• A pair of chromosomes refers to the two homologous chromosomes in a diploid individual (one chromosome from each set for a given chromosome number ). (golifescience.com)
  • This model can be used in 2 colors for low vision students to indicate homologous chromosomes. (perkins.org)
  • In each of these cells, after DNA duplication, homologous chromosomes exchange genetic material during crossing over. (scienceinschool.org)
  • Homologous chromosomes line up at the primary egg cell's equator and are then fished apart by microtubules. (scienceinschool.org)
  • I think you nicely laid out the three most reasonable definitions of ploidy, but Dana also points out that the classical use of diploid (as with most eukaryotes) defies each of these definitions because it infers the acquisition of unique but homologous chromosomes from each parent. (asmblog.org)
  • Although imprinting accounts for a small proportion of mammalian genes they play an important role in embryogenesis particularly in the formation of visceral structures and the nervous system. (wikipedia.org)
  • 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 21 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
  • Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition. (medlineplus.gov)
  • The papers in the third group describe the results of experiments studying the influence of LSD on the genes, and its mutagenic effects. (druglibrary.net)
  • The applications of this technology are quite varied, from assembling chromosome-scale genomes, linking non-coding disease-associated risk variants to target genes, understanding the mechanisms of gene regulation in a wide variety of diseases, and detecting gene fusions in tumor samples that were missed by other technologies, to name a few. (arimagenomics.com)
  • Chromosomes carry genes with great precision and fidelity between cell cycles, and from one generation to the next. (aber.ac.uk)
  • It also shows how chromosomes provide the environment for the expression and recombination of genes, and how chromosomes underpin sex determination and the evolution of breeding systems. (aber.ac.uk)
  • Instead, genome biologists focused on mapping the locations of and, later, sequencing individual genes on each of the 23 pairs of chromosomes in each mammalian cell. (stanford.edu)
  • Chromosomes are made up of genes and regulatory regions - switches that determine when and where the genes turn on and off - linked arm in arm like the setup for the childhood game of Red Rover. (stanford.edu)
  • This lesson introduces students to the relationships between chromosomes, genes, and DNA molecules. (sciencebuddies.org)
  • Develop and use a model to describe why structural changes to genes (mutations) located on chromosomes may affect proteins and may result in harmful, beneficial, or neutral effects to the structure and function of the organism. (sciencebuddies.org)
  • Each chromosome harbors essential genes. (rupress.org)
  • The course comprises molecular biology of genes, proteins, multicomponent protein complexes, and other biomolecules that provide structure and perform the organism's functions. (lu.se)
  • Proteins active in mitochondrial structure and function originate both from mitochondrial genes and also from nuclear genes. (msdmanuals.com)
  • 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 contrast, in eukaryotes , all of the cell's chromosomes are stored inside a structure called the nucleus. (golifescience.com)
  • Ecology== Describe any interactions with other organisms (included eukaryotes), contributions to the environment, effect on environment, etc. (kenyon.edu)
  • Ability to discern the central role of the chromosome in the genetics and evolution of eukaryotes. (aber.ac.uk)
  • In eukaryotes, chromosomes are linear structures. (coursehero.com)
  • Dana Boyd pointed out that in prokaryotes the term refers to sets of identical chromosomes, unlike in eukaryotes, where each chromosome of a set is usually different. (asmblog.org)
  • With this term he emphasized that prokaryotic chromosome segregation differs fundamentally from that of eukaryotes in that it prevents the maintenance of genetically heterozygous lines, even in polyploid cells . (asmblog.org)
  • In eukaryotes, DNA replication is separated in time from chromosome segregation. (rupress.org)
  • In 2000, researchers working on the Human Genome Project announced that they had determined the sequence of base pairs that make up this chromosome. (medlineplus.gov)
  • Describe the size and content of the genome. (kenyon.edu)
  • Genus species'' ==Description and significance== Describe the appearance, habitat, etc. of the organism, and why it is important enough to have its genome sequenced. (kenyon.edu)
  • We performed whole-genome shotgun sequencing and assembly as described previously ( 10 ) ( Appendix ). (cdc.gov)
  • The 3D genome is organized at multiple levels into chromosome territories, compartments, domains including topologically associated domains (TADs), and looping structures. (arimagenomics.com)
  • Structure: the 3D structure of the Genome can be used to identify structural variants such as gene fusions as potential drivers of disease. (arimagenomics.com)
  • Chang describes the circles as vicious gangs that terrorize the chromosome-bound genome by ignoring all the understood rules of biology, making cancer therapies for some patients a game of whack-a-mole as tumors evolve drug resistance within days or weeks. (stanford.edu)
  • PCR-based mapping and genome analysis located TaABCC3.1 to the short arm of wheat chromosome 3B, but not to the FHB resistance QTL Fhb1. (usda.gov)
  • Working towards their goal of building synthetic versions of the microorganism's 16 chromosomes, the team has achieved the goal of constructing a yeast strain with a 30 percent synthetic genome. (xtalks.com)
  • The term merodiploid was coined to describe situations where two copies of a region of the bacterial genome are present in a single bacterium. (asmblog.org)
  • We describe high resolution, genome-wide dynamic chromatin interaction maps in human embryonic stem cells (hESC) as they differentiate into four distinct embryonic cell lineages. (nih.gov)
  • Little wonder, because the genome is a person's entire genetic code contained in chromosomes inside the nucleus of virtually every cell in the body. (bbc.co.uk)
  • Albert Levan, a researcher at Lund University, was the first to establish how many chromosomes there are in the human genome. (lu.se)
  • In the 1950s, Albert Levan and American Joe Hin Tjio improved the method, and in 1956 they established that the human genome is divided into 46 chromosomes, i.e. 23 pairs of chromosomes. (lu.se)
  • With the development of sequencing techniques, it is now possible to study the structure of the genome in detail, defined by the order of the nitrogenous bases (nucleotides) adenine, guanine, cytosine and thymine in the DNA. (lu.se)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 21. (medlineplus.gov)
  • It is now known that there are multiple levels of chromatin organization in the nucleus of cells, including chromosomal territories, compartments, domains, and looping structures that coordinate regulatory interactions. (arimagenomics.com)
  • If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe . (wikipedia.org)
  • Chromosomal alterations are also common and include loss of CDKN2A/B through chromosome 9 deletion in 50% to 60% of non-ETP T-ALL patients. (medscape.com)
  • [ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)
  • Unlike eukaryotic cells, prokaryotic cells have a simpler structure and lack a true nucleus. (proprofs.com)
  • Numerous levels of condensation and compaction must occur until whole chromosomes are organized in the nucleus to get all that DNA into the nucleus. (arimagenomics.com)
  • 3D genomics involves exploring the 3-dimensional organization of DNA in the nucleus to reveal insights into the genome's sequence, structure, and regulatory landscape. (arimagenomics.com)
  • Eukaryotic cells are larger than prokaryotic cells and have a "true" nucleus, membrane-bound organelles, and rod-shaped chromosomes. (coursehero.com)
  • The nuclear envelope is a double-membrane structure that constitutes the outermost portion of the nucleus. (coursehero.com)
  • Furthermore, chromosomes are structures within the nucleus that are made up of DNA, the genetic material. (coursehero.com)
  • Similarly, the large ribosomal RNA gene clusters that reside on different chromosomes manage to find each other in almost every cell nucleus to form another easily discernable nuclear entity, the nucleolus [ 27 - 29 ]. (biomedcentral.com)
  • Researchers in the School of Computer Science's Computational Biology Department have developed a tool that aims to help scientists gain a fuller and deeper understanding of the structure and function of a cell's nucleus. (cmu.edu)
  • The tool will make it easier to access, use and share data, and allow for simultaneous and synchronized visualization of complex datasets related to the structure and function of the nucleus - considered the brain of the cell. (cmu.edu)
  • Genomic data describes the makeup of the chromosomes inside a cell's nucleus and is typically represented as one- or two-dimensional data. (cmu.edu)
  • Imaging data and chromosome structure models, which show how chromosomes are folded and where they are located inside the nucleus, are three-dimensional in nature. (cmu.edu)
  • Researchers can get a more unbiased and complete view of how the cell nucleus is structured," Ma said. (cmu.edu)
  • Five of the seven new publications describes each of the new yeast chromosomes, with one paper offering an overview of the research and the final paper detailing the 3D structures of the DNA in the yeast's nucleus. (xtalks.com)
  • Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)
  • Chromosomes are elongated, coming from the nucleus (round, lower left). (lu.se)
  • 1. Describe the structure, function and evolution of eukaryotic chromosomes, and identify the factors governing chromosome stability and driving karyotype diversity. (aber.ac.uk)
  • Data in favour of the concept of dynamism indicate that evolution of eukaryotic chromosome has involved progressive complexity of chromosome structure on the one hand, and flexibility in its behaviour and structure, maintaining the basic genetic make up, on the other. (ias.ac.in)
  • During the division of somatic cells (mitosis) newly duplicated chromosomes (sister chromatids) separate and segregate to opposite daughter cells. (scienceblog.com)
  • Thus, the products of chromosome replication (sister chromatids) generated during S-phase must be identified over time until mitosis when sisters associate with the mitotic spindle and segregate away from each other into the newly forming daughter cells. (rupress.org)
  • The general structure of somatic chromosomes can be studied best at the metaphase and anaphase of mitosis. (golifescience.com)
  • Endomitotic replication of the chromosome, in place of normal mitosis, during differentiation is an example of dynamic behaviour, adapted to meet the need of uninterrupted transcription during differentiation without increasing the number of cells. (ias.ac.in)
  • The authors explain how a mutation in a eukaryotic diploid cell is maintained as a heterozygous cell line because during mitosis all pairs of sister chromosomes (chromatids) become aligned and separated together in a plane perpendicular to the division plane making that every daughter cell inherits the mutation. (asmblog.org)
  • It is well known that the products of chromosome replication are paired to ensure that the sisters segregate away from each other during mitosis. (rupress.org)
  • However, in 2004, experimental manipulation by Japanese researchers of a paternal methylation imprint controlling the Igf2 gene led to the birth of a mouse (named Kaguya) with two maternal sets of chromosomes, though it is not a true parthenogenone since cells from two different female mice were used. (wikipedia.org)
  • In this cell division called meiosis, the two complete sets of chromosomes (maternal and paternal ones) in each body cell are reduced to a single one. (scienceblog.com)
  • Changes involving chromosome 21 can include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21. (medlineplus.gov)
  • Instead, it is found in the cytoplasm, where it exists as a single circular chromosome that is not enclosed by a membrane. (proprofs.com)
  • In prokaryotes, DNA is organized into a single circular chromosome. (coursehero.com)
  • Mitochondria contain DNA in a single circular chromosome that codes for 13 proteins, various RNAs, and several regulating enzymes. (msdmanuals.com)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells. (medlineplus.gov)
  • As an egg cell, or oocyte, matures inside a woman's ovary, it undergoes a type of cell division called meiosis, in which the pairs of chromosomes inside it are lined up and fished apart, and half of them are expelled. (scienceinschool.org)
  • It's been three years since the Sc2.0 team assembled the first synthetic yeast chromosome, which was composed of 272,871 base pairs. (xtalks.com)
  • 23 pairs of chromosomes. (cdc.gov)
  • Chromosome 21 abnormalities can cause intellectual disability, delayed development, and characteristic facial features. (medlineplus.gov)
  • The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
  • This report deals with cytogenetics in a broader sense rather than the classical use mainly to describe the chromosome structure and identify abnormalities related to disease. (biotechblog.com)
  • The team was able to improve this process by introducing the synthetic chunks of DNA into yeast cells, and manipulating the DNA replication machinery to complete the synthesis of the chromosome. (xtalks.com)
  • For instance, DNA replication and DNA damage checkpoints delay cell cycle progression until each chromosome is fully replicated and physically intact. (rupress.org)
  • With the rediscovery of his work in 1900 we explore the contribution of the early "Mendelians," the melding of Mendelian heredity with the theory of the chromosome, a synthesis that revealed a geography of heredity in the cell but did not answer the question, "What is the identity of the genetic material? (jrank.org)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • This module explores how chromosomes have evolved to be proficient vehicles of inheritance, and how differences and changes in chromosome number and structure have important implications for speciation and the fitness of eukaryotic organisms. (aber.ac.uk)
  • Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)
  • Only with the introduction of the Watson-Crick structure for DNA in 1953 was a window opened through which to glimpse the terrain that was to become "molecular genetics. (jrank.org)
  • This protein is found in humans, and its gene is found on chromosome 15. (wikipedia.org)
  • This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. (thermofisher.com)
  • Like the child's rod pulling a toy fish by its magnet, a microtubule catches a chromosome by its kinetochore - a cluster of protein and genetic material at the centre of the chromosome's X shape. (scienceinschool.org)
  • An outline has been given of the stepwise evolution of the functionally differentiated chromosome segments and their chemical make up including protein components and sequence complexity of DNA. (ias.ac.in)
  • This CD includes the Oryza sativa ACR-like protein (Os05g0113000) encoded on chromosome 5 and the Arabidopsis thaliana predicted gene product, At2g39570. (nih.gov)
  • The protein Mnd2 inhibits premature separation of chromosomes during the formation of gametes. (scienceblog.com)
  • The super-structure of chromatin is regulated by ring-shaped, ATP-dependent molecular motors belonging to the SMC family of protein complexes. (imperial.ac.uk)
  • 3D genomics provides access to the sequence, structure, and regulatory landscapes of genomes. (arimagenomics.com)
  • Finally, higher-order 3D chromosome folding is also thought to modulate gene expression and might contribute to inheritance 15 . (nature.com)
  • This chromatin remodelling activity is associated with regulation of gene expression in heterochromatin regions of plant and mammal chromosomes and with the cellular response to DNA damage. (imperial.ac.uk)
  • Throughout the life of a eukaryotic cell, chromosomes undergo drastic conformational rearrangements that play essential roles in almost all nuclear processes, including gene expression, DNA repair and cell division. (imperial.ac.uk)
  • For example, histone variants and histone modifications can influence local chromatin structure, either directly or indirectly. (nature.com)
  • This process of gene activation and deactivation is a function of changes in the chromatin structure - the DNA-histone complex - of chromosomes (see Box 1 opposite). (soci.org)
  • Knowledge of the higher order chromatin structure is critical for understanding mechanisms of gene regulation by long-range control elements such as enhancers and insulators. (nih.gov)
  • Extensive reorganization of higher-order chromatin structure occurs during hESC differentiation. (nih.gov)
  • A group of ATP-dependent enzymes that modify chromatin structure are involved in these processes. (imperial.ac.uk)
  • The term chromosome was coined by W.Waldever in 1888. (golifescience.com)
  • Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)
  • Chromosome 21 was the second human chromosome to be fully sequenced. (medlineplus.gov)
  • At present more than 1500 different mutations have been described. (wikipedia.org)
  • A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
  • κ light-chain deficiency is produced by mutations in IGKC located on chromosome 2p11. (lu.se)
  • The transmittance is autosomal recessive and have been point mutations described in one family. (lu.se)
  • Macromolecular synthesis (chromosome structure, cell division and its control). (lu.se)
  • Despite its biological importance, transfer RNA (tRNA) could not be adequately sequenced by Author Manuscript standard methods due to abundant post-transcriptional modifications and stable structure, which interfere with cDNA synthesis. (cdc.gov)
  • Significant obstacles for the sequencing of tRNA include the presence of numerous post-transcriptional modifications and its stable and extensive secondary structure, which interfere with cDNA synthesis and adapter ligation. (cdc.gov)
  • Take advantage of this structured quiz learn everything there is to know about prokaryotic and eukaryotic cells. (proprofs.com)
  • Ask questions to clarify relationships about the role of DNA and chromosomes in coding the instructions for characteristic traits passed from parents to offspring. (sciencebuddies.org)
  • Fluorescence "in situ" hybridization (FISH) technique enables chromosomes to be tagged with fluorescent dyes to highlight genetic traits. (lu.se)
  • Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. (medlineplus.gov)
  • Diploid organisms have one chromosome from each parent. (asmblog.org)
  • Each eukaryotic chromosome structure is composed of DNA coiled and condensed around nuclear proteins called histones. (golifescience.com)
  • Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)
  • Construct an explanation, based on evidence, for how the structure of DNA determines the structure of proteins, which carry out the essential functions of life through systems of specialized cells. (sciencebuddies.org)
  • Drivers and models of chromosome evolution, sex determination and breeding systems, extrachromosomal inheritance and epigenetics. (aber.ac.uk)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • Describe the appearance, habitat, etc. of the organism, and why you think it is important. (kenyon.edu)
  • A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
  • MS-LS1-7 Develop a model to describe how food is rearranged through chemical reactions forming new molecules that support growth and/or release energy as this matter moves through an organism. (thehappyscientist.com)
  • It is the outer most covering of the chromosome, formed of non-genetic material. (golifescience.com)
  • Affected people have two copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. (medlineplus.gov)
  • Chromosomes appear only immediately prior to cell division and are made up of 2 exact copies of genetic material (chromatids). (perkins.org)
  • It was a Tuesday afternoon in December 2017, and Paul Mischel , MD, then a cancer biologist at UC San Diego, had just finished giving a talk at Stanford describing a surprising observation: small circles of DNA in cancer cells bobbing in the cells' nuclei, untethered to nearby chromosomes - the multiple long chains of DNA that comprise the cells' genetic material. (stanford.edu)
  • A genetic rearrangement (translocation) involving chromosome 21 is associated with a type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML). (medlineplus.gov)
  • The translocation, written as t(8;21), fuses part of the RUNX1 gene from chromosome 21 with part of the RUNX1T1 gene (also known as ETO ) from chromosome 8. (medlineplus.gov)
  • The image shows chromosomes from a cancer patient, showing 2:3 translocation. (lu.se)
  • During organogenesis, the chromosomes, maintaining the basic genetic skeleton, undergo variation in structure and chemical components, thus exhibiting dynamism. (ias.ac.in)
  • However, regions of bacterial chromosomes undergo duplications at a very high frequency, and once duplicated these regions can be further amplified to high levels. (asmblog.org)
  • It may be that the ability of bacterial chromosomes to quickly undergo gene amplification in response to environmental selection is an effective alternative to the stable maintenance of one copy of each chromosome from both parents - seemingly different processes that are both effective solutions to the demands of evolution. (asmblog.org)
  • Defining and comparing karyotypes by chromosome components. (aber.ac.uk)
  • It has enabled the chromosomes to exert supreme control on all aspects of metabolism which are sequential and phasic in higher organisms. (ias.ac.in)
  • Viruses could tinker with gene structure, in many settings, exerting largely the same effects in males and females at the same time and at the same point on the chromosome, and do so to large numbers at once, and produce a large cluster of organisms that can breed with each other but not with the parent stock. (behavior.net)
  • Individuals have two of each chromosome and hence two alleles of each gene, one acquired from each parent. (perkins.org)
  • We found nine putative inter-lineage hybrids in the population structure analysis, each containing numerous lineage-specific private alleles from both lineages. (frontiersin.org)
  • Because males usually have no paired allele to offset the effects of most alleles on the X chromosome, the X chromosome allele is expressed in males even if the trait is recessive. (msdmanuals.com)
  • Moreover, using proximity ligation sequencing to generate chromosome span haplotypes, widespread allele biased gene activities are detected. (nih.gov)
  • Centromeres and flanking pericentromeric repeat regions of different chromosomes aggregate and form microscopically visible chromocenters in interphase nuclei [ 26 ]. (biomedcentral.com)
  • Here, they display a rendering of the rings (smallest circles) mixed with chromosomes (oblongs) and nuclei (large spots). (stanford.edu)
  • Each chromosome consists of a single very long DNA molecule, and each gene on the chromosome is a particular segment of that DNA. (perkins.org)
  • The chromosome of B. pertussis also undergoes frequent structural rearrangement ( 6 ) that presents unique challenges to thorough investigation of genetic contributions to disease resurgence, limiting assessment of public health strategies. (cdc.gov)
  • 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
  • The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
  • The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
  • 2. Outline the nature and effects on the phenotype of numerical and structural changes of chromosomes. (aber.ac.uk)
  • The nature of numerical and structural chromosome change and its relationship to fertility and aetiology of human genetic disorders. (aber.ac.uk)
  • Analysis of their structural domains, phylogeny and predicted 3D structures evidenced that both represent typical full-length ABC family C transporters. (usda.gov)
  • Discerning the central role of chromosomes in governing the phenotype is an important skill in terms of pursuing a career in clinical and biomedical science. (aber.ac.uk)
  • The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)
  • Here we describe a detailed protocol for the purification of fluorescently labeled spindle pole bodes from S. cerevisiae. (nih.gov)
  • Studies using a derivative of chromosome conformation capture (3C) known as 'Hi-C' have revealed that long-range genomic contacts segregate TADs into an active (A) and inactive (B) compartment [ 37 ]. (biomedcentral.com)
  • Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. (medlineplus.gov)
  • The fusion of two germ cells, one of which carried two copies of chromosomes 21, gave rise to body cells carrying three chromosomes 21. (scienceblog.com)
  • We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
  • We illustrate its unique spatial and temporal connections to early Polynesian communities, and through an analysis of associated short tandem repeat variation, we describe the first clear genealogic structure within Polynesia. (ku.edu)
  • Epigenetics basically describes when, where and how a gene is expressed. (soci.org)
  • However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
  • We have refined our genetic mapping and describe two apparent founder haplotypes, one of which is present in two families with BFPP and associated microcephaly. (nih.gov)
  • We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus on chromosome 16q12-21. (nih.gov)
  • In a very small percentage of cases, Down syndrome results from an extra copy of chromosome 21 in only some of the body's cells. (medlineplus.gov)
  • In some cases, the signs and symptoms are similar to those of Down syndrome (described above). (medlineplus.gov)
  • Crouzon syndrome was first described in 1912. (medscape.com)
  • Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
  • Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)
  • The chromosome number differs from species and it may range from two to several hundred. (golifescience.com)
  • We then randomly sampled the stratified collection to maximize the number of source states (n = 34) during each period with equal weighting ( Figure 1 , panel A, B). Most isolates were characterized by existing molecular approaches, multilocus variable-number tandem-repeat analysis (MLVA), and pulsed-field gel electrophoresis (PFGE), as described previously ( 9 ). (cdc.gov)
  • J) describe unique elements of the molecular structure of a chromosome such as short tandem repeats (STR), transposons, and methylation and acetylation of DNA. (tx.us)
  • While some of their biological functions have been well described, the molecular mechanism by which these complexes function remains poorly understood. (imperial.ac.uk)
  • be able to describe molecular genetic processes in bacteria. (lu.se)
  • To date, molecular epidemiologic studies detailing the phylogeographic structure of H. capsulatum in the United States have been limited. (cdc.gov)
  • As students of biology are learning about the structure of the chromosome, present this model in addition to any raised lines that the text provides. (perkins.org)
  • and Ponder, Christine A. (2007) "A Polynesian Motif on the Y Chromosome: Population Structure in Remote Oceania," Human Biology: Vol. 79: Iss. (ku.edu)
  • Prof. Franz Klein and his colleague, Ph.D. student Alexandra Penkner from the Department of Chromosome Biology of the Max Perutz Laboratories at the Campus Vienna Biocenter, have now published results on an important regulation of this process in the journal CELL. (scienceblog.com)