PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “kmer”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

9 recordsLinked to original sources

Faithful representations with topographic maps.

Topographic map algorithms that are aimed at building "faithful representations" also yield maps that transfer the maximum amount of information available about the distribution from which they receive input. The weight density (magnification factor) of these maps is proportional to the input density, or the neurons of these maps have an equal probability to be active (equiprobabilistic map). As MSE minimization is not compatible with equiprobabilistic map formation in general, a number of heuristics have been devised in order to compensate for this discrepancy in competitive learning schemes, e.g. by adding a "conscience" to the neurons' firing behavior. However, rather than minimizing a modified MSE criterion, we introduce a new unsupervised competitive learning rule, called the kernel-based Maximum Entropy learning Rule (kMER), for topographic map formation, that optimizes an information-theoretic criterion directly. To each neuron a radially symmetric kernel is associated, with a given center and radius, and the two are updated in such a way that the (unconditional) information-theoretic entropy of the neurons' outputs is maximized. We review a number of competitive learning rules for building equiprobabilistic maps. As benchmark tests for the faithfulness of the representations, we consider two types of distributions and compare the performances of these rules and kMER, for batch and incremental learning. As a first example application, we consider non-parametric density estimation where the maps are used for generating "pilot" estimates in kernel-based density estimation. The second application we envisage for kMER is "on-line" adaptive filtering of speech signals, using Gabor functions as wavelet filters. The topographic feature maps that are developed in this way differ in several respects from those obtained with Kohonen's Adaptive-Subspace SOM algorithm.

Journal Article↗

Structure of coenzyme F(420) dependent methylenetetrahydromethanopterin reductase from two methanogenic archaea.

Coenzyme F(420)-dependent methylenetetrahydromethanopterin reductase (Mer) is an enzyme of the Cl metabolism in methanogenic and sulfate reducing archaea. It is composed of identical 35-40 kDa subunits and lacks a prosthetic group. The crystal structure of Mer from Methanopyrus kandleri (kMer) revealed in one crystal form a dimeric and in another a tetrameric oligomerisation state and that from Methanobacterium thermoautotrophicum (tMer) a dimeric state. Each monomer is primarily composed of a TIM-barrel fold enlarged by three insertion regions. Insertion regions 1 and 2 contribute to intersubunit interactions. Insertion regions 2 and 3 together with the C-terminal end of the TIM-barrel core form a cleft where the binding sites of coenzyme F(420) and methylene-tetrahydromethanopterin are postulated. Close to the coenzyme F(420)-binding site lies a rarely observed non-prolyl cis-peptide bond. It is surprising that Mer is structurally most similar to a bacterial FMN-dependent luciferase which contains a non-prolyl cis-peptide bond at the equivalent position. The structure of Mer is also related to that of NADP-dependent FAD-harbouring methylenetetrahydrofolate reductase (MetF). However, Mer and MetF do not show sequence similarities although they bind related substrates and catalyze an analogous reaction.

Adaptation, Physiological↗

Same Sex Chromosomes With Independent Origins in Haplochromine Cichlids.

Elucidating theories of sex chromosome evolution requires approaches that allow fine scale delimitations of sex-determining regions within a phylogenetic context. This can address whether shared sex chromosomes across related species are due to shared ancestry, or whether genetic sex-determining regions have repeatedly evolved. Haplochromine cichlids, as one of the most successful fish lineages on Earth, have been a focal study system of sex chromosome research, both because of their rapid rate of sex chromosome turnover and the repeated emergence of certain sex chromosomes across the lineage. Here, we newly describe sex chromosomes in members of the earliest branch of the modern haplochromines, the Tropheini, based on whole-genome sequencing data, using a combination of SNP- and kmers-based methods. We show that despite the repeated co-options of ancestral chromosomes LG5 and LG7 in these species, the origins of these sex chromosomes are independent. Investigation of gene functions, allele differences, and sex-biased gene expression within the discovered sex-linked regions provides no evidence that sexual antagonism has driven the repeated evolution of a region on LG5 that overlaps between four of these species. By comparing the sex-determining regions on LG5 and LG7 across haplochromines, we show that a common origin is unlikely, and that while sex chromosomes themselves may be shared between several Haplochromini, the sex-determining genes or mechanism likely differ. This study paves the way to explore newly emerging theories of sex chromosome evolution, such as the role of chromosomal fusion or recombination patterns across the genome.

Animals↗

Phenotype-genotype discordance in antimicrobial resistance profiles of Gram-negative uropathogens recovered from catheter-associated urinary tract infections in Egypt.

OBJECTIVES: Catheter-associated urinary tract infections (CAUTIs) are among the most common healthcare-associated infections in low- and middle-income countries (LMICs), but there are few resistome data available for relevant uropathogens. The goal of this study was to characterize the antimicrobial resistance (AMR) phenotypes and genotypes of a large collection of Gram-negative bacteria recovered from CAUTIs in a hospital in Mansoura, Egypt. METHODS: Phenotypic AMR profiles and whole-genome sequence data were generated for 132 isolates. Resistomes were predicted using ResFinder, CARD and AMRFinder. Similarity of uropathogen genomic data was determined using sourmash (kmer signatures). Escherichia coli genomic data were subject to a pangenome analysis using Panaroo. RESULTS: Sixty-seven E. coli (Phylogroup B2; 53.7%, 36/67), 14 Pseudomonas aeruginosa, 11 Klebsiella pneumoniae, 9 Proteus mirabilis, 8 Providencia spp., 5 Enterobacter hormaechei and 18 rare CAUTI-associated isolates were identified. Several (22/132) isolates were multidrug-resistant, while almost half (62/132) were extensively drug-resistant. Phenotype-genotype discordance was found to be an important consideration in resistome studies in Egypt, with a total concordance of 91% (1115/1225), 85.7% (1273/1485) and 80.5% (1196/1485) for ResFinder, CARD and AMRFinder, respectively. Pseudomonas, at the species level, exhibited the greatest discordance. At the antimicrobial level, meropenem was subject to greatest discordance. New AMR variants were found for Egypt for Pseudomonas (blaOXA-486, blaOXA-488, blaOXA-905, blaIMP-43, blaPDC-35, blaPDC-45, blaPDC-201) and E. coli (blaTEM-176, blaTEM-190). CONCLUSIONS: This study shows that there is phenotype-genotype discordance in AMR profiling among CAUTI isolates, highlighting the need for comprehensive approaches in resistome studies. We also show the genomic diversity of Gram-negative uropathogens contributing to disease burden in a little-studied LMIC setting.

Egypt↗

Kernel-Based Equiprobabilistic Topographic Map Formation.

We introduce a new unsupervised competitive learning rule, the kernel-based maximum entropy learning rule (kMER), which performs equiprobabilistic topographic map formation in regular, fixed-topology lattices, for use with nonparametric density estimation as well as nonparametric regression analysis. The receptive fields of the formal neurons are overlapping radially symmetric kernels, compatible with radial basis functions (RBFs); but unlike other learning schemes, the radii of these kernels do not have to be chosen in an ad hoc manner: the radii are adapted to the local input density, together with the weight vectors that define the kernel centers, so as to produce maps of which the neurons have an equal probability to be active (equiprobabilistic maps). Both an "online" and a "batch" version of the learning rule are introduced, which are applied to nonparametric density estimation and regression, respectively. The application envisaged is blind source separation (BSS) from nonlinear, noisy mixtures.

Journal Article↗

Mitochondrial DNA variation in Nicobarese Islanders.

The aboriginal populations living in the Nicobar Islands are hypothesized to be descendants of people who were part of early human dispersals into Southeast Asia. However, analyses of ethnographic histories, languages, morphometric data, and protein polymorphisms have not yet resolved which worldwide populations are most closely related to the Nicobarese. Thus, to explore the origins and affinities of the Nicobar Islanders, we analyzed mitochondrial DNA (mtDNA) hypervariable region 1 sequence data from 33 Nicobarese Islanders and compared their mtDNA haplotypes to those of neighboring East Asians, mainland and island Southeast Asians, Indians, Australian aborigines, Pacific Islanders, and Africans. Unique Nicobarese mtDNA haplotypes, including five Nicobarese mtDNA haplotypes linked to the COII/tRNA(Lys) 9-bp deletion, are most closely related to mtDNA haplotypes from mainland Southeast Asian Mon-Kmer-speaking populations (e.g., Cambodians). Thus, the dispersal of southern Chinese into mainland Southeast Asia may have included a westward expansion and colonization of the islands of the Andaman Sea.

Adult↗

MKMC enables reference-free transcriptomic analysis using k-mer representations.

Traditional RNA-seq analysis depends heavily on genome alignment and gene annotation, limiting its utility in non-model organisms and introducing biases that can obscure regulatory complexity. We present MKMC (Multi-sample Kmer Counter), a scalable, reference-free toolkit for RNA-seq analysis that leverages k-mer-based statistics to detect biological variation without requiring alignment. MKMC integrates fast k-mer counting, abundance matrix generation, normalization, dimensionality reduction, and differential analysis into a unified workflow. Across diverse datasets, MKMC recapitulates key biological signals-including sex differences in killifish liver-and matches alignment-based pipelines in differential expression analysis and transcriptomic age prediction. Notably, MKMC detects isoform-specific events missed by traditional methods, one of which we validated using in situ hybridization. These results reveal previously hidden isoform-level regulatory events that contribute to sex- and age-associated transcriptional programs. MKMC offers a robust, extensible alternative to alignment-based approaches, enabling transcriptomic discovery across both model and non-model systems. While we focus here on RNA-seq as a primary application, MKMC is broadly applicable to any k-mer-based analysis of next-generation sequencing data.

MKMC↗

[Cancer of the penis in Cambodia].

The prevalence of penis cancer in Cambodia is comparable with some Far-East and Latino-American countries. Circumcision performed as a religious observance among Jews or undergone as a regular practice among older Moslems children (the Islam Kmers in Cambodia) might provide an indirect protection against this kind of cancer. It indeed helps in ensuring proper personnal hygiene and in improving the detection, the treatment and the aftercare of all the mild lesions which possibly can pave the way to cancer. Out of of 253 observed cases recorded during a 10 years period (from 1960 to 1970), 164 were treated and followed up by the same surgical team from 1964 to 1970. They stress on those etiopathogenic factors and make possible a description of the reported "anatomoclinical" forms. The use of radiumtherapy either by contact or by means of needles is quite effective; however, when corpora cavernosa are involved, it will be often necessary to perform either a partial amputation or to an emasculation in case of entirely overspreading lesions. As metastases are of rare occurence, it is regarded as a "mild cancer"; however the sequelae due to the treatment are far from small importance. Through better personnal hygiene, detection, treatment, and surveillance of inflammations and benign tumors, with the renforcement of circumcision as a regular practice for every case of phimosis or chronic lesions, an effective prevention of this kind of cancer will expectedly be carried out in Cambodia and its prevalence will be reduced to a rate similar to that in European countries.

Cambodia↗

Di-, tri-, and tetranucleotide frequencies covary with lifespan and genome size across protostome invertebrates.

Animal lifespans span orders of magnitude, yet how genome sequence covaries with lifespan remains poorly characterized outside vertebrates. Although promoter CpG density has been linked to vertebrate longevity due to its gene-regulatory function through DNA methylation, it is unclear whether such patterns are promoter- and CpG-specific, or if they reflect broader sequence evolution. We curated maximum lifespan estimates for 466 protostome species spanning eight phyla with available genome assemblies and quantified mono-, di-, tri-, and tetranucleotide composition across whole genomes, intergenic regions, and six gene-associated regions (two upstream regions, exons, introns, and two downstream regions) defined using Benchmarking Universal Single-Copy Orthologs. Dinucleotide observed/expected ratios showed significant associations with lifespan and genome size in different ways. Lifespan-associated motifs were most pronounced in gene-associated non-coding regions, especially in introns and downstream regions, whereas genome-size effects were strongest in whole-genome and intergenic sequence. Tri- and tetranucleotide observed/expected ratios broadly recapitulated this regional organization. In contrast, GC content was not associated with lifespan across regions, indicating that the observed signals are not explained by mononucleotide composition but instead by how those nucleotides are arranged into short sequence motifs. These results suggest that lifespan and genome size show distinct but overlapping associations with regional sequence composition across invertebrate species and that lifespan-associated motif evolution extends beyond vertebrate promoter methylation architectures.

CpG density↗