Genome
Genome, Human
Sequence Analysis, DNA
Base Sequence
Evolution, Molecular
Chromosome Mapping
Open Reading Frames
Sequence Alignment
Synteny
Human Genome Project
Molecular Sequence Data
Computational Biology
Models, Genetic
Amino Acid Sequence
Recombination, Genetic
Species Specificity
Multigene Family
Chromosomes, Artificial, Bacterial
Gene Duplication
Repetitive Sequences, Nucleic Acid
Software
Molecular Sequence Annotation
DNA Transposable Elements
DNA, Mitochondrial
Sequence Homology, Nucleic Acid
Mutation
Cloning, Molecular
Contig Mapping
Conserved Sequence
Gene Transfer, Horizontal
Transcription, Genetic
Retroelements
Nucleic Acid Hybridization
Databases, Nucleic Acid
Chromosomes, Plant
Expressed Sequence Tags
High-Throughput Nucleotide Sequencing
Pseudogenes
Physical Chromosome Mapping
Polymerase Chain Reaction
Algorithms
Biological Evolution
Virus Replication
Genomic Instability
Polyploidy
Genetic Markers
DNA
Gene Expression Profiling
Sequence Homology, Amino Acid
Genome, Microbial
Plasmids
Internet
Genome Components
Sequence Homology
Oryza sativa
Chromosomes
DNA, Intergenic
Gene Rearrangement
Nucleic Acid Conformation
Polymorphism, Single Nucleotide
Chromosomes, Bacterial
Oligonucleotide Array Sequence Analysis
Mutagenesis, Insertional
DNA Restriction Enzymes
Cluster Analysis
Genetic Linkage
Gene Library
Gene Dosage
Codon
DNA Primers
Phenotype
Restriction Mapping
Genotype
Selection, Genetic
Genes
Introns
Terminal Repeat Sequences
User-Computer Interface
Prophages
Blotting, Southern
INDEL Mutation
Microsatellite Repeats
Escherichia coli
Genes, Mitochondrial
Gene Deletion
Genomic Library
Comparative Genomic Hybridization
Arabidopsis
RNA, Transfer
Vertebrates
Prokaryotic Cells
Symbiosis
Sequence Analysis, RNA
Promoter Regions, Genetic
Interspersed Repetitive Sequences
RNA, Messenger
Plants
Saccharomyces cerevisiae
Virulence
Inverted Repeat Sequences
Plastids
Virus Integration
Bacteria
Sorghum
Gene Expression Regulation, Bacterial
Gene Expression Regulation, Viral
DNA, Circular
Genetic Loci
Chromosomes, Human
Short Interspersed Nucleotide Elements
Genetic Vectors
Genetic Engineering
Segmental Duplications, Genomic
DNA, Complementary
Polymorphism, Genetic
Drosophila melanogaster
Eukaryotic Cells
Metabolic Networks and Pathways
GC Rich Sequence
Mammals
Cell Nucleus
Long Interspersed Nucleotide Elements
Transcriptome
Hybridization, Genetic
Alleles
Pan troglodytes
Eukaryota
Archaea
Genes, Duplicate
Angiosperms
Tetraodontiformes
DNA Copy Number Variations
Gene Expression Regulation
Diploidy
Mutation Rate
Defective Viruses
Chromosome Inversion
Untranslated Regions
Crosses, Genetic
DNA-Binding Proteins
Likelihood Functions
Tandem Repeat Sequences
Genomic Islands
Exons
Binding Sites
DNA Repair
Plant Proteins
Zea mays
RNA
Genetic Techniques
5' Untranslated Regions
Alu Elements
Chromatin
Genes, Overlapping
Chromosomes, Mammalian
Endogenous Retroviruses
Genome-Wide Association Study
Computer Graphics
Siphoviridae
DNA Methylation
Gene Expression
Ribozymes, genomics and therapeutics. (1/9340)
Genome-sequencing projects are proceeding at a rapid pace and determining the function of open reading frames is the next great challenge. Ribozymes with site-specific cleaving activity could aid greatly in this process. High-throughput screening methods to identify optimal target sites for ribozyme cleavage will provide tools for functional genomics as well as therapeutic reagents. (+info)Nonmethylated transposable elements and methylated genes in a chordate genome. (2/9340)
The genome of the invertebrate chordate Ciona intestinalis was found to be a stable mosaic of methylated and nonmethylated domains. Multiple copies of an apparently active long terminal repeat retrotransposon and a long interspersed element are nonmethylated and a large fraction of abundant short interspersed elements are also methylation free. Genes, by contrast, are predominantly methylated. These data are incompatible with the genome defense model, which proposes that DNA methylation in animals is primarily targeted to endogenous transposable elements. Cytosine methylation in this urochordate may be preferentially directed to genes. (+info)Alternative splicing of transcripts encoding the alpha- and beta-subunits of mouse glucosidase II in T lymphocytes. (3/9340)
Glucosidase II is a processing enzyme of the endoplasmic reticulum that functions to hydrolyze two glucose residues in immature N -linked oligosaccharides attached to newly synthesized polypeptides. We previously reported the cDNA cloning of the alpha- and beta-subunits of mouse glucosidase II from T cells following copurification of these proteins with the highly glycosylated transmembrane protein-tyrosine phosphatase CD45. Subsequent examination of additional cDNA clones, coupled with partial genomic DNA sequencing, has revealed that both subunits are encoded by gene products that undergo alternative splicing in T lymphocytes. The catalytic alpha-subunit possesses two variably expressed segments, box Alpha1, consisting of 22 amino acids located proximal to the amino-terminus, and box Alpha2, composed of 9 amino acids situated between the amino-terminus and the putative catalytic site in the central region of the molecule. Box Beta1, a variably expressed 7 amino acid segment in the beta-subunit of glucosidase II, is located immediately downstream of an acidic stretch near the carboxyl-terminus. Screening of reverse transcribed RNA by polymerase chain reaction confirms the variable inclusion of each of these segments in transcripts obtained from a panel of T-lymphocyte cell lines. Thus, distinct isoforms of glucosidase II exist that may perform specialized functions. (+info)An intact sperm nuclear matrix may be necessary for the mouse paternal genome to participate in embryonic development. (4/9340)
We have been interested in determining the minimally required elements in the sperm head that are necessary in order for the paternal genome to participate in embryogenesis. We used an ionic detergent, mixed alkyltrimethylammonium bromide (ATAB), plus dithiothreitol (DTT) to remove the acrosome and almost all of the perinuclear theca, leaving only the sperm nucleus morphologically intact. We also tested the stability of the sperm nuclear matrix by the ability to form nuclear halos. Sperm nuclei washed in freshly prepared 0.5% ATAB + 2 mM DTT completely decondensed when extracted with salt, but nuclei washed in the same buffer that was 1 wk old, and then extracted with salt, produced nuclear halos, indicating stable nuclear matrices. When we treated sperm heads with freshly prepared ATAB+DTT and injected them into oocytes, none of the oocytes developed into live offspring. In contrast, sperm heads treated in the same way but with 1-wk-old ATAB+DTT solution could support development of about 30% of the oocytes to live offspring. Electron microscopy demonstrated that most of the perinuclear theca had been removed in both cases. These data suggest that at least in the mouse, the only component of the spermatozoa that is crucial for participation in embryologic development is the sperm nucleus with a stable nuclear matrix. (+info)The prokaryotic beta-recombinase catalyzes site-specific recombination in mammalian cells. (5/9340)
The development of new strategies for the in vivo modification of eukaryotic genomes has become an important objective of current research. Site-specific recombination has proven useful, as it allows controlled manipulation of murine, plant, and yeast genomes. Here we provide the first evidence that the prokaryotic site-specific recombinase (beta-recombinase), which catalyzes only intramolecular recombination, is active in eukaryotic environments. beta-Recombinase, encoded by the beta gene of the Gram-positive broad host range plasmid pSM19035, has been functionally expressed in eukaryotic cell lines, demonstrating high avidity for the nuclear compartment and forming a clear speckled pattern when assayed by indirect immunofluorescence. In simian COS-1 cells, transient beta-recombinase expression promoted deletion of a DNA fragment lying between two directly oriented specific recognition/crossing over sequences (six sites) located as an extrachromosomal DNA substrate. The same result was obtained in a recombination-dependent lacZ activation system tested in a cell line that stably expresses the beta-recombinase protein. In stable NIH/3T3 clones bearing different number of copies of the target sequences integrated at distinct chromosomal locations, transient beta-recombinase expression also promoted deletion of the intervening DNA, independently of the insertion position of the target sequences. The utility of this new recombination tool for the manipulation of eukaryotic genomes, used either alone or in combination with the other recombination systems currently in use, is discussed. (+info)Genome reduction in a hemiclonal frog Rana esculenta from radioactively contaminated areas. (6/9340)
A decrease in genome size was found in the hemiclonal hybridogenetic frog Rana esculenta (R. ridibunda x R. lessonae) from areas of radioactive contamination that resulted from the Chernobyl fallout. This genome reduction was of up to 4% and correlated with the background level of gamma-radiation (linear regression corresponded on average to -0.4% per doubling of radiation level). No change in genome size was observed in the coexisting parental species R. lessonae. There was no correlation between genome size and body mass in R. esculenta froglets, which have metamorphosed in the year of the study. The hemiclonal forms may become a suitable object for study on biological significance of individual DNA sequences (and of genome size as a whole) because mutant animals with deletions in a specified genome can arise after a low radiation dose. The proneness to genetic damage makes such forms also a prospective bioindicator of radioactive (and possibly other mutagenic) pollution with the effects of genetic damage conveniently and rapidly monitored by DNA flow cytometry. (+info)Sequence analysis of cDNA and genomic DNA, and mRNA expression of the medaka fish homolog of mammalian guanylyl cyclase C. (7/9340)
We isolated the cDNA and genomic DNA encoding a membrane guanylyl cyclase of medaka fish (designated as OlGC6), and determined their complete nucleotide sequences. The open reading frame for OlGC6 cDNA predicted a protein of 1,075 amino acids. Phylogenetic analysis indicated that OlGC6 is a member of the enterotoxin/guanylin receptor family. We also determined the partial genomic structure of the gene of another membrane guanylyl cyclase of medaka fish, OlGC2, which is a member of the natriuretic peptide receptor family. The intron positions relative to the protein-coding sequence are highly conserved in the intracellular domains of OlGC6, OlGC2, mammalian GC-A, and GC-E. Despite their divergent primary structures, some intron positions also seem to be conserved in the extracellular domains of different membrane guanylyl cyclase genes. Northern blot analysis demonstrated that an OlGC6 transcript of 3.9 kb is only present in the intestine, while reverse transcription (RT)-PCR analysis demonstrated that the OlGC6 transcript is present in the kidney, spleen, liver, pancreas, gallbladder, ovary, testis, brain, and eye. RT-PCR also demonstrated that OlGC6 is only expressed zygotically and that transcripts are present from 1 day after fertilization, i.e. long before the intestinal tissues begin to develop. (+info)Cloning and characterization of RGS9-2: a striatal-enriched alternatively spliced product of the RGS9 gene. (8/9340)
Regulators of G-protein signaling (RGS) proteins act as GTPase-activating proteins (GAPs) for alpha subunits of heterotrimeric G-proteins. Previous in situ hybridization analysis of mRNAs encoding RGS3-RGS11 revealed region-specific expression patterns in rat brain. RGS9 showed a particularly striking pattern of almost exclusive enrichment in striatum. In a parallel study, RGS9 cDNA, here referred to as RGS9-1, was cloned from retinal cDNA libraries, and the encoded protein was identified as a GAP for transducin (Galphat) in rod outer segments. In the present study we identify a novel splice variant of RGS9, RGS9-2, cloned from a mouse forebrain cDNA library, which encodes a striatal-specific isoform of the protein. RGS9-2 is 191 amino acids longer than the retinal isoform, has a unique 3' untranslated region, and is highly enriched in striatum, with much lower levels seen in other brain regions and no expression detectable in retina. Immunohistochemistry showed that RGS9-2 protein is restricted to striatal neuropil and absent in striatal terminal fields. The functional activity of RGS9-2 is supported by the finding that it, but not RGS9-1, dampens the Gi/o-coupled mu-opioid receptor response in vitro. Characterization of a bacterial artificial chromosome genomic clone of approximately 200 kb indicates that these isoforms represent alternatively spliced mRNAs from a single gene and that the RGS domain, conserved among all known RGS members, is encoded over three distinct exons. The distinct C-terminal domains of RGS9-2 and RGS9-1 presumably contribute to unique regulatory properties in the neural and retinal cells in which these proteins are selectively expressed. (+info)There are several types of genomic instability, including:
1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.
Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.
Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.
In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.
Polyploidy is a condition where an organism has more than two sets of chromosomes, which are the thread-like structures that carry genetic information. It can occur in both plants and animals, although it is relatively rare in most species. In humans, polyploidy is extremely rare and usually occurs as a result of errors during cell division or abnormal fertilization.
In medicine, polyploidy is often used to describe certain types of cancer, such as breast cancer or colon cancer, that have extra sets of chromosomes. This can lead to the development of more aggressive and difficult-to-treat tumors.
However, not all cases of polyploidy are cancerous. Some individuals with Down syndrome, for example, have an extra copy of chromosome 21, which is a non-cancerous form of polyploidy. Additionally, some people may be born with extra copies of certain genes or chromosomal regions due to errors during embryonic development, which can lead to various health problems but are not cancerous.
Overall, the term "polyploidy" in medicine is used to describe any condition where an organism has more than two sets of chromosomes, regardless of whether it is cancerous or non-cancerous.
Inversions are classified based on their location along the chromosome:
* Interstitial inversion: A segment of DNA is reversed within a larger gene or group of genes.
* Pericentric inversion: A segment of DNA is reversed near the centromere, the region of the chromosome where the sister chromatids are most closely attached.
Chromosome inversions can be detected through cytogenetic analysis, which allows visualization of the chromosomes and their structure. They can also be identified using molecular genetic techniques such as PCR (polymerase chain reaction) or array comparative genomic hybridization (aCGH).
Chromosome inversions are relatively rare in the general population, but they have been associated with various developmental disorders and an increased risk of certain diseases. For example, individuals with an inversion on chromosome 8p have an increased risk of developing cancer, while those with an inversion on chromosome 9q have a higher risk of developing neurological disorders.
Inversions can be inherited from one or both parents, and they can also occur spontaneously as a result of errors during DNA replication or repair. In some cases, inversions may be associated with other genetic abnormalities, such as translocations or deletions.
Overall, chromosome inversions are an important aspect of human genetics and can provide valuable insights into the mechanisms underlying developmental disorders and disease susceptibility.
1. Activation of oncogenes: Some viruses contain genes that code for proteins that can activate existing oncogenes in the host cell, leading to uncontrolled cell growth.
2. Inactivation of tumor suppressor genes: Other viruses may contain genes that inhibit the expression of tumor suppressor genes, allowing cells to grow and divide uncontrollably.
3. Insertional mutagenesis: Some viruses can insert their own DNA into the host cell's genome, leading to disruptions in normal cellular function and potentially causing cancer.
4. Epigenetic changes: Viral infection can also cause epigenetic changes, such as DNA methylation or histone modification, that can lead to the silencing of tumor suppressor genes and the activation of oncogenes.
Viral cell transformation is a key factor in the development of many types of cancer, including cervical cancer caused by human papillomavirus (HPV), and liver cancer caused by hepatitis B virus (HBV). In addition, some viruses are specifically known to cause cancer, such as Kaposi's sarcoma-associated herpesvirus (KSHV) and Merkel cell polyomavirus (MCV).
Early detection and treatment of viral infections can help prevent the development of cancer. Vaccines are also available for some viruses that are known to cause cancer, such as HPV and hepatitis B. Additionally, antiviral therapy can be used to treat existing infections and may help reduce the risk of cancer development.
When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.
There are several types of chromosome breakage, including:
1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.
Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.
In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.
Tetraploidy can be caused by various factors such as:
1. Polyploidy: This is a condition where an individual has more than two sets of chromosomes, including tetraploidy.
2. Chromosomal abnormalities: Such as aneuploidy, where there is an extra or missing copy of a specific chromosome.
3. Genetic disorders: Such as Down syndrome, which is caused by an extra copy of chromosome 21.
4. Environmental factors: Exposure to certain chemicals or radiation can increase the risk of tetraploidy.
Symptoms of tetraploidy can vary depending on the severity of the condition and may include:
1. Growth delays: Children with tetraploidy may experience slowed growth and development.
2. Intellectual disability: Some individuals with tetraploidy may have cognitive impairments and learning difficulties.
3. Physical abnormalities: Tetraploidy can result in a variety of physical characteristics, such as short stature, thinning hair, and distinctive facial features.
4. Increased risk of health problems: Individuals with tetraploidy may be more susceptible to certain health issues, such as heart defects, hearing loss, and vision problems.
Diagnosis of tetraploidy is typically made through chromosomal analysis, which can be performed on a blood or tissue sample. Treatment for tetraploidy is not always necessary, but may include:
1. Monitoring growth and development: Regular check-ups with a healthcare provider can help track the child's growth and development.
2. Speech and language therapy: Children with tetraploidy may benefit from speech and language therapy to address any communication difficulties.
3. Occupational therapy: Individuals with tetraploidy may need occupational therapy to help them develop skills and abilities.
4. Medication: In some cases, medication may be prescribed to manage associated health problems, such as heart defects or seizures.
It is important to note that every individual with tetraploidy is unique and may have a different experience and outcome. With appropriate medical care and support, many individuals with tetraploidy can lead fulfilling lives.
Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.
The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.
Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.
Examples of diseases with a known genetic predisposition:
1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.
Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."
These disorders are caused by changes in specific genes that fail to function properly, leading to a cascade of effects that can damage cells and tissues throughout the body. Some inherited diseases are the result of single gene mutations, while others are caused by multiple genetic changes.
Inherited diseases can be diagnosed through various methods, including:
1. Genetic testing: This involves analyzing a person's DNA to identify specific genetic changes that may be causing the disease.
2. Blood tests: These can help identify certain inherited diseases by measuring enzyme levels or identifying specific proteins in the blood.
3. Imaging studies: X-rays, CT scans, and MRI scans can help identify structural changes in the body that may be indicative of an inherited disease.
4. Physical examination: A healthcare provider may perform a physical examination to look for signs of an inherited disease, such as unusual physical features or abnormalities.
Inherited diseases can be treated in various ways, depending on the specific condition and its causes. Some treatments include:
1. Medications: These can help manage symptoms and slow the progression of the disease.
2. Surgery: In some cases, surgery may be necessary to correct physical abnormalities or repair damaged tissues.
3. Gene therapy: This involves using genes to treat or prevent inherited diseases.
4. Rehabilitation: Physical therapy, occupational therapy, and other forms of rehabilitation can help individuals with inherited diseases manage their symptoms and improve their quality of life.
Inherited diseases are a significant public health concern, as they affect millions of people worldwide. However, advances in genetic research and medical technology have led to the development of new treatments and management strategies for these conditions. By working with healthcare providers and advocacy groups, individuals with inherited diseases can access the resources and support they need to manage their conditions and improve their quality of life.
Some common effects of chromosomal deletions include:
1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.
Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.
There are several types of chromosome aberrations, including:
1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.
Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.
Chromosome aberrations are associated with a wide range of diseases, including:
1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.
Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.
Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.
Types of Neoplasms
There are many different types of neoplasms, including:
1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.
Causes and Risk Factors of Neoplasms
The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:
1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.
Signs and Symptoms of Neoplasms
The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:
1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.
Diagnosis and Treatment of Neoplasms
The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.
The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:
1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.
Prevention of Neoplasms
While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:
1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.
It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.
The symptoms of chromosome duplication vary depending on the location and number of extra chromosomes present. Some common symptoms include:
* Delayed development and growth
* Intellectual disability
* Speech and language delays
* Physical abnormalities, such as heart defects or facial dysmorphism
* Increased risk of developing certain health problems, such as autism or epilepsy
Chromosome duplication can be diagnosed through a blood test or by analyzing cells from the body. Treatment is based on the specific symptoms and may include speech therapy, physical therapy, medication, or surgery.
Prognosis for individuals with chromosome duplication varies depending on the location and number of extra chromosomes present, as well as the presence of any other genetic conditions. Some individuals with chromosome duplication may have a good prognosis and lead normal lives, while others may experience significant health problems and developmental delays.
In some cases, chromosome duplication can be inherited from one or both parents, who may be carriers of the condition but do not exhibit any symptoms themselves. In other cases, chromosome duplication can occur spontaneously due to a mistake during cell division.
There is currently no cure for chromosome duplication, but early diagnosis and appropriate interventions can help manage symptoms and improve outcomes for affected individuals.
Types of Adenovirus Infections:
There are over 50 different serotypes of adenoviruses, and each one can cause a specific type of infection. Some of the most common types of adenovirus infections include:
1. Respiratory infections: Adenoviruses can cause upper respiratory tract infections such as bronchitis, bronchiolitis, and pneumonia.
2. Gastrointestinal infections: Adenoviruses can cause gastroenteritis, which is an inflammation of the stomach and intestines.
3. Eye infections: Adenoviruses can cause conjunctivitis, which is an infection of the eye that can lead to redness, swelling, and discharge.
4. Urinary tract infections: Adenoviruses can cause urinary tract infections (UTIs) such as cystitis and pyelonephritis.
5. Inflammatory diseases: Adenoviruses have been linked to certain inflammatory diseases such as arthritis, asthma, and dermatitis.
Symptoms of Adenovirus Infections:
The symptoms of adenovirus infections can vary depending on the type of infection and the age of the individual. Some common symptoms include:
1. Fever
2. Runny nose
3. Sore throat
4. Coughing
5. Diarrhea
6. Vomiting
7. Abdominal pain
8. Headache
9. Fatigue
10. Muscle aches
Diagnosis of Adenovirus Infections:
Adenovirus infections are typically diagnosed based on the symptoms and medical history of the individual. In some cases, a healthcare provider may perform laboratory tests to confirm the presence of the virus. These tests can include:
1. Polymerase chain reaction (PCR): This test detects the genetic material of the virus in a sample of body fluid or tissue.
2. Viral culture: This test involves growing the virus in a laboratory setting to confirm its presence.
3. Serology tests: These tests measure the levels of antibodies against the virus in the blood.
Treatment and Prevention of Adenovirus Infections:
There is no specific treatment for adenovirus infections, but supportive care can help manage symptoms. This can include:
1. Rest and hydration: Drinking plenty of fluids and getting enough rest can help the body recover from the infection.
2. Medications: Over-the-counter medications such as acetaminophen or ibuprofen can help relieve fever and pain.
3. Antiviral medications: In severe cases, antiviral medications may be prescribed to help reduce the severity of the infection.
Prevention is key to avoiding adenovirus infections. Here are some ways to prevent the spread of the virus:
1. Hand washing: Frequent hand washing, especially after coming into contact with someone who is sick or touching surfaces that may have the virus on them, can help prevent the spread of the virus.
2. Avoiding close contact: Avoiding close contact with people who are sick can help prevent the spread of the virus.
3. Disinfecting surfaces: Regularly disinfecting surfaces and objects that may have the virus on them can help reduce the risk of infection.
4. Vaccination: There is currently no licensed vaccine available to protect against adenovirus infections, but research is ongoing to develop one.
Conclusion:
Adenovirus infections are common and can cause a range of symptoms, from mild to severe. While there is no specific treatment for the infection, supportive care can help manage symptoms. Prevention is key to avoiding adenovirus infections, and this can be achieved through frequent hand washing, avoiding close contact with people who are sick, regularly disinfecting surfaces, and avoiding sharing personal items. Research is ongoing to develop a vaccine against adenovirus infections.
Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.
Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.
In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.
It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.
See also: Cancer, Tumor
Word count: 190
https://www.medicinenet.com › Medical Dictionary › G
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...
Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.
Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.
Genome
Genome size
Genome (disambiguation)
Apple genome
Genome Hazard
Genome editing
Fungal genome
Genome (novel)
Adenovirus genome
Genome Research
Horse genome
Bovine genome
Genome project
Movie Genome
Genome instability
Reference genome
Genome Medicine
Genome Canada
Second Genome
Mammalian Genome
Human genome
Genome@home
Jute genome
Genome (book)
Genome skimming
Minimal genome
Materials Genome
Genome Biology
Bacterial genome
Genome (journal)
The genome of the pygmy right whale illuminates the evolution of rorquals | BMC Biology | Full Text
Whole Genome Sequencing | CDC
Genome Reference Consortium | SlideShare - English
NSF - OLPA: Arabidopsis Genome Initiative: Links
No items found - Genome - NCBI
Genome Coordinates: 1V6Z
Beethoven's genome offers clues to composer's | EurekAlert!
Genome Dictionary - Genetics Glossary - D
Xenotransplant and Genome Editing Core
Structural variation in the human genome | Nature Reviews Genetics
'Milestone' Catalogue of Mutations in the Cancer...
Analyzing the Sheep Genome for Parasite Resistance : USDA ARS
Module MSE-3023: Genome Instability, Bangor University
Rabbit Genome Project | Broad Institute
Computational Genome Biology - Mohamed Kammoun
Genome Sciences Centre
Human Genome Graphs
Medicine's Future, From a Leader in Genome Editing and Stem Cells
Gliding Mammal Genome Reveals Primate Sister Group | GenomeWeb
THE GENOME CHANGES EVERYTHING | Edge.org
KEGG GENOME: Lelliottia jeotgali
Pompeii: Human genome of victim sequenced for the first time | CNN
Genome Notes - Darwin Tree of Life - Wellcome Sanger Institute
Castor Bean Genome Published by Research Team Including Scientists from the Venter Institute
Genome Viewer
National Human Genome Research Institute Home | NHGRI
Sequencing35
- What is whole genome sequencing (WGS)? (cdc.gov)
- Whole genome sequencing is a laboratory procedure that determines the order of bases in the genome of an organism in one process. (cdc.gov)
- How does whole genome sequencing work? (cdc.gov)
- How has whole genome sequencing improved disease detection? (cdc.gov)
- Since 2019, whole genome sequencing has been the standard PulseNet method for detecting and investigating foodborne outbreaks associated with bacteria such as Campylobacter , Shiga toxin-producing E. coli (STEC), Salmonella , Vibrio , and Listeria . (cdc.gov)
- Since being launched, whole genome sequencing of pathogens in public health laboratories has improved surveillance for foodborne disease outbreaks and enhanced our ability to detect trends in foodborne infections and antimicrobial resistance. (cdc.gov)
- Whole genome sequencing provides detailed and precise data for identifying outbreaks sooner. (cdc.gov)
- As the use of whole genome sequencing expands, CDC's national surveillance systems and laboratory infrastructure must keep pace with the changing technology. (cdc.gov)
- Whole genome sequencing is a fast and affordable way to obtain detailed information about bacteria using just one test. (cdc.gov)
- The implementation of whole genome sequencing of pathogens for detecting and tracking foodborne outbreaks was made possible through collaborations with CDC's Advanced Molecular Detection (AMD) Office, Food Safety Office , and Antimicrobial Resistance Solutions Initiative . (cdc.gov)
- Stein explained that although the portrait of sequences that emerged from exome sequencing was a gold mine that provided insights into cancer biology and advanced precision treatment through targeted therapy, it represented a mere 1% of the genome. (medscape.com)
- The PCAWG built on the work of the International Cancer Genome Consortium (ICGC) and the Cancer Genome Atlas Cancer sequencing projects to uniformly analyze more than 2500 whole-cancer genomes - 100% of the cancer genome. (medscape.com)
- In November 2022, Broad's Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th. (broadinstitute.org)
- Harnessing cutting-edge genome sequencing and analytical techniques. (bcgsc.ca)
- By developing and deploying cutting-edge genome sequencing, computational and analytical technology, we are creating novel strategies to prevent and diagnose cancers and other diseases, uncovering new therapeutic targets and helping the world realize the social and economic benefits of genome science. (bcgsc.ca)
- Through the Personalized OncoGenomics (POG) program , the GSC deploys whole genome and transcriptome sequencing to inform therapeutic and management strategies for late-stage cancer patients in real time. (bcgsc.ca)
- Sequencing, assembly and comparative analysis of four spruce giga-genomes completed as part of the SpruceUp project, which aims to enhance the genomic knowledge and accelerate spruce breeding programs across the nation. (bcgsc.ca)
- With this genome sequence, and targeted sequencing on samples from dozens of colugo museum specimens, the team concluded that colugos are primates' closest living relatives, despite their physical resemblance to treeshrews. (genomeweb.com)
- Genome sequencing at the laboratory in the Kenya Medical Research Institute in the coastal Kilifi town previously focused on research projects, sequencing about two dozen samples a week. (who.int)
- Now serving five countries and part of the continent-wide 12 laboratory network set up by WHO and the Africa Centres for Disease Control to upscale the region's pathogen surveillance through genome sequencing, the Kilifi laboratory sequences up to 200 samples weekly, although it has a capacity of up to 700. (who.int)
- Genome sequencing is central to combatting COVID-19, allowing governments and health authorities to take swift and informed public health decisions such as measures to bolster preparedness for potential surges owing to more infectious variants or stepping up vaccination, diagnostics and treatment. (who.int)
- Dr Gumede-Moeletsi points out that sending samples from one country to another for sequencing is a "stop-gap solution," adding that "ultimately, countries have to be able to sequence and analyse genomes without relying on outside support. (who.int)
- African countries are making great strides towards self-sufficiency in genome sequencing. (who.int)
- Genome sequencing can revolutionize public health and transform responses to other major health threats beyond COVID-19. (who.int)
- Over the past two decades, genome sequencing has been pivotal in the efforts to tackle HIV, tuberculosis, Ebola, polio, measles, hepatitis B and C among others in Africa. (who.int)
- The sequencing of the castor bean genome to 4.5 X coverage was conducted at JCVI. (prnewswire.com)
- Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. (bvsalud.org)
- We report a 7-wk-old infant who was admitted with neonatal cholestasis , and who was diagnosed with a novel homozygous stop-gain variant in NPC1 by rapid whole- genome sequencing (WGS). (bvsalud.org)
- This study examined the added value of whole genome sequencing (WGS) for investigating a non-point source outbreak of Salmonella ser. (who.int)
- 2016) Whole genome sequencing of Salmonella Typhimurium illuminates distinct outbreaks caused by an endemic multi-locus variable number tandem repeat analysis type in Australia, 2014. (who.int)
- 2016) Expert opinion on whole genome sequencing for public health surveillance. (who.int)
- 2017) Examples of How FDA Has Used Whole Genome Sequencing of Foodborne Pathogens For Regulatory Purposes. (who.int)
- 2016) Identification of Salmonella for public health surveillance using whole genome sequencing. (who.int)
- 7) Octavia S, Wang Q, Tanaka MM, Kaur S, Sintchenko V, Lan R. (2015) Delineating community outbreaks of Salmonella enterica serovar Typhimurium by use of whole-genome sequencing: insights into genomic variability within an outbreak. (who.int)
- 10) Carleton HA, Gerner-Smidt P. (2016) Whole-genome sequencing is taking over foodborne disease surveillance. (who.int)
Genes11
- Furthermore, a genome-wide comparison of selection rates between large and small-bodied baleen whales revealed a small set of conserved candidate genes with potential connections to cancer resistance. (biomedcentral.com)
- The genome of the smallest baleen whale was used to update the rorqual phylogeny and to identify genes related to cancer resistance. (biomedcentral.com)
- Within a genome, genes are connected to each other through a complex network of interactions. (nature.com)
- Genome-wide association studies (GWAS) help scientists identify genes associated with a particular disease (or another trait). (medlineplus.gov)
- The key lies in the dynamic ever-changing structure of the chromatin, which is the underlying complex of protein and DNA making up the chromosomes in which almost all genes are housed within the genome. (news-medical.net)
- The team identified 23,081 predicted protein-coding genes in the genome, which they compared to sequences from several other mammals and to a lower-coverage genome assembly for a male Philippine colugo. (genomeweb.com)
- Permission of the principal investigator should be obtained before publishing analyses of the sequence/open reading frames/genes on a chromosome or genome scale. (sanger.ac.uk)
- The results of this work show that the genome is 350 Mb and has an estimated 31,237 genes. (prnewswire.com)
- The Human Genome Project began in 1990 with the task of mapping the genes that would compose the human genetic code. (bvsalud.org)
- Recently, the general coordinator of the Cancer Genome Project in Brazil, suggested the existence of a set of genes responsible for criminal behavior, discarding the relevant role of environmental variables (ontogenetic and cultural). (bvsalud.org)
- The S. alopecuroides chloroplast genome consists of 132 genes, including 83 protein-coding genes, 41 transfer RNA (tRNA) genes, and eight ribosomal RNA (rRNA) genes. (who.int)
Annotation of the human genome2
- The rabbit genome project will not only greatly aid the study of immunology, and biomedical research in general, but will also help with the annotation of the human genome. (broadinstitute.org)
- 2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome. (bvsalud.org)
Sequence10
- All organisms (bacteria, vegetable, mammal) have a unique genetic code, or genome, that is composed of nucleotide bases (A, T, C, and G). If you know the sequence of the bases in an organism, you have identified its unique DNA fingerprint, or pattern. (cdc.gov)
- 1. Marthaler D, Jiang Y, Otterson T, Goyal S, Rossow K, Collins J. Complete genome sequence of porcine epidemic diarrhea virus strain USA/Colorado/2013 from the United States. (cdc.gov)
- For the pan-cancer analysis , whole-genome sequence data were available for 2605 primary tumors and 173 metastases or local recurrences, which corresponded with 2658 cancer genomes with matched normal tissues. (medscape.com)
- Specifies which version of the organism's genome sequence to use. (ucsc.edu)
- The researchers used Illumina instruments to sequence DNA from a male Sunda colugo from West Java, covering the genome to an average 55-fold coverage. (genomeweb.com)
- With these reads, they put together a 3.2 billion-base draft genome assembly for the colugo, annotated with the help of colugo RNA sequences from a sequence read archive. (genomeweb.com)
- A genome sequence is like a fingerprint for the virus," says Dr George Githinji, Team Lead of Genomic Surveillance at the Kenya Medical Research Institute in Kilifi. (who.int)
- While scientists could obtain ancient DNA from both individuals, they were only able to sequence the entire genome from the man's remains because there were gaps in the sequences extracted from the woman's remains. (cnn.com)
- ROCKVILLE, Md. , Aug. 22 /PRNewswire-USNewswire/ -- A research team co-led by scientists from the J. Craig Venter Institute (JCVI) and the Institute for Genome Sciences (IGS), University of Maryland School of Medicine , today published the sequence and analysis of the castor bean ( Ricinus communis ) genome in Nature Biotechnology . (prnewswire.com)
- Another meaningful measure is the sequence compositional complexity (SCC), which has been used for genome structure comparisons. (bvsalud.org)
Sequences1
- Broad Genomics Platform sequences a whole human genome every four minutes. (broadinstitute.org)
Genomics2
- Canada's Michael Smith Genome Sciences Centre (GSC) at BC Cancer is an international leader in genomics, proteomics and bioinformatics for precision medicine. (bcgsc.ca)
- While the castor bean genome is the first to be sequenced and published from this family, the jatropha genome has been sequenced by JCVI and the company Synthetic Genomics Inc. Jatropha is also an oilseed crop. (prnewswire.com)
Genomic1
- However, only a few reports are available on the genomic information of S. alopecuroides, especially the chloroplast genome, which greatly limits the study of the evolutionary relationship between other species of Papilionoideae. (who.int)
Species5
- Here, we present a first de novo genome of the species and test its potential in phylogenomics and cancer research. (biomedcentral.com)
- To do so, we constructed a multi-species coalescent tree from fragments of a whole-genome alignment and quantified the amount of introgression in the early evolution of rorquals. (biomedcentral.com)
- An analysis in Genome Biology compares the lengths of proteins across more than 2,300 species, finding similar length distributions. (genomeweb.com)
- As the genome carries the historical information of a species' biotic and environmental interactions, analyzing changes in genome structure over time by using powerful statistical physics methods (such as entropic segmentation algorithms , fluctuation analysis in DNA walks, or measures of compositional complexity) provides valuable insights into genome evolution. (bvsalud.org)
- Lastly, we review the recent genome comparisons in species of the ancient phylum Cyanobacteria , conducted by phylogenetic regression of SCC against time , which have revealed positive trends towards higher genome complexity. (bvsalud.org)
Scientists4
- International team of scientists deciphers renowned composer's genome from locks of hair. (eurekalert.org)
- Ludwig van Beethoven's genome has been sequenced for the first time by an international team of scientists using five genetically matching locks of the well-known composer's hair. (eurekalert.org)
- Scientists from the Pan-Cancer Analysis of Whole Genomes (PCAWG) project have released unprecedented data from their analyses of mutational events of more than 2600 cancer genomes. (medscape.com)
- Scientists have successfully sequenced the genome of a man who died after the eruption of Mount Vesuvius in 79 AD for the first time. (cnn.com)
Researchers6
- Researchers hope that future genome-wide association studies will identify additional SNPs associated with chronic diseases and drug effects. (medlineplus.gov)
- Researchers can use information learned from genome-wide association studies to predict more accurately which prevention and treatment strategies will work in which groups of people, an important step in precision medicine . (medlineplus.gov)
- In one study, researchers mapped the regions of the genome that control resistance to gastrointestinal nematode parasites in a sheep population bred by ILRI. (usda.gov)
- Working with Addgene, Broad Institute has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries. (broadinstitute.org)
- Researchers from Texas A&M University, the National Museum of Natural History's Smithsonian Institution, and elsewhere put together a draft genome assembly for a colugo representative from West Java, in an effort to resolve the creature's place in the animal family tree. (genomeweb.com)
- In this way, interested researchers can use T2T isochore data, as well as the annotations for different genome elements , to check a specific hypothesis about genome structure. (bvsalud.org)
Biology1
- The study of genome structure involves interaction between various disciplines including cell biology, molecular physics, biomechanics and bioinformatics, as well as access to a wide range of expensive equipment such as electron microscopes, supercomputers, and scanners for simultaneous profiling of RNA expression across the whole genome. (news-medical.net)
Chromosome1
- A description of a specific chromosome that uses defined mutations --specific deleted areas in the genome-- as 'biochemical signposts,' or markers for specific areas. (theodora.com)
Data5
- Reference data, which are mandatory to interpret individual genomes, are steadily improving. (eurekalert.org)
- For more technical information, the NCBI's Database of Genotypes and Phenotypes (dbGaP) contains data from genome-wide association studies. (medlineplus.gov)
- Assembling an accurate portrait of the cancer genome using just the exome data is like putting together a 100,000 piece jigsaw puzzle when you're missing 99% of the pieces and there is no picture box with the completed picture to guide you," he said. (medscape.com)
- Subscribers to this list will receive emails about new and updated genomes, data, and software. (google.com)
- Genome Graphs is a tool for displaying genome-wide data sets such as the results of genome-wide SNP association studies, linkage studies and homozygosity mapping. (ucsc.edu)
Findings1
- These findings provide the first evidence for a driven progressive evolution of genome compositional structure. (bvsalud.org)
Molecular2
- Their genomes have been used to investigate their complex evolutionary history and to decipher the molecular mechanisms that allowed them to reach these dimensions. (biomedcentral.com)
- Critically evaluate how genome instability contributes to human diseases at a molecular level. (bangor.ac.uk)
Analysis2
- They will also write a critical analysis of an external seminar, focusing on the latest development in an important area in genome stability research. (bangor.ac.uk)
- Analysis of the genome has shed light on the genetic diversity of the human population that lived on the Italian Peninsula, when Pompeii was destroyed nearly 2,000 years ago. (cnn.com)
Regions2
- They catalogued and assembled a broad and comprehensive portrait of cancer-related mutations in both the coding and the noncoding regions of the genome across 38 major tumor types and applied this information to determine the biologic pathways that are implicated. (medscape.com)
- Takes you to a page with a list of all regions above the significance threshold on the left, and a Genome Browser on the right. (ucsc.edu)
Biological1
- Similarly to other levels of biological organization , a hierarchical compositional structure is prevalent in the genome . (bvsalud.org)
Draft1
- The Broad Institute has completed a deep coverage (7x) draft of the rabbit genome. (broadinstitute.org)
Content1
- The distribution of segment G+C content has recently been proposed as a new genome signature that proves to be useful for comparing complete genomes . (bvsalud.org)
Study1
- Because genome-wide association studies examine SNPs across the genome, they represent a promising way to study complex, common diseases in which many genetic variations contribute to a person's risk. (medlineplus.gov)
Project1
- Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. (bvsalud.org)
Mutations2
- About five driver mutations were identified across each cancer genome (5% had no driver mutations). (medscape.com)
- Most driver mutations were found to be in the coding-region of the genome. (medscape.com)
Resistance1
- ARS geneticist Tad Sonstegard, here preparing to load a genome analyzer, leads an international team that has found genetic resistance to a parasitic nematode that infects sheep and causes significant economic and production losses in Africa each year. (usda.gov)
Cancer1
- Together, we apply our knowledge to advance the global understanding of cancer and other diseases with an ultimate aim toward improving human health through disease prevention, the development of novel diagnostic strategies and by uncovering new therapeutic approaches, all the while helping the world to realize the social and economic benefits of genome research . (bcgsc.ca)
Genetics1
- That's what led me by the nose to genetics-because if you're going to focus on something, the best lens to use initially is human genetics, and from human genetics to IPSC and the genome editing tools that we use today in the lab. (medscape.com)
Assemblies1
- The Genome Reference Consortium works to improve reference assemblies for human and select model organisms. (slideshare.net)
Examine1
- The OvineSNP50 is a powerful tool that can examine more than 50,000 locations in the genome. (usda.gov)
Complete1
- Here, we report the complete chloroplast genome of S. alopecuroides. (who.int)
Structure2
- Compositional Structure of the Genome: A Review. (bvsalud.org)
- Once the compositional structure of a genome is identified, various measures can be derived to quantify the heterogeneity of such structure. (bvsalud.org)
Research4
- The National Human Genome Research Institute provides a detailed explanation of genome-wide association studies . (medlineplus.gov)
- In addition, the National Human Genome Research Institute and the European Bioinformatics Institute jointly provide a Catalog of Published Genome-Wide Association Studies . (medlineplus.gov)
- Genome Notes for each completed reference genome are published on the Tree of Life Programme's gateway on the Wellcome Open Research website. (sanger.ac.uk)
- Dr. Chan stated, "The availability of the castor bean genome will encourage more research into the positive aspects of this oilseed crop as a potential biofuel. (prnewswire.com)
Association studies3
- What are genome-wide association studies? (medlineplus.gov)
- Through genome-wide association studies, individual SNPs are identified that account for only a small percentage of disease risk. (medlineplus.gov)
- They also provide a list of genome-wide association studies that are accepting (or will accept) participants. (medlineplus.gov)
Important1
- The availability of the castor bean genome also has important biodefense implications since the plant produces the powerful toxin, ricin. (prnewswire.com)