A Mahfoudh W Ouragini H Ouechtati F Abdelhak S Chouchane L 《Molecular biology reports》2009,36(4):661-667
Hereditary multiple exostoses (HME) is an autosomal dominant orthopaedic disorder most frequently caused by mutations in the
EXT1 gene. The aim of the present study is to determine the underlying molecular defect of HME in two multigenerational Tunisian
families with 21 affected members and to examine the degree of intrafamilial variability. Linkage analysis was performed using
three microsatellite markers encompassing the EXT1 locus and mutation screening was carried out by direct sequencing. In family 1, evidence for linkage to EXT1 was obtained on the basis of a maximum LOD score of 4.26 at θ = 0.00 with D8S1694 marker. Sequencing of the EXT1 revealed a heterozygous G > T transversion (c.1019G>T) in exon 2, leading to a missense mutation at the codon 340 (p.Arg340Leu).
In family 2 we identified a novel heterozygous 1 bp deletion in the exon 1 (c.529_531delA) leading to a premature codon stop
and truncated EXT1 protein expression (p.Lys177LysfsX15). This mutation was associated with the evidence of an intrafamilial
clinical variability and considered to be a novel disease-causing mutation in the EXT1 gene. These findings provide additional support for the involvement of EXT1 gene in the HME disease. 相似文献
11.
Díaz-Barrera A Soto E Altamirano C 《Journal of industrial microbiology & biotechnology》2012,39(4):613-621
Alginates are polysaccharides that are used as thickening agents, stabilizers, and emulsifiers in various industries. These
biopolymers are produced by fermentation with a limited understanding of the processes occurring at the cellular level. The
objective of this study was to evaluate the effects of agitation rate and inlet sucrose concentrations (ISC) on alginate production
and the expression of the genes encoding for alginate-lyases (algL) and the catalytic subunit of the alginate polymerase complex (alg8) in chemostat cultures of Azotobacter vinelandii ATCC 9046. Increased alginate production (2.4 g l−1) and a higher specific alginate production rate (0.1 g g−1 h−1) were obtained at an ISC of 15 g l−1. Carbon recovery of about 100% was obtained at an ISC of 10 g l−1, whereas it was close to 50% at higher ISCs, suggesting that cells growing at lower sucrose feed rates utilize the carbon
source more efficiently. In each of the steady states evaluated, an increase in algL gene expression was not related to a decrease in alginate molecular weight, whereas an increase in the molecular weight of
alginate was linked to higher alg8 gene expression, demonstrating a relationship between the alg8 gene and alginate polymerization in A. vinelandii for the first time. The results obtained provide a possible explanation for changes observed in the molecular weight of alginate
synthesized and this knowledge can be used to build a recombinant strain able to overexpress alg8 in order to produce alginates with higher molecular weights. 相似文献
12.
Background
Reversible protein phosphorylation is relatively unexplored in the intracellular protozoa of the Apicomplexa family that includes the genus Plasmodium, to which belong the causative agents of malaria. Members of the PP1 family represent the most highly conserved protein phosphatase sequences in phylogeny and play essential regulatory roles in various cellular pathways. Previous evidence suggested a PP1-like activity in Plasmodium falciparum, not yet identified at the molecular level. 相似文献13.
A non-characterized gene, previously proposed as the d-tagatose-3-epimerase gene from Rhodobacter sphaeroides, was cloned and expressed in Escherichia coli. Its molecular mass was estimated to be 64 kDa with two identical subunits. The enzyme specificity was highest with d-fructose and decreased for other substrates in the order: d-tagatose, d-psicose, d-ribulose, d-xylulose and d-sorbose. Its activity was maximal at pH 9 and 40°C while being enhanced by Mn2+. At pH 9 and 40°C, 118 g d-psicose l−1 was produced from 700 g d-fructose l−1 after 3 h.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
14.
15.
Calcium channel, voltage-dependent, alpha-2/delta subunit 1 (CACNA2D1) gene encodes a member of the alpha-2/delta subunit family, proteins are accessory molecules associated with voltage-gated
calcium channels, and increase the density at the plasma membrane of calcium channels activated by high voltage. The main
objective of the present study was to identify polymorphisms of CACNA2D1 gene, and to analyze associations between these polymorphisms and carcass and meat quality traits in cattle. In this study,
through PCR-SSCP and DNA sequencing methods, two new allelic variant corresponding to the C → G and G → T mutations at positions
526740 and 537917 in the exon25 and exon35 of bovine CACNA2D1 gene, respectively, could be detected. SNP C526740G is a nonsynonymous mutation, resulting in a Cysteine (Cys) to Tryptophan
(Trp) amino acid replacement and SNP G537917T resulting in an Aspartic (Asp) to Tyrosine (Tyr) amino acid replacement. The
gene-specific SNP markers association analysis was investigated. The C526740G was significantly associated with Meat color
(MC) (P = 0.0297) and Backfat thickness (BF) (P < 0.001). The G537917A indicated significant association with Dressing percentage (DP) (P = 0.0485). No significant association, however, was detected between any of the marker genotype and other traits measured
in this study. Results from this study initially suggested that CACNA2D1 gene is one of the potential candidate genes influencing carcass and meat quality traits and gene-specific SNPs may be a
useful marker for MAS programs in cattle breeding. 相似文献
16.
17.
PCR low ionic strength single-strand conformation polymorphism (PCR-LIS-SSCP) and DNA sequencing methods were used to analyze
the polymorphisms within the coding region of bovine ATP1A1 gene. A novel C/A mutation was identified at the nucleotide position 2789 of the ATP1A1 mRNA, but it was silent with respect to the amino acid sequence of the protein. The LIS-SSCP banding pattern could be divided
into three kinds of genotypes, named CC, CA, and AA. Also, the association of the novel SNP of ATP1A1 gene with heat tolerance traits was studied, we found that the individuals with genotype CC showed significantly higher heat resistance than those of genotype CA (P < 0.05). Further, the mRNA levels of ATP1A1 gene in lymphocytes of peripheral blood in dairy cows among various temperature groups and genotypes were analyzed by using
real-time RT-PCR. Results showed that the expression of ATP1A1 mRNA was highest in heat-stressed cows with CC genotype among the three genotypes (P < 0.01), and the ATP1A1 mRNA level at temperature 32.5°C was higher than that at optimal temperature 12.5°C in dairy cows (P < 0.01). Simultaneity, the plasma potassium (K+, mmol/l) and sodium (Na+, mmol/l) declined when the temperature dropped (P < 0.05). Our findings implied that the novel SNP here could be a potential genetic marker for anti-heat stress trait in dairy
cow breeding. 相似文献
18.
19.
A feather-degrading strain of Pseudomonas aeruginosa KS-1 was used in the present study. Its crude cell-free fermentation broth completely degraded chicken feather within 12 h,
in the absence of disulphide reductase activity. Keratinase from its extracellular broth was purified and characterized, assuming
that it would be a potential β-keratin-degrading enzyme with prospective applications in degradation of β-plaques of prions.
The keratinase was purified by using Q-Sepharose anion exchange chromatography and its molecular weight, as determined by
SDS–PAGE analysis, was 45 kDa. It was an alkaline, serine protease with pH and temperature optima of 9 and 60°C, respectively.
The enzyme was highly thermostable with a t
1/2 > 2 h at 80°C and had a very high K to C (keratinolytic to caseinolytic) ratio of 2.5. Besides feather keratin, it also hydrolyzed
a variety of other complex substrates including fibrin, gelatin and meat protein. Its activity on synthetic substrates revealed
that it efficiently cleaves them in the order phenylalanine > lysine > alanine > leucine p-nitroanilides. It also cleaved insulin B chain between Val12-Glu13, Ala14-Leu15, Gly20-Glu21 and Arg22-Gly23 residues. 相似文献
20.
Peeters AV Beckers S Verrijken A Mertens I Roevens P Peeters PJ Van Hul W Van Gaal LF 《Human genetics》2008,124(4):431-436
The sirtuin SIRT1 is an important regulator of energy metabolism through its impact on glucose and lipid metabolism and therefore
we tested the hypothesis that genetic variation in SIRT1 may have an effect on adiposity in a Belgian case/control association study. This study included 1,068 obese patients (BMI ≥ 30 kg/m2) from the outpatient obesity clinic and 313 lean controls (BMI between 18.5 and 25 kg/m2). Anthropometrics were assessed by classical methods and visceral (VFA), subcutaneous (SFA) and total abdominal (TFA) fat
areas were determined by a CT scan. The extent of linkage disequilibrium in SIRT1 allowed us to reduce the number of SNPs to two, sufficient to cover the entire gene. The two tagSNPs (rs7069102 and rs3818292)
were analyzed by LightSNiP assays in all subjects. Rs3818292 genotypes were similarly distributed in cases and controls, whereas
rs7069102 was different for the additive (P = 0.007) and dominant (P = 0.01) model. The variant C-allele of rs7069102 reduced obesity risk with an OR of 0.74 (P = 0.025; 95% CI 0.57–0.96) under a dominant model. In obese male subjects, this variant allele was associated with increased
waist circumference (P = 0.04), WHR (P = 0.02), TFA (P = 0.03) and VFA (P = 0.005) (dominant model; adjusted for age and BMI). Rs3818292 was related to VFA (P = 0.005; adjusted for age and BMI) in obese males while in obese women, no significant associations were detected. Our data
suggest that genetic variation in SIRT1 increases the risk for obesity, and that SIRT1 genotype correlates with visceral obesity parameters in obese men.
A. V. Peeters and S. Beckers have contributed equally to this work. 相似文献