GenesBacterial artificialChromosomalNucleotidesGeneticsGeneticStructure of chromosomeLociSequencesCopy inherited from each parentChromatinAbnormalTranslocations2001VariantsConformationSpansInterphaseMutationSegregationCytogeneticsInstabilityCopiesOccurPartialNuclearCancerResearchersChronicWorkings of human cellsDescribeInterplaySusceptibilityVivoAlgorithmStudyMeiosisStructuresSuppressFragmentsProteinBiologyMutationsGenome sequenceIntervalsProteinsCellsTelomericPathogenicGene regulation2019KilobasesEpigeneticOligonucleotideBaseKinaseOrganismsGenomicResearchFrequencyEstimatesMolecularLocusCharacterizationBiochemicalSyndrome
Genes27
- The subtelomeric repeats can rescue chromosome ends when telomerase fails, buffer subtelomerically located genes against transcriptional silencing and protect the genome from deleterious rearrangements due to ectopic recombination. (wikipedia.org)
- The genes of human chromosome 21 identified by the genome efforts were investigated, and the success rates for de novo cloning, protein production, and antibody generation were 85, 76, and 56%, respectively. (nih.gov)
- We resolve chromosomal sequences and infer sex chromosome-specific parasite genes and new potential drug targets. (nature.com)
- AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
- Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
- The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
- A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
- 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)
- We introduce chromosome conformation capture protocols for brain and compare higher-order chromatin structures at the chromosome 6p22.2-22.1 schizophrenia and bipolar disorder susceptibility locus, and additional neurodevelopmental risk genes, (DPP10, MCPH1) in adult prefrontal cortex and various cell culture systems, including neurons derived from reprogrammed skin cells. (nih.gov)
- Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
- Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
- Chromosome 12 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
- These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
- Because researchers use different approaches to genome annotation , their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
- So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
- The following is a partial list of genes on human chromosome 9. (wikipedia.org)
- Despite considerable ongoing effort toward the identification of chromosome regions affected in autism and the characterization of many potential gene candidates, only a few genes have been reproducibly shown to display specific mutations that segregate with autism, likely because of the complex polygenic nature of this syndrome. (neurotransmitter.net)
- The current coverage is, however, sufficient for the Human Genome Project to enter a new phase, in which the entire sequence can be analyzed to identify genes, regulatory regions and other genomic elements and structures. (biomedcentral.com)
- Public attention surrounding completion of the draft human sequence has fostered the impression that we are entering a 'post-genomic' era, and that description of genes and their functions is straightforward. (biomedcentral.com)
- Although some scientists expected to find at least 100,000 genes coding for proteins, only about 30,000-35,000 of such genes appear to be in the human genome. (learner.org)
- Epigenetic Regulation of microRNA Genes and Their Role in Human Melanomas. (kgi.edu)
- In a GA, potential hypotheses are made up of chromosomes, which are, in turn, made up of genes. (kdnuggets.com)
- In GAs, new sets of hypotheses are formed from previous sets of hypotheses, either by selecting some full chromosome (generally of high fitness) to move forward to a new generation unscathed (selection), by flipping a bit of an existing full chromosome and moving it forward to a new generation (mutation), or, most commonly, by breeding child chromosomes for the new generation by using an existing set's genes as parents. (kdnuggets.com)
- The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)
- These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
- In particular, HEG gene drive could be particularly effective if activity was restricted to the male germline to target genes required for female fertility/viability or engineered to destroy the X-chromosome by cutting at multiple X-specific sites [5] , [6] . (plos.org)
- Commonly reported N. fowleri virulence-associated genes were present in both core and accessory genomes, suggesting that N. fowleri's ability to infect human brain could be related to its unique species-specific genes (mostly of unknown function) and/or to differential gene expression. (cdc.gov)
Bacterial artificial2
- As of late 2000, the public human sequence was primarily based on approximately 24,000 accessioned bacterial artificial chromosome (BAC) clones covering 97% of the euchromatic portion of the genome [ 6 ]. (biomedcentral.com)
- One special type of plasmid used for genome sequencing is a bacterial artificial chromosome (BAC) , which can contain DNA fragments of about 150 kb. (learner.org)
Chromosomal3
- Telomere: Used to maintain chromosomal integrity by capping off the ends of the linear chromosomes. (wikipedia.org)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. (medlineplus.gov)
- Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
Nucleotides6
- One copy of the human genome contains about 3 billion nucleotides, which are distributed among 23 chromosomes. (genome.gov)
- The human genome, containing more than three billion nucleotides, is vast. (learner.org)
- In 2001 two rival teams jointly announced the completion of a draft sequence of the entire human genome, consisting of more than three billion nucleotides. (learner.org)
- The most common mutation is the deletion of 6 nucleotides at position 2281 and their replacement with 7 others, which occurs most commonly in Ashkenazi Jews. (medscape.com)
- It is composed of combinations of 3 billion pairs of four chemicals known as nucleotides: adenine and thymine, or guanine and cytosine ( Box 4.1 ). (nationalacademies.org)
- However, large-scale nucleotide sequencing directed at the human genome (3 billion nucleotides! (nationalacademies.org)
Genetics6
- It is here suggested that the word "cytogenomics" should rather be used with the goal to paraphrase a new field of research in genomics and diagnostics in human genetics, with an integrative and comprehensive view. (frontiersin.org)
- Human molecular genetics. (wustl.edu)
- American journal of human genetics. (wustl.edu)
- We predict that the exploration of three-dimensional genome architectures and function will open up new frontiers in human brain research and psychiatric genetics and provide novel insights into the epigenetic risk architectures of regulatory noncoding DNA. (nih.gov)
- Human Genetics & Genomic Advances , 4 , 100204. (otago.ac.nz)
- This approach allows genetic identification of individual micro-organisms in a complex community but also offers a glance into the fascinating world of microbial genetics, or metagenomics when including the host genome. (rmmj.org.il)
Genetic10
- The quest to understand the workings of human cells will not be over until we understand how this genetic blueprint is used to produce a particular set of proteins - the proteome - for each type of cell and how these proteins control the physiology of the cell. (learner.org)
- This study should establish the genetic basis for ob gene research in humans, thereby leading to the better understanding of the molecular mechanisms underlying the ob gene. (elsevierpure.com)
- Genetic algorithms, inspired by natural selection, are a commonly used approach to approximating solutions to optimization and search problems. (kdnuggets.com)
- It turns out that approximating such optimization problems with genetic algorithms is a sensible approach, resulting in reasonable approximations. (kdnuggets.com)
- To address such questions, my lab utilizes genetic and biochemical approaches to study centrosome biology in a simple model system, the small nematode worm, Caenorhabditis elegans . (nih.gov)
- Driver chromosomes are examples of 'selfish' genetic elements which suppress their competition during meiosis. (stackexchange.com)
- X chromosome drive (X drive) provides a clear example of selfish genetic behaviour. (stackexchange.com)
- Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
- Some Naegleria genome sequences are publicly available, but the genetic basis for Naegleria diversity and ability to thrive in diverse environments (including human brain) remains unclear. (cdc.gov)
- Understanding Genetic and Environmental Causes of Human Disease A recent article in the Archives of General Psychiatry by Hallmayer et al. (cdc.gov)
Structure of chromosome2
- Throughout the eukaryotic kingdom, the overall structure of chromosome ends is conserved and is characterized by the telomeric tract - a series of short G-rich repeats. (wikipedia.org)
- Other changes in the number or structure of chromosome 12 can have a variety of effects on health and development. (medlineplus.gov)
Loci6
- We also found that DNA double-strand breaks (DSBs) induce the approach of the homologous loci with γ-irradiation. (nature.com)
- Furthermore, AtRAD54, which performs an important role in the homologous recombination repair pathway, was involved in the pairing of homologous loci with γ-irradiation. (nature.com)
- These results suggest that homologous loci approach each other to repair DSBs and AtRAD54 mediates these phenomena. (nature.com)
- We found that AtRAD54, which performs an important role in the homologous recombination (HR) repair pathway, was involved in the approach of two homologous loci under γ-irradiation. (nature.com)
- Our results suggest that the transient reduction in inter-allelic distance and increase in pairing frequency of homologous loci after DSB result in partial chromatin reorganisation of interphase nuclei and that AtRAD54 contributes to the subcellular movement of homologous loci in the HR repair pathway. (nature.com)
- The approach is based on affinity reagents raised toward bioinformatics-designed protein epitope signature tags corresponding to unique regions of individual gene loci. (nih.gov)
Sequences12
- Eukaryotic chromosome fine structure refers to the structure of sequences for eukaryotic chromosomes. (wikipedia.org)
- Some sequences are required for a properly functioning chromosome: Centromere: Used during cell division as the attachment point for the spindle fibers. (wikipedia.org)
- Other sequences are used in replication or during interphase with the physical structure of the chromosome. (wikipedia.org)
- We report here the whole-genome sequences of the human-infective Trichuris trichiura and the mouse laboratory model Trichuris muris . (nature.com)
- Here we present high-quality genome sequences for T. trichiura and T. muris , the first duo of a major human STH and its mouse counterpart. (nature.com)
- Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. (cdc.gov)
- In contrast to reference-based approaches which relate sequences to a single genome, these data structures encode the mutual relationships between all the genomes represented. (biorxiv.org)
- Researchers create reference human genome sequences to help detect genomic variants in each sequenced human genome. (genome.gov)
- In the de Bruijn graph approach [ 8 - 16 ], the nodes of the graph are sub-strings of length k ( k- mers) and the edges link together k- mers that overlap by exactly k - 1 bp only if the k + 1 bp sequence obtained by joining the adjacent nodes is present in at least one of the sequences in the input. (biomedcentral.com)
- Dulbecco also argued that such a project should be "an international undertaking, because the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. (learner.org)
- The Molecular Inversion Probe assay (Parallele Biosciences, South San Francisco, Calif, USA) [ 6 ] uses probes that can be circularized and contain two sequences complementary to regions adjacent to SNPs in the DNA target in the first step of the genotyping reaction. (hindawi.com)
- Homing endonucleases differ functionally from the more well-known restriction endonucleases in that they possess longer recognition sequences of 18-22 base pairs in length. (plos.org)
Copy inherited from each parent2
- Most human cells have two copies of the human genome, with one copy inherited from each parent. (genome.gov)
- Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Chromatin3
- Here, we show that chromosome conformation capture, a widely used approach to study higher-order chromatin, is applicable to tissue collected postmortem, thereby informing about genome organization in the human brain. (nih.gov)
- My group employs an interdisciplinary, modular approach to dissect the chromatin networks responsible for establishing and maintaining the epigenetic signals. (cardiff.ac.uk)
- Recent studies have highlighted examples of chromatin regulation via RNA matchmaking, a term we use broadly here to describe intermolecular base-pairing interactions between one RNA molecule and an RNA or DNA match. (portlandpress.com)
Abnormal1
- Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
Translocations2
- Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
- Additional 3-way chromosome translocations associated with CML are also reviewed. (who.int)
20012
- As a result, males carrying a driving X chromosome (XSR) produce predominantly X‐bearing gametes and therefore sire almost exclusively daughters (Jaenike, 2001). (stackexchange.com)
- This approach is known as paper-trail genealogy, and the Internet has made that trail (in digital form) dramatically easier to follow: The National Archives put 50 million documents online in April 2003, and when Ellis Island posted its immigration files on the Web in April 2001, the site received eight million hits in the first 6 hours. (popsci.com)
Variants6
- Different variants of FISH can be used to retrieve information on genomes from (almost) base pair to whole genomic level, as besides only second and third generation sequencing approaches can do. (frontiersin.org)
- This review is about "molecular cytogenetics" including 1) the historical perspective of its development from cytogenetics, 2) technical aspects, 3) available probe sets, and 4) variants and applications of the basic fluorescence in situ hybridization (FISH) approach. (frontiersin.org)
- There are multiple types of variants in human genomes, ranging from small differences to large differences. (genome.gov)
- A very small subset of genomic variants contributes to human health and disease. (genome.gov)
- The differences among human genomes are called genomic variants. (genome.gov)
- In few newly diagnosed CML cases, complex cytogenetics variants of the Philadelphia (Ph) chromosome can be observed with the involvement of a third chromosome other than chromosome 9 & chromosome 22. (who.int)
Conformation1
- results from their study show the importance of the RAD51 nucleoprotein filament conformation for stimulating DNA pairing by BLM . (medscape.com)
Spans2
- Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
- Chromosome 9 spans about 150 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells . (wikipedia.org)
Interphase1
- However, vast portions of the human genome are subject to transcriptional and epigenetic regulation, and many noncoding regulatory DNA elements are thought to regulate the spatial organization of interphase chromosomes. (nih.gov)
Mutation1
- Conclusions Results suggested that the NGS approach based on AmpliSeq™ libraries and Ion Personal Genome Machine (PGM) sequencing is a highly efficient mutation detection method. (researchgate.net)
Segregation1
- As each pole of the spindle is organized by a centrosome, defects in centriole duplication can disrupt spindle bipolarity and chromosome segregation, leading to genome instability. (nih.gov)
Cytogenetics1
- Here the role of molecular cytogenetics in the context of yet available all other cytogenomic approaches is discussed. (frontiersin.org)
Instability1
- His current research work involve systems biology of Huntington's disease, chromosome instability, non-coding RNAs in cancers, and cancer drug resistance mechanisms. (kgi.edu)
Copies5
- Cells containing two copies of each chromosome are called "diploid. (genome.gov)
- Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
- In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
- Humans normally have two copies of this chromosome, as they normally do with all chromosomes. (wikipedia.org)
- The 172-bp 5'-flanking region of the human ob gene contained a TATA box-like sequence and several cis-acting regulatory elements (three copies of GC boxes, an AP-2-binding site, and a CCAAT/enhancer-binding protein-binding site). (elsevierpure.com)
Occur2
- Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
- Bailar, Eisenberg, and Mantel Test of Temporal Clustering Bailar, Eisenberg, and Mantel suggested a test of temporal clustering based on the number of pairs of cases in a given area that occur within a specified length of time d of each other (9). (cdc.gov)
Partial2
- The tragic extra copy - or partial copy - of Chromosome 21 is a troubling abnormality, presenting questions of both reason and belief for parents and lawmakers. (sltrib.com)
- Several different changes involving chromosome 12 have been reported, including an extra piece of the chromosome in each cell (partial trisomy 12), a missing segment of the chromosome in each cell (partial monosomy 12), and a circular structure called a ring chromosome 12. (medlineplus.gov)
Nuclear2
- Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
- The sequence of the human nuclear genome has been completed in draft form by an international public consortium consisting of 16 sequencing centers and associated computational facilities [ 1 ]. (biomedcentral.com)
Cancer6
- Changes in chromosome 12 have been identified in several types of cancer. (medlineplus.gov)
- In the past several years it has become apparent that defects in centrosomes and centrioles are linked to, and even causative of, a growing number of human diseases including cancer, microcephaly, and dwarfism. (nih.gov)
- Stabilization of quadruplex architecture by small molecules is thus emerging as a potential anticancer approach since it is thought to interfere with oncogenic expression and telomeric maintenance in cancer cells [ 11 - 13 ]. (hindawi.com)
- In their review " Natural and Adaptive Immunity to Cancer ", Vesely and colleagues draw from recent mouse models of cancer and human clinical data to describe how cells, effector molecules, and pathways of the immune system act to suppress and control tumor cells. (massgenomics.org)
- We performed whole genome sequencing (WGS) of 10 intracranial prostate cancer metastases, as well as WGS of primary prostate tumors from men who later developed metastatic disease (n = 6) and nonbrain prostate cancer metastases (n = 36). (bvsalud.org)
- As breast cancer treatment is multimodality approach Radiation therapy has significant impact on prevention of local recurrence. (who.int)
Researchers2
- With a total budget of 7.8 M€ and a funding support of 6 M€ from the EC's 7th Framework Programme for 5 years, SATURN was coordinated by Stephan Harbarth (University of Geneva) and brought together leading European researchers in antimicrobial resistance. (europa.eu)
- It is this side of molecular biology that is data intensive and is embodied in the Human Genome Project, a burgeoning scientific endeavor producing vast amounts of new information that researchers must select from to advance their investigations. (nationalacademies.org)
Chronic2
- Chronic Myeloid Leukemia (CML) is associated with translocation between chromosome 9 & chromosome 22, t(9;22)(q34;q11.2) and with the formation of BCR-ABL fusion gene. (who.int)
- Here in, we describe a 45 yrs old male, diagnosed as CML in Chronic phase with a complex translocation involving chromosomes 7, 9 & 22. (who.int)
Workings of human cells1
- A hefty effort, it's not the first time that scientists have tried to map the inner workings of human cells, though. (sciencealert.com)
Describe2
- As we will describe in more detail below, irrespective of the approach, computational representations of the resulting graphs require large amounts of memory, thereby requiring substantial computational resources (both memory and run time) to assemble large genomes (such as human). (biomedcentral.com)
- These results describe the aggressive molecular features underlying intracranial metastasis that may inform future diagnostic and treatment approaches. (bvsalud.org)
Interplay2
- The availability of these two important whipworm genomes and the integration of parasite and host data presented here will underpin future efforts to control these parasites and exploit their immunological interplay for human benefit. (nature.com)
- Frumkin J.P., Patra B.N., Sevold A., Ganguly K., Patel C., Yoon S., Schmid M.B., and Ray A. The interplay between chromosome stability and cell cycle control explored through gene-gene interaction and computational simulation. (kgi.edu)
Susceptibility2
- This study provides empirical support for the suggestion that the APOE locus is the major susceptibility gene for late-onset AD in the human genome, with an OR significantly greater than any other locus in the human genome. (psychiatrist.com)
- Photosensitivity in Bloom syndrome patients is a result of increased susceptibility to 313-nm light, approaching the ultraviolet (UV)-A range. (medscape.com)
Vivo1
- He subsequently conducted research at the Institute of Molecular Biology, University of Oregon, and the Department of Biology, Massachusetts Institute of Technology, during which periods he developed methods for precise in vivo chromosome engineering in yeast and in an experimental plant. (kgi.edu)
Algorithm1
- Fusing image data from a library called the Human Protein Atlas and existing maps of protein interactions, the machine learning algorithm was tasked with computing the distances between protein pairs. (sciencealert.com)
Study6
- The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
- The study was approved by the Royal Children's Hospital Human Research Ethics Committee. (cdc.gov)
- It also supports the feasibility of the ultra-high-density whole-genome association approach to the study of AD and other heritable phenotypes. (psychiatrist.com)
- 4 Today, microbial genomics study tools enable the sequencing of a bacterial chromosome composed of 4,000,000 base pairs in just one day. (rmmj.org.il)
- The SATURN project had as aim to study the impact of antibiotic exposure on AMR with a multidisciplinary approach that bridges molecular, epidemiological, clinical and pharmacological research. (europa.eu)
- We also observed that the fraction of targets undergoing homing was temperature-sensitive, falling nearly four-fold when the temperature was lowered to 18°C. Taken together, this study demonstrates how a few simple measures can lead to substantial improvements in the HEG-based gene drive strategy and reinforce the idea that the HEG approach may be widely applicable to a variety of insect control programs. (plos.org)
Meiosis1
- In fly males, the competition for the driver X during meiosis is the Y. The driver X in flies ensures all sperm are X. In your human females, competition for the driver X! (stackexchange.com)
Structures1
- The genome's DNA is packed into structures called chromosomes . (genome.gov)
Suppress1
- As there is no curative therapy for CRPC, new approaches are urgently required to suppress androgen signalling that prevent, delay or reverse progression to the castrate resistant state. (bvsalud.org)
Fragments2
- Here we show that an affinity proteomics strategy using affinity-purified antibodies raised against recombinant human protein fragments can be used for chromosome-wide protein profiling. (nih.gov)
- Then, known segments of the marked chromosomes (which can contain very small fragments of DNA) are cloned in plasmids . (learner.org)
Protein6
- Using human tissue arrays, a systematic profiling of protein expression and subcellular localization was undertaken for the putative gene products. (nih.gov)
- Less than 1.5% of the human genome encodes protein. (nih.gov)
- The majority of the human genome has the capacity to be transcribed and the majority of the non-protein-coding transcripts made by RNA Polymerase II are enriched in the nucleus. (portlandpress.com)
- Other proteins mapped included transmembrane transport systems that pump supplies into and out of cells, families of proteins that help organize bulky chromosomes, and protein complexes whose job it is to make, well, more proteins. (sciencealert.com)
- Other efforts to create reference maps of protein interactions have yielded similarly mind-boggling numbers and attempted to measure protein levels across tissues of the human body. (sciencealert.com)
- When a HEG is integrated into its recognition sequence in the genome, its protein product acts to cleave its cognate site on the homologous chromosome and gene conversion or homologous recombination can result in a new copy of the HEG being inserted. (plos.org)
Biology4
- Under this generic term, all chromosome-related studies should be summarized to introduce novel ideas and concepts in biology and medicine, thus having an integrative effect on the field. (frontiersin.org)
- T. muris is an established laboratory mouse model for human trichuriasis and shares with T. trichiura many aspects of its biology, including the specialized niche within the host. (nature.com)
- He currently teaches courses on molecular systems biology that includes molecular mechanisms of human diseases and pharmacogenomics. (kgi.edu)
- In an obvious nod to biology, a chromosome is a single hypothesis of which many make up a population. (kdnuggets.com)
Mutations2
- Over 25 mutations in SDHD and 25 mutations in SDHB have been detected in hereditary paraganglioma, including those reviewed by Baysal 1 and the more recent additions of multiple mutations in SDHB 4- 6 and SDHD . (bmj.com)
- 3, 10 However, analyses of SDHC in four series of patients with paraganglioma or pheochromocytoma 6, 8, 11, 12 yielded no definitive SDHC mutations. (bmj.com)
Genome sequence2
- The human pangenome is a more comprehensive framework that aims to account for genomic variation across human populations, thereby reducing biases that can come with the use of a single reference human genome sequence. (genome.gov)
- The capstone, of course, was the completion of the human genome sequence. (learner.org)
Intervals1
- One first constructs a map of the chromosomes, marking them at regular intervals of about 100 kilobases (kb). (learner.org)
Proteins1
- Inside every cell of the human body is a constellation of proteins, millions of them . (sciencealert.com)
Cells2
- miR-211 functions as a metabolic switch in human melanoma cells. (kgi.edu)
- Within the cell, the arrangement of microtubules is controlled by a variety of discreet microtubule-organizing centers (MTOCs), but in most cells, the dominant MTOC is the centrosome, a bipartite structure consisting of a central pair of barrel-shaped centrioles and a surrounding matrix of pericentriolar material (PCM). (nih.gov)
Telomeric1
- Altogether, this nucleoproteic assembly caps the chromosomes, protects their integrity, and is also deeply involved in the telomeric replication process [ 11 - 13 ]. (hindawi.com)
Pathogenic3
- Following the initial remarkable success of antibiotics, the emergence and spread of human pathogenic bacteria resistant to antibiotics has become a major phenomenon in the past fifty years. (europa.eu)
- The emergence and spread of human pathogenic bacteria resistant to antibiotics has become a major problem in the past fifty years. (europa.eu)
- Of the 47 Naegleria species described, N. fowleri is the only one being pathogenic to humans, causing a rare but fulminant primary amoebic meningoencephalitis. (cdc.gov)
Gene regulation1
- He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
20191
- March 6, 2019, 1:00 p.m. (sltrib.com)
Kilobases1
- The human ob gene spanned 20 kilobases (kb) and contained three exons separated by two introns. (elsevierpure.com)
Epigenetic1
Oligonucleotide1
- DNA isolation, genotyping of simple tandem repeat polymorphisms, PCR amplification and sequencing were performed using standard techniques 2 and all simple tandem repeat polymorphisms were amplified in the presence of 10% glycerol and 5% DMSO after labelling one oligonucleotide primer with 32 P and analysed on a 6% polyacrylamide gel. (bmj.com)
Base3
- For a given genome coverage c (the average number of reads covering a particular base in the genome) for every read, this approach, thus, requires storing approximately c overlaps, each of which requires storing a 4-8 byte pointer, as well as at least another 2 bytes of additional information about the overlap (coordinates within the reads, level of similarity, etc. (biomedcentral.com)
- If we take into account that each read must also record its sequence and possible quality value, we also require an additional 2-8 bits of information per base-pair per read. (biomedcentral.com)
- The first intron, 10.6 kb in size, occurred in the 5'-untranslated region, 29 base pair (bp) upstream of the ATG start codon. (elsevierpure.com)
Kinase1
- Among these is the master regulator known as polo-like kinase 4 (Plk-4) in humans and as ZYG-1 in C. elegans . (nih.gov)
Organisms2
- Most mammals are diploid , but some organisms have either one set or more than two sets of each chromosome. (genome.gov)
- The presence of micro-organisms in our environment and their significance in human health and disease have been known for centuries. (rmmj.org.il)
Genomic1
- The recent draft assembly of the human genome provides a unified basis for describing genomic structure and function. (biomedcentral.com)
Research1
- A Feature Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for future research directions and describes possible research applications. (mdpi.com)
Frequency2
- We investigated the roles of storage and parsing in the visual domain for the productive Dutch plural suffix -en.Two experiments are reported that show that storage occurs for high-frequency noun plurals. (mpi.nl)
- Only 2 primer pairs amplified anything from a specimen that was positive for both HRV and HEV, a problem for accurate estimation of the frequency of co-detections. (cdc.gov)
Estimates1
- These are some of the gene count estimates of human chromosome 9. (wikipedia.org)
Molecular1
- 2 Recently developed molecular microbiology techniques have enabled culture-independent analysis of complex microbial communities in the human body. (rmmj.org.il)
Locus3
- While the apolipoprotein E (APOE) e4 allele is a well-established risk factor for late-onset Alzheimer's disease (AD), initial genome scans using microsatellite markers in late-onset AD failed to identify this locus on chromosome 19. (psychiatrist.com)
- As predicted, ultra-high-density SNP genotyping, in contrast to traditional microsatellite-based genome screening approaches, precisely identified the APOE locus as having a significant association with late-onset AD. (psychiatrist.com)
- With artemisinin, the SNPs occurs at the Kelch 13-propeller gene locus on chromosome 13. (bvsalud.org)
Characterization1
- We report here the isolation and characterization of the human ob gene. (elsevierpure.com)
Biochemical1
- More recently we have begun a programme to test the effect of antioxidant compounds on biochemical markers of heart disease in both animal and human trials. (otago.ac.nz)
Syndrome2
- As an unabashed opponent of pro-choice, Herbert has openly talked about the right of imperfect humans to be born, noting that the Down Syndrome babies are not alone, and asserting that "none of us is born perfect. (sltrib.com)
- He rationalizes that there's a broad spectrum of human imperfections and that Down syndrome is just one of many. (sltrib.com)