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31.
N. GARCÍA-MAGALLANES F. LUQUE-ORTEGA E. M. AGUILAR-MEDINA R. RAMOS-PAYÁN C. GALAVIZ-HERNÁNDEZ J. G. ROMERO-QUINTANA L. DEL POZO-YAUNER H. RANGEL-VILLALOBOS E. ARÁMBULA-MERAZ 《Journal of genetics》2014,93(2):325-330
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme pathology in humans; it is X-linked inherited and causes neonatal hyperbilirubinaemia, chronic nonspherocytic haemolytic anaemia and drug-induced acute haemolytic anaemia. G6PD deficiency has scarcely been studied in the northern region of Mexico, which is important because of the genetic heterogeneity described in Mexican population. Therefore, samples from the northern Mexico were biochemically screened for G6PD-deficiency, and PCR-RFLPs, and DNA sequencing used to identify mutations in positive samples. The frequency of G6PD deficiency in the population was 0.95% (n = 1993); the mutations in 86% of these samples were G6PD A?202A/376G , G6PD A?376G/968C and G6PD Santamaria376G/542T . Contrary to previous reports, we demonstrated that G6PD deficiency distribution is relatively homogenous throughout the country (P = 0.48336), and the unique exception with high frequency of G6PD deficiency does not involve a coastal population (Chihuahua: 2.4%). Analysis of eight polymorphic sites showed only 10 haplotypes. In one individual we identified a new G6PD mutation named Mexico DF193A>G (rs199474830), which probably results in a damaging functional effect, according to PolyPhen analysis. Proteomic impact of the mutation is also described. 相似文献
32.
33.
Lucas Bleicher Ricardo Aparicio Fabio M Nunes Leandro Martinez Sandra M Gomes Dias Carolina Migliorini Ana Figueira Auxiliadora Morim Maria Santos Walter H Venturelli Rosangela da Silva Paulo Marcos Donate Francisco AR Neves Luiz A Simeoni John D Baxter Paul Webb Munir S Skaf Igor Polikarpov 《BMC structural biology》2008,8(1):1-13
Background
Multiple protein templates are commonly used in manual protein structure prediction. However, few automated algorithms of selecting and combining multiple templates are available.Results
Here we develop an effective multi-template combination algorithm for protein comparative modeling. The algorithm selects templates according to the similarity significance of the alignments between template and target proteins. It combines the whole template-target alignments whose similarity significance score is close to that of the top template-target alignment within a threshold, whereas it only takes alignment fragments from a less similar template-target alignment that align with a sizable uncovered region of the target. We compare the algorithm with the traditional method of using a single top template on the 45 comparative modeling targets (i.e. easy template-based modeling targets) used in the seventh edition of Critical Assessment of Techniques for Protein Structure Prediction (CASP7). The multi-template combination algorithm improves the GDT-TS scores of predicted models by 6.8% on average. The statistical analysis shows that the improvement is significant (p-value < 10-4). Compared with the ideal approach that always uses the best template, the multi-template approach yields only slightly better performance. During the CASP7 experiment, the preliminary implementation of the multi-template combination algorithm (FOLDpro) was ranked second among 67 servers in the category of high-accuracy structure prediction in terms of GDT-TS measure.Conclusion
We have developed a novel multi-template algorithm to improve protein comparative modeling. 相似文献34.
Horizontal transmission, vertical inactivation, and stochastic loss of mariner-like transposable elements 总被引:13,自引:5,他引:8
Horizontal transmission has been well documented as a major mechanism for
the dissemination of mariner-like elements (MLEs) among species. Less well
understood are mechanisms that limit vertical transmission of MLEs
resulting in the "spotty" or discontinuous distribution observed in closely
related species. In this article we present evidence that the genome of the
common ancestor of the melanogaster species subgroup of Drosophila
contained an MLE related to the mellifera (honey bee) subfamily. Horizontal
transmission, approximately 3-10 MYA, is strongly suggested by the
observation that the sequence of the MLE in Drosophila erecta is 97%
identical in nucleotide sequence with that of an MLE in the cat flea,
Ctenocephalides felis. The D. erecta MLE has a spotty distribution among
species in the melanogaster subgroup. The element has a high copy number in
D. erecta and D. orena, a moderate copy number in D. teissieri and D.
yakuba, and was apparently lost ("stochastic loss") in the lineage leading
to D. melanogaster, D. simulans, D. mauritiana, and D. sechellia. In D.
erecta, most copies are concentrated in the heterochromatin. Two copies
from D. erecta, denoted De12 and De19, were cloned and sequenced, and they
appear to be nonfunctional ("vertical inactivation"). It therefore appears
that the predominant mode of MLE evolution is vertical inactivation and
stochastic loss balanced against occasional reinvasion of lineages by
horizontal transmission.
相似文献
35.
Yeast-like fungi such as Saccharomyces cerevisiae exhibit a range of cell types differing in cell shape, gene expression and growth pattern. Signal transduction pathways mediate transitions between different cell types. Nutritional signals induce rounded yeast-form cells either to enter invasive growth as elongated filamentous cells or to arrest to prepare for stationary phase, conjugation, or meiosis. An emerging theme is that development critically depends upon differential regulation of vegetative functions, including cytoskeletal organization and cell cycle progression, as much as on the expression of cell type specific gene products. 相似文献
36.
Fine needle aspiration biopsies (FNA) of 47 Warthin's tumours confirmed by histology were re-evaluated for cytomorphological findings. The majority of aspirates (37/47) contained a typical background with proteinaceous substance and cell debris, along with cellular elements represented by oncocytic, lymphoid, and mast cells with degranulated cytoplasm. Uncommon cellular findings were true squamous cells (1/47), atypical cells with vacuoles (1/47), osteoclastic giant cells (1/47), epithelioid cells (1/47), mast cells with preserved granules in cytoplasm (3/47), and siderophages (4/47). Uncommon findings in the background were corpora amylacea-like structures and homogeneous bright red droplets. Squamous cells and atypical cells with vacuoles caused diagnostic difficulties in distinguishing a Warthin's tumour from a squamous cell or mucoepidermoid carcinoma. However, other unusual cellular and background findings were not worrying; therefore, they are merely regarded as a curiosity in the cytomorphological appearance of the tumour. 相似文献
37.
Water in the Avian Egg Overall Budget of Incubation 总被引:1,自引:0,他引:1
The loss of mass in eggs during incubation was examined andevidence is presented to show that this is essentially due toloss of water. The mean fraction of water lost by diffusionthroughout incubation is 0.150 ± 0.025 S D per gram ofegg and 0.162 ± 0.026 S D per gram of egg content for81 species. The water fraction of fresh eggs and of hatchingeggs was examined in 32 species divided according to maturityat hatching, and found to be very similar within each category(83% in altricial 83% in semi-altricial 78% in semi-precocial72% in precocial eggs). The 11% difference between the altricialand precocial categories is statistically significant. Duringincubation, dry matter is metabolized increasing the water fractionwhich is further increased by metabolic water production. Hence,water loss during incubation is mandatory if the relative watercontent of an egg at the end of incubation is to remain essentiallythe same as at the beginning. Equations are developed whichallow one to estimate the difference between diffusive waterloss and the total water loss in altricial and piecocial eggscaused by additional water loss during pipping and hatching. 相似文献
38.
Gas Exchange of the Avian Egg Time, Structure, and Function 总被引:1,自引:0,他引:1
Data are presented for oxygen consumption water loss duringincubation water vapor conductance of the shell and pore numberof avian eggs and the way in which these values relate not onlyto egg mass but also to incubation time. It is proposed thatall these functions are proportional to the product of egg massand rate of development where the latter is defined as the inverseof incubation time. These interrelationships account at theend of incubation for similar O2 and CO2 tensions in the airspace of eggs utilization of calories (0.5 kcal g1) andwater loss (15 g g1) 相似文献
39.
S Jahan S Singh A Srivastava V Kumar D Kumar A Pandey CS Rajpurohit AR Purohit VK Khanna AB Pant 《Molecular neurobiology》2018,55(4):2828-2839
40.
Goldstein DB; Zhivotovsky LA; Nayar K; Linares AR; Cavalli-Sforza LL; Feldman MW 《Molecular biology and evolution》1996,13(9):1213-1218
It has recently been suggested that observed levels of variation at
microsatellite loci can be used to infer patterns of selection in genomes
and to assess demographic history. In order to evaluate the feasibility of
these suggestions it is necessary to know something about how levels of
variation at microsatellite loci are expected to fluctuate due simply to
stochasticity in the processes of mutation and inheritance (genetic
sampling). Here we use recently derived properties of the stepwise mutation
model to place confidence intervals around the variance in repeat score
that is expected at mutation-drift equilibrium and outline a statistical
test for whether an observed value differs significantly from expectation.
We also develop confidence intervals for the time course of the buildup of
variation following a complete elimination of variation, such as might be
caused by a selective sweep or an extreme population bottleneck. We apply
these methods to the variation observed at human Y-specific
microsatellites. Although a number of authors have suggested the
possibility of a very recent sweep, our analyses suggest that a sweep or
extreme bottleneck is unlikely to have occurred anytime during the last
approximately 74,000 years. To generate this result we use a recently
estimated mutation rate for microsatellite loci of 5.6 x 10(-4) along with
the variation observed at autosomal microsatellite loci to estimate the
human effective population size. This estimate is 18,000, implying an
effective number of 4,500 Y chromosomes. One important general conclusion
to emerge from this study is that in order to reject mutation-drift
equilibrium at a set of linked microsatellite loci it is necessary to have
an unreasonably large number of loci unless the observed variance is far
below that expected at mutation-drift equilibrium.
相似文献