Estimating the proportions of different ancestries in admixed populations is very important in population genetics studies, and it is particularly important for detecting population substructure ...effects in case-control association studies. In this work, a set of 48 ancestry-informative insertion-deletion polymorphisms (INDELs) were selected with the goal of efficiently measuring the proportions of three different ancestries (sub-Saharan African, European, and Native American) in mixed populations. All selected markers can be easily analyzed via multiplex PCR and detected with standard capillary electrophoresis. A total of 593 unrelated individuals representative of European, African, and Native American parental populations were typed, as were 380 individuals from three Brazilian populations with known admixture patterns. As expected, the interethnic admixture estimates show that individuals from southern Brazil present an almost exclusively European ancestry; Afro-descendant communities in the Amazon region, apart from the major African contribution, present some degree of admixture with Europeans and Native Americans; and a sample from Belém, in the northeastern Amazon, shows a significant contribution of the three ethnic groups, although with a greater European proportion. In summary, a panel of ancestry-informative INDELs was optimized and proven to be a valuable tool for estimating individual and global ancestry proportions in admixed populations. The ability to accurately infer interethnic admixtures highlights the usefulness of this marker set for assessing population substructure in association studies, particularly those conducted in Brazilian and other Latin American populations sharing trihybrid ancestry patterns. Hum Mutat 31:184-190, 2010.
Following the recent isolation of monolayer CrI3 (ref. 1), many more two-dimensional van der Waals magnetic materials have been isolated2–12. Their incorporation in van der Waals heterostructures ...offers a new platform for spintronics5–9, proximity magnetism13 and quantum spin liquids14. A primary question in this field is how exfoliating crystals to the few-layer limit influences their magnetism. Studies of CrI3 have shown a different magnetic ground state for ultrathin exfoliated films1,5,6 compared with the bulk, but the origin is not yet understood. Here, we use electron tunnelling through few-layer crystals of the layered antiferromagnetic insulator CrCl3 to probe its magnetic order and find a tenfold enhancement of the interlayer exchange compared with bulk crystals. Moreover, temperature- and polarization-dependent Raman spectroscopy reveals that the crystallographic phase transition of bulk crystals does not occur in exfoliated films. This results in a different low-temperature stacking order and, we hypothesize, increased interlayer exchange. Our study provides insight into the connection between stacking order and interlayer interactions in two-dimensional magnets, which may be relevant for correlating stacking faults and mechanical deformations with the magnetic ground states of other more exotic layered magnets such as RuCl3 (ref. 14).
Atypical cyclins: the extended family portrait Quandt, Eva; Ribeiro, Mariana P. C.; Clotet, Josep
Cellular and molecular life sciences : CMLS,
01/2020, Letnik:
77, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Regulation of cell division is orchestrated by cyclins, which bind and activate their catalytic workmates, the cyclin-dependent kinases (CDKs). Cyclins have been traditionally defined by an ...oscillating (cyclic) pattern of expression and by the presence of a characteristic “cyclin box” that determines binding to the CDKs. Noteworthy, the Human Genome Sequence Project unveiled the existence of several other proteins containing the “cyclin box” domain. These potential “cyclins” have been named new, orphan or atypical, creating a conundrum in cyclins nomenclature. Moreover, although many years have passed after their discovery, the scarcity of information regarding these possible members of the family has hampered the establishment of criteria for systematization. Here, we discuss the criteria that define cyclins and we propose a classification and nomenclature update based on structural features, interactors, and phylogenetic information. The application of these criteria allows to systematically define, for the first time, the subfamily of atypical cyclins and enables the use of a common nomenclature for this extended family.
Introduction
Vitamin D acts on the immune system and lung response. Patients with cystic fibrosis (CF) may be deficient in this vitamin. The aims of the study were to evaluate vitamin D levels and ...severity of lung disease in infants and preschoolers diagnosed with CF, and to compare them to a group of children without pancreatic insufficiency (PI).
Methods
Patients with CF up to 4 years old were included, and compared to an age‐matched group of children without diagnosis of CF. CF group had medical records and High Resolution Thorax Computed Tomography (HRCCT) evaluated in order to verify the severity of lung disease. Information on demographic data, sun exposure habits, supplemental vitamin D therapy, and on the season at the time of vitamin D sampling were collected for both groups.
Results
This study included 45 patients in the CF group and 102 in the non‐CF group, with no differences in age (P = 0.327) between them. There was no association between vitamin D levels and markers of lung disease in the CF group. The non‐CF group had lower daily sun exposure (P = 0.034), and lower supplementation than the CF group (P < 0.001). Supplementation and seasonality were the determinant variables for vitamin D levels, which were lower for non‐supplemented children and for assessments during fall/winter.
Conclusion
There was no association between lung disease severity and vitamin D levels in CF group. Supplementation and seasonality were associated to higher vitamin levels.
In this review, the roles of room temperature ionic liquids (RTILs) and RTIL based solvent systems as proposed alternatives for conventional organic electrolyte solutions are described. Ionic liquids ...are introduced as well as the relevant properties for their use in electrochemistry (reduction of ohmic losses), such as diffusive molecular motion and ionic conductivity. We have restricted ourselves to provide a survey on the latest, most representative developments and progress made in the use of ionic liquids as electrolytes, in particular achieved by the cyclic voltammetry technique. Thus, the present review comprises literature from 2015 onward covering the different aspects of RTILs, from the knowledge of these media to the use of their properties for electrochemical processes. Out of the scope of this review are heat transfer applications, medical or biological applications, and multiphasic reactions.
AIM To evaluate the relation between 12 polymorphisms and the development of gastric cancer(GC) and colorectal cancer(CRC).METHODS In this study,we included 125 individuals with GC diagnosis,66 ...individuals with CRC diagnosis and 475 cancer-free individuals. All participants resided in the North region of Brazil and authorized the use of their samples. The 12 polymorphisms(in CASP8,CYP2 E1,CYP19 A1,IL1 A,IL4,MDM2,NFKB1,PAR1,TP53,TYMS,UGT1 A1 and XRCC1 genes) were genotyped in a single PCR for each individual,followed by fragment analysis. To avoid misinterpretation due to population substructure,we applied a previously developed set of 61 ancestryinformative markers that can also be genotyped by multiplex PCR. The statistical analyses were performed in Structure v.2.3.4,R environment and SPSS v.20.RESULTS After statistical analyses with the control of confounding factors,such as genetic ancestry,three markers(rs79071878 in IL4,rs3730485 in MDM2 and rs28362491 in NFKB1) were positively associated with the development of GC. One of these markers(rs28362491) and the marker in the UGT1 A1 gene(rs8175347) were positively associated with the development of CRC. Therefore,we investigated whether the joint presence of the deleterious alleles of each marker could affect the development of cancer and we obtained positive results in all analyses. Carriers of the combination of alleles RP1 + DEL(rs79071878 and rs28361491,respectively) are at 10-times greater risk of developing GC than carriers of other combinations. Similarly,carriers of the combination of DEL + RARE(rs283628 and rs8175347) are at about 12-times greater risk of developing CRC than carriers of other combinations.CONCLUSION These findings are important for the comprehension of gastric and CRC development,particularly in highly admixed populations,such as the Brazilian population.
Polyphosphate: popping up from oblivion Jiménez, Javier; Bru, Samuel; Ribeiro, Mariana P. C. ...
Current Genetics,
02/2017, Letnik:
63, Številka:
1
Journal Article, Book Review
Recenzirano
Phosphate is one of the essential elements supporting life. Cells accumulate phosphate in the form of a molecule called polyphosphate (polyP), which carries many functions in the physiology of cells ...that have not been wholly elucidated. Polyphosphate is present in all the types of cells from bacteria to mammals. It consists of a linear polymer constructed with anywhere from a few to hundreds of inorganic phosphate (Pi) molecules linked by phosphoanhydride bonds. Although polyP was described many years ago, difficulties in the study of its roles, most likely due to the many processes polyP is involved in and incomplete information obtained from multiple models and organisms relegate polyP into oblivion. But now, several interesting pieces of evidence are resurrecting the polyP as a key molecule in processes, such as protein folding, carbon metabolism, cell cycle progression, dNTP synthesis, and genomic stability. In this contribution, in addition to briefly summarize the polyP history and roles, we discuss its involvement in supporting cell cycle progression and genomic stability as well as the implications for the truthful replication of genomes.
Hepatic and pulmonary lesions are common in cetaceans, despite their poorly understood viral etiology. Herpesviruses (HV), adenoviruses (AdV) and hepatitis E virus (HEV) are emerging agents in ...cetaceans, associated with liver and/or pulmonary damage in mammals. We isolated and molecularly tested DNA for HV and AdV (n = 218 individuals; 187 liver and 108 lung samples) and RNA for HEV (n = 147 animals; 147 liver samples) from six cetacean families. All animals stranded or were bycaught in Brazil between 2001 and 2021. Positive-animals were analyzed by histopathology. Statistical analyses assessed if the prevalence of viral infection could be associated with the variables: species, family, habitat, region, sex, and age group. All samples were negative for AdV and HEV. Overall, 8.7% (19/218) of the cetaceans were HV-positive (4.8% 9/187 liver and 11.1% 12/108 lung), without HV-associated lesions. HV-prevalence was statistically significant higher in Pontoporiidae (19.2%, 10/52) when compared to Delphinidae (4.1%, 5/121), and in southeastern (17.1%, 13/76)-the most industrialized Brazilian region-when compared to the northeastern region (2.4%, 3/126). This study broadens the herpesvirus host range in cetaceans, including its description in pygmy sperm whales (Kogia breviceps) and humpback whales (Megaptera novaeangliae). Further studies must elucidate herpesvirus drivers in cetaceans.
This study aimed to develop a chitosan‐based hydrogel containing a mixture of flavonoids isolated from the leaves of Passiflora edulis Sims and to evaluate its stability, antioxidant properties, and ...wound healing effects on cutaneous lesions in diabetic rats. in vitro studies were carried out to evaluate the biocompatibility and flavonoid release from the chitosan hydrogel. in vivo wound healing studies were conducted on male Wistar rats, where the injured tissue was removed for histological analysis and determination of lipid peroxidation, superoxide dismutase activity, and glutathione peroxidase activity. From the histological analysis and macroscopic evaluation of the contraction of the wounds, it was observed that the formulation presented wound healing properties. In addition, treatment of the wound with the formulation stimulated the antioxidant defense system, suggesting a beneficial effect during the treatment of skin lesions in diabetic rats, especially in the first few days after wounding. According to these results, we can conclude that the chitosan hydrogel containing the flavonoid analyzed in this study has potential use as dressings in the treatment of wounds.
The growing worldwide cancer incidence, coupled to the increasing occurrence of multidrug cancer resistance, requires a continuous effort towards the identification of new leads for cancer ...management. In this work, two C-scorpionate complexes, FeCl
(
-Tpm) (
) and Co(
-Tpm
)
(NO
)
(
), (Tpm = hydrotris(pyrazol-1-yl)methane and Tpm
= 2,2,2-tris(pyrazol-1-yl)ethanol), were studied as potential scaffolds for future anticancer drug development. Their cytotoxicity and cell migration inhibitory activity were analyzed, and an untargeted metabolomics approach was employed to elucidate the biological processes significantly affected by these two complexes, using two tumoral cell lines (B16 and HCT116) and a non-tumoral cell line (HaCaT). While FeCl
(
-Tpm) did not display a significant cytotoxicity, Co(
-Tpm
)
(NO
)
was particularly cytotoxic against the HCT116 cell line. While Co(
-Tpm
)
(NO
)
significantly inhibited cell migration in all tested cell lines, FeCl
(
-Tpm) displayed a mixed activity. From a metabolomics perspective, exposure to FeCl
(
-Tpm) was associated with changes in various metabolic pathways involving tyrosine, where iron-dependent enzymes are particularly relevant. On the other hand, Co(
-Tpm
)
(NO
)
was associated with dysregulation of cell adhesion and membrane structural pathways, suggesting that its antiproliferative and anti-migration properties could be due to changes in the overall cellular adhesion mechanisms.
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