• Conclusions Results suggested that the NGS approach based on AmpliSeqâ„¢ libraries and Ion Personal Genome Machine (PGM) sequencing is a highly efficient mutation detection method. (researchgate.net)
  • Positional cloning of lymphopenia ( lyp ) in the BB rat revealed a frameshift mutation in Gimap5 , a member of at least seven related GTPase Immune Associated Protein genes located on rat chromosome 4q24. (hindawi.com)
  • Our data substantiates the Gimap5 frameshift mutation as the primary defect with only limited contributions to lymphopenia from the remaining Gimap genes. (hindawi.com)
  • Positional cloning of the lyp gene revealed a frame shift mutation in Gimap5 (previously known as Ian5 or Ian4L1 ). (hindawi.com)
  • Gimap5 was identified as the lyp gene in the BBDP rat through a frameshift mutation and premature truncation of the Gimap5 protein [ 2 , 6 ] and can be rescued in a P1-derived artificial chromosome (PAC) transgenic rat [ 7 ]. (hindawi.com)
  • Using whole-genome sequencing on drug-exposed cell lines, researchers saw high mutation rates in control cell lines intermittently treated with a compound called CX-5461. (genomeweb.com)
  • The most common mutation results in the replacement of the protein building block (amino acid) arginine with the amino acid tryptophan at position 88 in the septin-9 protein sequence, written as Arg88Trp or R88W. (medlineplus.gov)
  • To determine whether a mutation in the RP1-like protein 1 ( RP1L1 ) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD. (molvis.org)
  • Mutation screening of all coding regions and flanking intron sequences of the RP1L1 gene were performed with DNA sequencing analysis in this case with OMD. (molvis.org)
  • Interestingly, the Dac2j mutation occurs within a highly conserved element that may represent a regulatory sequence for a neighboring gene. (unige.ch)
  • Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
  • A simpler alternative is that, because eukaryotic genomes may have no means to prevent the proliferation of transposable elements, they are free to accumulate as long as they are not inserted into or near a gene in such a way that they would disrupt essential functions. (wikipedia.org)
  • Sequence analysis of the Daphnia pulex genome holds some surprises that could not have been anticipated from what was learned so far from other arthropod genomes. (biomedcentral.com)
  • Simple sequence repeats (SSRs) are highly variable features of all genomes. (biomedcentral.com)
  • Since the sequences of the human and other animal genomes have become available for study, scientists have been scouring reams of DNA for genetic clues to our brains' unique growth spurt - and to the biological changes that make us uniquely human. (technologyreview.com)
  • In the new paper, researchers at the University of California, Santa Cruz compared the human genome to the genomes of chimps, dogs, rats, mice, and chickens, searching for genetic sequences that were highly conserved during evolution and therefore functionally important. (technologyreview.com)
  • New evidence for genome-wide duplications at the origin of vertebrates using an amphioxus gene set and completed animal genomes. (mpg.de)
  • To further investigate the genomic diversity among this group and to help characterize lineages of the plague organism that have no sequenced members, we present here the genomes of two isolates of the "classical" antiqua biovar, strains Antiqua and Nepal516. (asm.org)
  • We compare all five currently sequenced Y. pestis genomes and the corresponding features in Yersinia pseudotuberculosis . (asm.org)
  • The FANTOM5 promoter atlas is a natural extension of earlier maps of active transcripts and promoters complementing the sequencing of mammalian genomes. (evolutionnews.org)
  • Diane Burgess and Michael Freeling sampled the genomes of a wide variety of plant species (e.g., rice, banana, cacao, the model plant Arabidopsis , and other flowering plants, both monocots and dicots) and found " numerous conserved non-coding sequences " (CNSs). (evolutionnews.org)
  • 1.5x coverage) demonstrates the power of sample sequencing for comparative analysis of mammalian genomes and the generation of species-specific resources. (jcvi.org)
  • For pathogenic bacteria sequences of genes, 16S rRNA, or entire genomes are popular choices of organizational structure. (news-medical.net)
  • The similarities and differences in the genes or genomes are then used to infer how closely related species are based on whether regions have changed, as well as how likely specific regions are to change. (news-medical.net)
  • The aims of this study were to describe the surface proteome of A. urinae and to analyse A. urinae genomes in search for genes encoding surface proteins. (lu.se)
  • Twenty-three additional A. urinae genomes were sequenced using Illumina HiSeq technology. (lu.se)
  • The 25 genomes had in median 13 genes encoding LPXTG-proteins (range 6-24). (lu.se)
  • For contact tracing or inquiries related to antibiotic resistance, whole genome sequencing (WGS) of bacterial isolates is offered. (folkhalsomyndigheten.se)
  • Whole genome sequencing can also provide insights into the specific genes or mutations that may be linked to antibiotic resistance. (folkhalsomyndigheten.se)
  • It is a platform and database for the automated analysis of whole genome sequencing data. (folkhalsomyndigheten.se)
  • The project will rely on published whole genome assemblies and gene annotations of various qualities. (lu.se)
  • We have extensive whole genome and RNA sequencing data taken from whole samples of flies at three life stages: larva, pupa and adult. (lu.se)
  • Indeed, FANTOM5's survey of 95 percent of protein-coding genes found near universal coverage by promoters, based on the first few bases of RNA transcripts. (evolutionnews.org)
  • The student will be responsible for improving the annotations, especially for the untranslated regions that lie up and downstream of protein coding genes. (lu.se)
  • In epidemiological contact tracing, this technology enables the mapping of infection spread and identification of sources of infection through the comparison of genetic sequences. (folkhalsomyndigheten.se)
  • Transposable elements (TEs) are mobile genetic sequences that comprise around 50% of our genomic DNA. (lu.se)
  • The fact that the Gimap genes are located together in a tight cluster on RNO4 (and in conserved synteny with many other species), combined with their sequence similarities, suggests the possibility that the proteins carry out similar function. (hindawi.com)
  • Deeply conserved chordate noncoding sequences preserve genome synteny but do not drive gene duplicate retention. (mpg.de)
  • In addition, long-read sequencing of one representative XDR ST235 isolate identified an integron carrying multiple resistance genes (including bla VIM-2), with differences in gene composition and synteny from the P. aeruginosa class 1 integrons described previously. (who.int)
  • The complete sequences of 50 new cDNA clones which code for large proteins. (nih.gov)
  • Partial HA1 domain cDNA sequences from five 1918-19 cases. (cdc.gov)
  • The partial HA1 translation product for BREVIG18 is shown above its cDNA sequence. (cdc.gov)
  • cDNA and genomic clones corresponding to the human factor VIII-associated gene (F8A) were isolated from mouse cDNA and F8A-enriched genomic libraries. (wustl.edu)
  • Our aim was to clone and sequence the cDNA of the BB diabetes prone (DP) and diabetes resistant (DR) alleles of all seven Gimap genes in the congenic DR. lyp rat line with 2 Mb of BB DP DNA introgressed onto the DR genetic background. (hindawi.com)
  • Conserved non-coding sequences can be important sites of evolutionary divergence as mutations in these regions may alter the regulation of conserved genes, producing species-specific patterns of gene expression. (wikipedia.org)
  • Patterns of conserved introns between species of different kingdoms have been used to make inferences about intron density at different points in evolutionary history. (wikipedia.org)
  • To investigate the population source of this species, scanning entomological radar observations and insect mitochondrial cytochrome oxidase I (COI) genes were used in this study. (bioone.org)
  • Model species are useful because they lay the groundwork for work in crops that are often difficult to transform and study specific gene functions. (sciencedaily.com)
  • We further studied the collinearity between these genes and related genes of six other species. (biomedcentral.com)
  • The serine at position 1199 is well conserved among the RP1L1 family in other species. (molvis.org)
  • Method for rapid identification and differentiation of the species of the Mycobacterium chelonae complex based on 16S-23S rRNA gene internal transcribed spacer PCR-restriction analysis. (cdc.gov)
  • Sequencing of the approximately 250-bp-long ITS amplicons of the three MCC member species showed differences in 24 to 34 bases, thereby yielding variable deduced restriction maps. (cdc.gov)
  • ITS PCR-restriction analysis using the in silico-selected restriction enzyme MaeII or HphI differentiated the three MCC members from one another and from other RGM and SGM species without sequencing. (cdc.gov)
  • We have established an extensive genome instability gene catalog in yeast that provides a resource to identify cross-species, candidate human genes that are somatically mutated and could cause chromosome instability (CIN) in cancer. (ubc.ca)
  • The first steps usually involve aligning the sequences of the various species, helping to identify sequences that are conserved or have remained the same, and sequences that have changed. (news-medical.net)
  • For example, critical genes used for specific cell functions are less likely to change than unused sections of the genome, and therefore any changes in critical genes between two species are likely to indicate more distant relatedness. (news-medical.net)
  • This, in turn, also revealed that many genes present in the non-pathogenic species had been lost from the pathogenic species, presumably influencing their evolution. (news-medical.net)
  • Detailed studies of Leptospira proteins and genes that influence pathogenicity make more sense when placed in a phylogenetic context, such as one study showing how genes gained and lost by pathogenic and intermediately pathogenic species since their split from non-infectious species provide increased understanding of how bacterial pathogens change and adapt in response to their hosts. (news-medical.net)
  • 16S sequencing is performed to determine which bacterial species are present in a clinical sample or isolate. (folkhalsomyndigheten.se)
  • Basically, if miRNA repression is evolutionarily important for a gene, we expect the miRNA binding sites to be shared across closely related species. (lu.se)
  • The student will create a pipeline for identifying conserved miRNA binding sites across several sparrow species using TargetScan as a framework. (lu.se)
  • A conserved non-coding sequence (CNS) is a DNA sequence of noncoding DNA that is evolutionarily conserved. (wikipedia.org)
  • Genes that maintain genome structure are evolutionarily conserved and are often somatically mutated in cancer. (ubc.ca)
  • To identify candidate drug targets, we have been testing synthetic lethal interactions, predicted in yeast, using RNAi, gene knockouts, and mutants in both C. elegans and mammalian cell culture, to identify evolutionarily conserved SL gene pairs involving CIN genes somatically mutated in cancer. (ubc.ca)
  • This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
  • Gimap5 is a member of at least seven related GTPase Immune Associated Protein ( Gimap ) genes located within 150 Kilobases (Kb) on rat chromosome (RNO) 4 [ 2 , 3 ]. (hindawi.com)
  • Sex chromosome evolution is thought to involve suppression of recombination around the sex determination genes. (usda.gov)
  • We report a papaya primitive Y chromosome with a small male-specific region, the MSY, that is about 10% of the chromosome showing severe suppression of recombination and degeneration of DNA sequences. (usda.gov)
  • Although the gene sequences were well conserved among different strains, their chromosome structures differed drastically. (wellnessresources.com)
  • Instead of mutations occurring in individual genes, this yeast can mutate by reorganizing their chromosomes and make extra copies of large chromosome pieces. (wellnessresources.com)
  • The human RP1L1 gene is encoded in four exons that span 50 kb on chromosome 8p. (molvis.org)
  • Our functional studies of selected CIN genes in yeast have elucidated mechanistic insights into various aspects of the chromosome cycle, including sister chromatid cohesion, kinetochores, DNA replication and repair, and cell cycle checkpoints. (ubc.ca)
  • For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
  • We further show that the number of instances of these motifs is a strong predictor of the responsiveness of a gene to pathogen detection. (umassmed.edu)
  • Metagenomic sequencing is offered in cases where infection is suspected but other methods have failed to identify a pathogen. (folkhalsomyndigheten.se)
  • Loss of function analysis shows that knockdown of esrra impairs expression of genes including sox9, col2a1, sox5, sox6, runx2 and col10a1 thus induces abnormally formed cartilage in pharyngeal arches. (nature.com)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • If these regions perform an important regulatory function, the increase in 3'-UTR length over evolutionary time suggests that conserved UTRs contribute to organism complexity. (wikipedia.org)
  • This evolutionary comparison has helped to clarify the derived amino acid sequence in the human and strongly supports the hypothesis that the F8A gene encodes a protein. (wustl.edu)
  • Last year, Lahn's group identified two brain genes as being under recent evolutionary pressure. (technologyreview.com)
  • Evolutionary consequences associated with hybridization events have been studied at various levels such as chromosomal rearrangements, repetitive DNA sequence evolution, genome size change, and diploidization ( Hegarty and Hiscock, 2008 HEGARTY, M.J. and HISCOCK, S.J., 2008. (scielo.br)
  • RNA interference is an evolutionary conserved gene regulatory mechanism that can be used by introducing exogenous synthetic double-stranded RNAs, so called small interfering RNA (siRNA). (lu.se)
  • Regulatory motifs in UTRs often conserved in genes belonging to the same metabolic family could potentially be used to develop highly specific medicines that target RNA transcripts. (wikipedia.org)
  • This review aims to link recent molecular data, often translated into amino acid sequences and predicted three dimensional structural motifs, to known mechanical properties. (bioone.org)
  • The predicted structures of the Gimap proteins show common sequences and motifs, such as GTP-binding domains in the N-terminal half, but with differing C-terminal ends [ 2 , 3 ]. (hindawi.com)
  • Clustering of conserved accessible DNA sequences within enhancers identified shared sequence motifs (including motifs for known factors), as well as many with unknown function. (umassmed.edu)
  • The numbering of the nucleotide sequence is aligned to A/PR/8/1934 (GenBank accession no. (cdc.gov)
  • We describe a general approach to rapidly obtain the DNA sequence encoding the variable region of any immunoglobulin chain using the polymerase chain reaction and a mixture of upstream primers corresponding to the leader sequence, and one downstream primer designed from the conserved nucleotide sequence of the constant region. (lu.se)
  • Some of the most highly conserved noncoding regions are found in the untranslated regions (UTRs) at the 3' end of mature RNA transcripts, rather than in the introns. (wikipedia.org)
  • LINE-encoded reverse transcriptase is not highly sequence-specific. (wikipedia.org)
  • Like the human gene, the mouse F8A gene is highly expressed in a wide variety of tissues. (wustl.edu)
  • Differentiation and classification of phytoplasmas have been primarily based on the highly conserved 16Sr RNA gene. (usda.gov)
  • Through APA, a single gene containing multiple PAS can generate a considerable number of transcript isoforms, thereby producing a highly diversified transcriptome ( Tian and Manley, 2013 ). (frontiersin.org)
  • It is widely distributed and highly conserved in animals, plants, and microorganisms. (biomedcentral.com)
  • Mycobacterium genus-specific primers derived from highly conserved sequences in the ITS region and the flanking 16S rRNA gene were used. (cdc.gov)
  • This intronic deletion spans a highly conserved binding domain to which several developmentally important proteins bind. (upenn.edu)
  • We found that gene expression programs diverge among mildly induced genes, while being highly conserved for strongly induced genes. (umassmed.edu)
  • Current diagnostic PCR assays target a variety of SARS CoV-2 genes and the vast majority target sequences in regions of the SARS CoV-2 genome that are highly conserved. (who.int)
  • Highly conserved regions are less likely to mutate, therefore there is a high likelihood that the diagnostic test will remain accurate in the presence of variants. (who.int)
  • The 16S rRNA gene is highly conserved with certain variable regions. (folkhalsomyndigheten.se)
  • A helix initiation motif and a helix termination motif segment can be found at either end of the alpha-helical rod and are highly conserved in sequence between keratins. (medscape.com)
  • As with most other keratin disorders, most mutations in pachyonychia congenita occur in these highly conserved helix boundary domains at the end of the rod domain. (medscape.com)
  • Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
  • The two variants exhibit different capability to form biofilms and to express genes involved in polysaccharide biosynthesis, flagellar synthesis, and the AI-2 quorum-sensing system [ 18 ]. (hindawi.com)
  • Our research involves a direct path from identification and mechanistic studies of CIN genes in yeast, to mining sequence data for orthologs mutated in cancer, to interrogation of the function of somatic variants and finally, the identification of (1) therapeutic target genes defined by synthetic lethality and (2) small-molecule inhibitors of those targets. (ubc.ca)
  • Six different variants of asp genes were found (denoted asp1-6). (lu.se)
  • This gene encodes one of the mitochondrial translation elongation factors. (nih.gov)
  • The S gene is one of the structural genes of the virus which encodes for a protein that sits on the surface of the SARS CoV-2 virus. (who.int)
  • Identifying the gene in a model grass plant is also important because its function is likely conserved given the sequence similarity between grasses. (sciencedaily.com)
  • We reveal that repeated ecological and morphological diversification along a common environmental axis is associated with both genome-wide allele frequency shifts and a specific, larger effect, locus, associated with the gene edar . (biorxiv.org)
  • Haussler's group, on the other hand, did a genome-wide search for rapidly evolving sequences within the conserved regions of DNA. (technologyreview.com)
  • Genome-wide identification and expression analysis of the bZIP transcription factor family genes in response to abiotic stress in Nicotiana tabacum L. (biomedcentral.com)
  • In contrast, genome-wide comparative studies of steady-state systems showed that only a small fraction of active enhancers are conserved. (umassmed.edu)
  • Introns are stretches of sequence found mostly in eukaryotic organisms which interrupt the coding regions of genes, with basepair lengths varying across three orders of magnitude. (wikipedia.org)
  • The student will evaluate gene expression in relation to measures of genetic diversity, differentiation, and neutrality across the genome to evaluate whether the sequences or the flanking regions of genes with stage-specific expression demonstrate signs of selection. (lu.se)
  • Researchers tracked down a handful of previously unappreciated susceptibility genes using exome sequences for more than 244,000 European women with or without breast cancer. (genomeweb.com)
  • Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family. (nih.gov)
  • Sixty-eight candidate genes involved in drought tolerance were identified in the set of ILs. (frontiersin.org)
  • and although less conserved, plants also have polyadenylation signals: far upstream element (FUE), near upstream element (NUE) and the cleavage element (CE) ( Xing and Li, 2011 ). (frontiersin.org)
  • Detailed analysis of 500-bp upstream of all functional genes has revealed several conserved binding sites, general and B cell-specific, as well as key differences between families. (nih.gov)
  • Dac1j was shown to be associated with an insertion of an unspecified ETn-like mouse endogenous transposon upstream of the Fbxw4 gene. (unige.ch)
  • When conserved regulatory transposable elements are active in a genome, they can introduce new promoter regions, disrupt existing regulatory sites, or, if inserted into transcribed regions, alter splicing patterns. (wikipedia.org)
  • High frequencies of sequence duplications and transposable element insertions contributed to the degeneration of the MSY resulting in low gene density. (usda.gov)
  • Intron sequences may be conserved, often because they contain expression regulating elements that put functional constraints on their evolution. (wikipedia.org)
  • Genes are the "code" for building the biological elements that form an organism. (evolutionnews.org)
  • The mechanisms that regulate variable (V) gene selection during the development of the mouse IgH repertoire are not fully understood, due in part to the absence of the complete locus sequence. (nih.gov)
  • All isolates had either one or two of these asp-genes located in a conserved locus, designated Locus encoding Aerococcal Surface Proteins (LASP). (lu.se)
  • Results The amplicons covered approximately 97% of the target sequence. (researchgate.net)
  • RFLP analysis of amplicons obtained by group- or subgroup- specific rp gene-based primers is used for finer differentiation of phytoplasma strains within a given group or subgroup. (usda.gov)
  • The laboratory procedure is based on amplifying and sequencing four variable regions of the 16S rRNA gene with two amplicons. (folkhalsomyndigheten.se)
  • The procedure's high sequence depth allows for these amplicons to be analysed separetely so different bacteria from the same sample can be identified. (folkhalsomyndigheten.se)
  • The non-coding regions downstream of coding sequences (CDS) is usually termed terminators. (frontiersin.org)
  • Investigators used RNAi screening and CRISPR editing validation testing in fruit flies to untangle functional contributions for conserved proteins with unknown functions. (genomeweb.com)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • A recent study showed that transposons contribute at least 16% of the eutherian-specific CNSs, marking them as a "major creative force" in the evolution of gene regulation in mammals. (wikipedia.org)
  • A complex interaction between the cleavage and polyadenylation molecular complex and cis -elements determine the polyadenylation site, which may result in the choice of non-canonical sites, resulting in alternative polyadenylation events, involved in the regulation of more than 80% of the genes expressed in plants. (frontiersin.org)
  • Recent work by the international ENCODE (Encyclopedia of DNA Elements) Project (1, 2) suggested that a large percentage of non-coding DNA, which makes up an estimated 95% of the human genome, has a function in gene regulation. (evolutionnews.org)
  • It's also sad that these two students think that 98% of our genome might be devoted to regulation and non-coding genes. (blogspot.com)
  • Instead, both genetic conditions might lead to complex alterations of gene regulation mechanisms that would impair limb morphogenesis. (unige.ch)
  • It is suitable for large-scale sequencing of TRPV1 and functionally related genes. (researchgate.net)
  • A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution. (mpg.de)
  • However, this belief goes against the evolution theory, which suggests that useless sequences would be eliminated from the genome since their maintenance requires energy. (blogspot.com)
  • This suggests that not only does feeding on the wrong host plant have large fitness costs for these flies, but the genes that are expressed during this life stage are under strong selection. (lu.se)
  • In the late 20th century and the early 21st century, this junk DNA has been shown to not only contain important regulatory elements for transcription, but also sequences that encode various non-coding RNAs that have functions in many cellular mechanisms. (blogspot.com)
  • DNA transposons encode a transposase protein, which is flanked by inverted repeat sequences. (wikipedia.org)
  • The Wnt genes encode secreted glycoprotein ligands that regulate a wide range of developmental processes, including axis elongation and segmentation. (biomedcentral.com)
  • The linear sequence of the A, T, C, and G bases in what is called coding DNA determines the particular protein that a short segment of DNA, known as a gene, will encode. (evolutionnews.org)
  • Here we report such a method, based on the variable 16S-23S rRNA gene internal transcribed spacer (ITS) region. (cdc.gov)
  • Classification of phytoplasma strains can however, become more refined and specific if moderately conserved genes, such as the ribosomal protein gene (rp), are used as genetic markers. (usda.gov)
  • In contrast to metagenomic detection of unknown pathogens which sequences all available genetic material, 16S sequencing specifically targets the small ribosomal subunit. (folkhalsomyndigheten.se)
  • These sequences are of interest for their potential to regulate gene production. (wikipedia.org)
  • Although a small number of 3' regulatory regions have been identified and validated so far, many studies have shown that plant 3' regulatory regions have a higher potential to regulate gene expression in plants compared to widely used 3' regulatory regions, such as NOS and OCS from Agrobacterium tumefaciens and 35S from cauliflower mosaic virus. (frontiersin.org)
  • This chapter describes the methodology of detection, differentiation and classification of phytoplasma strains based on rp gene sequences. (usda.gov)
  • The rp-gene based classification not only readily resolved 16Sr subgroups within a given 16Sr group, but also provided finer differentiation of closely related phytoplasma strains. (usda.gov)
  • Gene expression analysis indicates that esrra is expressed in developing pharyngeal arches where genes necessary for cartilage development are also expressed. (nature.com)
  • Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. (nih.gov)
  • RFLP analysis of 16Sr RNA gene sequences has identified 31 16Sr RNA (16Sr) groups and more than 100 16Sr subgroups. (usda.gov)
  • Comparative expressed sequence tag analysis. (mpg.de)
  • Gene reduction analysis revealed that the gene deletion processes are under selective pressure, and many of the inactivations are probably related to the organism's interaction with its host environment. (asm.org)
  • The dog genome: survey sequencing and comparative analysis. (jcvi.org)
  • Sequence analysis revealed that all affected dogs share a homozygous deletion of 7.8 kb in the NHEJ1 gene. (upenn.edu)
  • 2018). Comparative and phylogenetic analysis of a novel family of Enterobacteriaceae- - associated genomic islands that share a conserved excision/integration module. (news-medical.net)
  • The result of of metagenomic sequencing is the outcome of a collaborative effort between bioinformaticians and clinical microbiologists, where the clinical interpretation confirms and complements the technical analysis. (folkhalsomyndigheten.se)
  • Sequence variations between different bacteria provide a unique identity, and the analysis of these sequence enables taxonomic placement. (folkhalsomyndigheten.se)
  • The work presented in this thesis focuses on the bioinformatic methods for a TE-centric analysis of next- and third-generation sequencing technologies. (lu.se)
  • Concerted evolution refers to the pattern in which copies of multigene families show high intraspecific sequence homogeneity but high interspecific sequence diversity. (biomedcentral.com)
  • Scientists have identified a gene that just might be the key to the unique evolution of the human brain. (technologyreview.com)
  • It brings us one step closer to the overall goal of understanding human brain evolution at the level of genes. (technologyreview.com)
  • They then looked for sequences within those conserved regions that had changed rapidly in humans, indicating that those changes were important for human's unique evolution. (technologyreview.com)
  • Since scientists don't yet know the function of the gene, it's difficult to predict its role in brain development or human evolution. (technologyreview.com)
  • Finding these rapidly evolving genes is a starting point to understanding human genetic evolution," says Lahn, "but it doesn't tell us how changes in the genetic sequence lead to changes in human biology. (technologyreview.com)
  • The gene is also distinct from previously identified genes that might play a role in brain evolution. (technologyreview.com)
  • The globin gene family of the cephalochordate amphioxus: implications for chordate globin evolution. (mpg.de)
  • Evolution of a core gene network for skeletogenesis in chordates. (mpg.de)
  • Their mutagenic potential and gene regulatory effect have shaped the evolution of transcriptional networks involved in development, pluripotency, and inflammation. (lu.se)
  • Important regulatory factors, TFs bind to the promoter regions of target genes and activate or inhibit their transcription. (biomedcentral.com)
  • Empirical evidence for this has come from several studies investigating mutational load in a small number of individual genes. (nih.gov)
  • We examined the changes in miRNA expression over the ontogeny of the German cockroach Blattella germanica , using 11 small RNA libraries prepared and sequenced in our laboratory, representing developmentally important stages. (biomedcentral.com)
  • While accumulation rates of nonsynonymous mutations differed between genes and hexapod groups, we found no effect of reproductive mode on the effectiveness of purifying selection acting at nonsynonymous and synonymous sites. (nih.gov)
  • Recently, genome sequences revealed that in addition to rpoS , an rpoS -like sigma factor was found in V. alginolyticus 12G01. (hindawi.com)
  • In addition, different variations of these genes are found in different regions of the world, while everyone tested so far seems to carry the same 18 variations in the rapidly evolving chunk of HAR1F . (technologyreview.com)
  • Scientists have found a plant gene that drives the growth of root hairs, the tiny structures that help plants find water and nutrients in the soil. (sciencedaily.com)
  • The study, published in the journal New Phytologist, found that the BUZZ gene adjusts root growth -- both the rate and lateral root initiation -- in response to the nitrate concentration in nearby soil. (sciencedaily.com)
  • Now that the researchers have found and validated the biological role of the BUZZ gene, they are delving deeper into this newly discovered mechanism. (sciencedaily.com)
  • To round out this conclusion of widespread function in coding genes, a study conducted at UC Berkeley found more evidence of function in non-coding regions of plants. (evolutionnews.org)
  • In this study, we found that NS1 protein inhibits IRF-3-dependent gene transcription in constitutively active IRF-3 overexpressing cells, demonstrating that NS1 directly targets IRF-3. (microbiologyresearch.org)
  • For example, phylogenetic studies on Enterobacteriaceae pathogens have found how antibiotic-resistant genes spread through the family, and that the origin of virulent genomic islands was in phytopathogenic bacteria, meaning pathogens that target plants. (news-medical.net)
  • The mutations in pachyonychia congenita are found in the genes encoding keratin 6A (KRT6A), keratin 16 (KRT16), keratin 6B (KRT6B), and keratin 17 (KRT17). (medscape.com)
  • Strong selection pressures experienced during one stage of development may differ from those experienced in other stages, and with consequences for the underlying patterns of gene expression. (lu.se)
  • Many non-coding sequences produce RNA molecules that regulate gene expression by turning them on and off. (evolutionnews.org)
  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (nature.com)
  • For pathogenic microorganisms, this is typically done by sequencing the genome or other genetic information. (news-medical.net)
  • Because microorganisms such as bacteria can undergo horizontal gene transfer, genes that are universally conserved across all bacteria are used as markers to ensure accuracy in the alignment. (news-medical.net)
  • Most well-characterized enhancers are deeply conserved. (umassmed.edu)
  • Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
  • The bZIP protein sequence contains 2 conserved bZIP domains with a total length of ~ 60-80 amino acids. (biomedcentral.com)
  • Boxed amino acids indicate potential glycosylation sites as predicted by the sequence ( 15 ). (cdc.gov)
  • The sequences of these clones revealed an intronless gene conding for 380 amino acids, with 85% identity the predicted human sequence. (wustl.edu)
  • Changes in the SEPTIN9 gene may alter the sequence of amino acids in certain septin-9 isoforms in ways that interfere with their function. (medlineplus.gov)
  • The second is a relatively poorly conserved leucine zipper region characterised by leucine in the last position of every seven amino acids, and hydrophobic residues at positions 3 and 4. (biomedcentral.com)
  • they can combine with the promoter regions of key genes in signaling pathways to regulate their transcription levels and, in turn, plant resistance to stress. (biomedcentral.com)
  • The 3' regulatory regions have a great diversity of cis -regulatory elements directly involved in polyadenylation, stability, transport and mRNA translation, essential to achieve the desired levels of gene expression. (frontiersin.org)
  • Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)
  • Although scientists don't yet know exactly how the gene functions in the brain, they do know that the sequence is entirely unique to humans and is expressed in the cortex - which is responsible for complex thought - during a key stage of brain development. (technologyreview.com)
  • More than 650 million base pairs (>25%) of dog sequence align uniquely to the human genome, including fragments of putative orthologs for 18,473 of 24,567 annotated human genes. (jcvi.org)
  • The Human Genome Project (HGP) was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings. (umassmed.edu)
  • Eukaryotes have a mechanism termed alternative polyadenylation (APA), which allows the selective use of PAS in genes containing multiple PAS. (frontiersin.org)
  • If a small gene's promoter is included in the transcribed portion of the gene, the stable transcript can be duplicated and reinserted into the genome multiple times. (wikipedia.org)
  • Polyadenylation is essential for the stability of the transcript, preventing the mRNA from being the target of posttranscriptional gene silencing (PTGS) via RNA-dependent RNA polymerase 6 (RDR6) in plants ( Luo and Chen, 2007 ). (frontiersin.org)