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1.
Livia G. R. P. Macêdo Milena Carvalho-Silva Gabriela K. Ferreira Júlia S. Vieira Natália Olegário Renata C. Gonçalves Francieli S. Vuolo Gustavo C. Ferreira Patrícia F. Schuck Felipe Dal-Pizzol Emilio L. Streck 《Neurochemical research》2013,38(12):2625-2630
Tyrosinemia type II, also known as Richner–Hanhart syndrome, is an autosomal recessive inborn error of metabolism caused by a deficiency of hepatic cytosolic tyrosine aminotransferase, and is associated with neurologic and development difficulties in numerous patients. Considering that the mechanisms underlying the neurological dysfunction in hypertyrosinemic patients are poorly known and that studies demonstrated that high concentrations of tyrosine provoke oxidative stress in vitro and in vivo in the cerebral cortex of rats, in the present study we investigate the oxidative stress parameters (enzymatic antioxidant defenses, thiobarbituric acid-reactive substances and protein carbonyl content) in cerebellum, hippocampus and striatum of 30-old-day rats after acute administration of l-tyrosine. Our results demonstrated that the acute administration of l-tyrosine increased the thiobarbituric acid reactive species levels in hippocampus and the carbonyl levels in cerebellum, hippocampus and striatum. In addition, acute administration of l-tyrosine significantly decreased superoxide dismutase activity in cerebellum, hippocampus and striatum, while catalase was increased in striatum. In conclusion, the oxidative stress may contribute, along with other mechanisms, to the neurological dysfunction characteristic of hypertyrosinemia and the administration of antioxidants may be considered as a potential adjuvant therapy for tyrosinemia, especially type II. 相似文献
2.
Fonseca Bárbara Medeiros Câmara Paulo Eduardo Aguiar Saraiva Ogaki Mayara Baptistucci Pinto Otávio Henrique Bezerra Lirio Juan Manuel Coria Silvia H. Vieira Rosemary Carvalho-Silva Micheline Amorim Eduardo Toledo Convey Peter Rosa Luiz Henrique 《Molecular biology reports》2022,49(1):179-188
Molecular Biology Reports - Vega Island is located off the eastern tip of the Antarctic Peninsula (Maritime Antarctica), in the Weddell Sea. In this study, we used metabarcoding to investigate... 相似文献
3.
Gutala R Carvalho-Silva DR Jin L Yngvadottir B Avadhanula V Nanne K Singh L Chakraborty R Tyler-Smith C 《Human genetics》2006,120(4):543-551
Arab forces conquered the Indus Delta region in 711 AD and, although a Muslim state was established there, their influence was barely felt in the rest of South Asia at that time. By the end of the tenth century, Central Asian Muslims moved into India from the northwest and expanded throughout the subcontinent. Muslim communities are now the largest minority religion in India, comprising more than 138 million people in a predominantly Hindu population of over one billion. It is unclear whether the Muslim expansion in India was a purely cultural phenomenon or had a genetic impact on the local population. To address this question from a male perspective, we typed eight microsatellite loci and 16 binary markers from the Y chromosome in 246 Muslims from Andhra Pradesh, and compared them to published data on 4,204 males from East Asia, Central Asia, other parts of India, Sri Lanka, Pakistan, Iran, the Middle East, Turkey, Egypt and Morocco. We find that the Muslim populations in general are genetically closer to their non-Muslim geographical neighbors than to other Muslims in India, and that there is a highly significant correlation between genetics and geography (but not religion). Our findings indicate that, despite the documented practice of marriage between Muslim men and Hindu women, Islamization in India did not involve large-scale replacement of Hindu Y chromosomes. The Muslim expansion in India was predominantly a cultural change and was not accompanied by significant gene flow, as seen in other places, such as China and Central Asia.Electronic supplementary material Supplementary material is available in the online version of this article at and is accessible for authorized users.Ramana Gutala and Denise R. Carvalho-Silva contributed equally to the article. 相似文献
4.
Thangaraj K Chaubey G Kivisild T Selvi Rani D Singh VK Ismail T Carvalho-Silva D Metspalu M Bhaskar LV Reddy AG Chandra S Pande V Prathap Naidu B Adarsh N Verma A Jyothi IA Mallick CB Shrivastava N Devasena R Kumari B Singh AK Dwivedi SK Singh S Rao G Gupta P Sonvane V Kumari K Basha A Bhargavi KR Lalremruata A Gupta AK Kaur G Reddy KK Rao AP Villems R Tyler-Smith C Singh L 《Human heredity》2008,66(1):1-9
We have analyzed 7,137 samples from 125 different caste, tribal and religious groups of India and 99 samples from three populations of Nepal for the length variation in the COII/tRNA(Lys) region of mtDNA. Samples showing length variation were subjected to detailed phylogenetic analysis based on HVS-I and informative coding region sequence variation. The overall frequencies of the 9-bp deletion and insertion variants in South Asia were 1.9 and 0.6%, respectively. We have also defined a novel deep-rooting haplogroup M43 and identified the rare haplogroup H14 in Indian populations carrying the 9-bp deletion by complete mtDNA sequencing. Moreover, we redefined haplogroup M6 and dissected it into two well-defined subclades. The presence of haplogroups F1 and B5a in Uttar Pradesh suggests minor maternal contribution from Southeast Asia to Northern India. The occurrence of haplogroup F1 in the Nepalese sample implies that Nepal might have served as a bridge for the flow of eastern lineages to India. The presence of R6 in the Nepalese, on the other hand, suggests that the gene flow between India and Nepal has been reciprocal. 相似文献
5.
Divergent Human Y-Chromosome Microsatellite Evolution Rates 总被引:5,自引:0,他引:5
Denise R. Carvalho-Silva Fabrício R. Santos Mara H. Hutz Francisco M. Salzano Sérgio D.J. Pena 《Journal of molecular evolution》1999,49(2):204-214
In this work, we analyze several characteristics influencing the low variability of the microsatellite DYS19 in the major founder Amerindian Y chromosome lineage containing the point mutation DYS199-T. Variation of DYS19 was compared with that of five other Y-linked tetranucleotide repeat loci (DYS389A, DYS389B, DYS390, DYS391, and DYS393) in the DYS199-T lineage. All the other microsatellites showed significantly higher levels of variability than DYS19 as measured by gene diversity and repeat number variance. Moreover, we had previously shown that DYS19 had high diversity in Brazilians and in several other populations worldwide. Thus, the slow DYS19 evolution in the DYS199-T lineage seems to be both locus and allele specific. To understand the slow DYS19 evolutionary rate, the microsatellite loci were compared according to their mapping on the Y chromosome and also on the basis
of structural aspects such as the base composition of the repeat motif and flanking regions and the degree of perfection and
size (repeat number) of the variable blocks. The only observed difference that might be related to the low DYS19 variability is its small average number of repeats, a value expected to be closer to the founder DYS19 allele in the DYS199-T lineage. These data were also compared to other derived Y lineages. The Tat-C lineage displayed a lower DYS19 variability correlated to a small average repeat number, while in the DYS234-G lineage, a high DYS19 variability was found associated to a larger average repeat number. This approach reveals that evolution of Y microsatellites
in lineages defined by slowly evolving markers, such as point mutations, can be greatly influenced by the size (number of
repeats of the variable block) of the founder allele in each microsatellite locus. Thus lineage-dating methods using microsatellite
variation should be practiced with great care.
Received: 7 November 1998 / Accepted: 9 April 1999 相似文献
6.
M.R.M.M.L. Scotti D.R. Carvalho-Silva M.A.T. Vargas M.C. Neves & J. Döbereiner 《Journal of applied microbiology》1997,83(5):552-560
The soybean Bradyrhizobium strain Semia 566 was introduced into soils of the Cerrados (Brazilian edaphic savannas) in the late 1960s. Then, nodule occupancy by this strain was not greater than 2%. Recently, this serogroup has been found in approximately 60% of nodules formed on soybeans cultivated in the Cerrados, replacing the strains 29W and Semia 587, the Brazilian commercial inoculant for soybean. Although some re-isolates of Semia 566, adapted to Cerrado soils, were more competitive than 29W under both field and aseptic conditions, they did not differ from the parental strain, based on their lipopolysaccharide (LPS) electrophoretic profile. The only exceptions were the isolates 4A-5 and CPAC-15 which presented an additional polysaccharidic band of low molecular weight or higher mobility. On the other hand, this same band may be induced and intensified in LPS extracted from competitive strains (29W, 220, 204, 370, 372, 516, 122 and CPAC-15) after bacterial contact with soybean roots for 6 or 12 h. In addition, a 29W Tn5 mutant with a phenotype of delayed nodulation showed a delayed induction of this polysaccharidic band. Conversely, the LPS of less competitive strains was not modified or showed a weak intensification of this band. As this band alteration was correlated with the concurrent elevation of dominance in nodules, it may be suggested that LPS plays a role in the competitive ability of rhizobia strains for nodulation. 相似文献
7.
Panatto JP Jeremias IC Ferreira GK Ramos AC Rochi N Gonçalves CL Daufenbach JF Jeremias GC Carvalho-Silva M Rezin GT Scaini G Streck EL 《Molecular and cellular biochemistry》2011,348(1-2):149-154
To explore the effect of LYRM1 over-expression on basal and insulin-stimulated glucose uptake in rat skeletal muscle cells, and to understand the underlying mechanisms, Rat myoblasts (L6) transfected with either an empty expression vector (pcDNA3.1Myc/His B) or a LYRM1 expression vector were differentiated into myotubes. Glucose uptake was determined by measuring 2-deoxy-D-[(3)H] glucose uptake into L6 myotubes. Western blotting was performed to assess the translocation of insulin-sensitive glucose transporter 4 (GLUT4). It was also used to measure the phosphorylation and total protein contents of insulin-signaling proteins, such as the insulin receptor (IR), insulin receptor substrate (IRS)-1, phosphatidylinositol-3-kinase (PI3K) p85, Akt, ERK1/2, P38, and JNK. LYRM1 over-expression in L6 myotubes reduced insulin-stimulated glucose uptake and impaired insulin-stimulated GLUT4 translocation. It also diminished insulin-stimulated tyrosine phosphorylation of IRS-1, PI3K (p85), and serine phosphorylation of Akt without affecting the phosphorylation of IR, ERK1/2, P38, and JNK. LYRM1 regulates the function of IRS-1, PI3K, and Akt, and decreases GLUT4 translocation and glucose uptake in response to insulin. These observations highlight the potential role of LYRM1 in glucose homeostasis and possibly in the pathophysiology of type 2 diabetes related to obesity. 相似文献
8.
9.
Genetic instability in EBV-transformed lymphoblastoid cell lines 总被引:2,自引:0,他引:2
Mohyuddin A Ayub Q Siddiqi S Carvalho-Silva DR Mazhar K Rehman S Firasat S Dar A Tyler-Smith C Mehdi SQ 《Biochimica et biophysica acta》2004,1670(1):81-83
Epstein Barr virus (EBV)-transformed lymphoblastoid cell lines are commonly used to provide an inexhaustible supply of DNA. We examined microsatellite instability in these cell lines in 35 individuals where DNA was available from the original blood samples and from cultured cell lines. Mutations were observed in 0.3% of the analyses, thus providing a quantitative measure of somatic mutation rate. 相似文献
10.
Câmara Paulo E. A. S. Eisenlohr Pedro V. Coelho Lívia C. Carvalho-Silva Micheline Amorim Eduardo T. Convey Peter Pinto Otavio H. B. Rosa Luiz Henrique 《Extremophiles : life under extreme conditions》2021,25(5-6):501-512
Extremophiles - Since the nineteenth century, a ring-forming disease attacking Antarctic mosses has been reported. However, to date, only the effects on the mosses themselves are known. In this... 相似文献