Chromosome point mutation. Medical search. Frequent questions

Styrene-7,8-oxide induces mutations in bacteria, yeast, insects, and cultured mammalian cells and clastogenic activity (chromosomal aberrations or sister chromatid exchanges) in Chinese hamster V79 cells, Chinese hamster ovary cells, mouse bone marrow cells in vivo , and cultured human lymphocytes. (nih.gov)
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (medlineplus.gov)
One of the best points of attack is the mutation process itself, including gene mutations, larger chromosomal mutations, and genome mutations, such as losses or gains of entire chromosomes. (nih.gov)
Experimental techniques used in animal testing are described based on induction of premutational lesions, point mutations and chromosomal changes. (cdc.gov)

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. (wikipedia.org)
Mice genetically engineered to lack a specific segment of genetic material on Chromosome 22, a known cause of schizophrenia, like patients with the disorder, faltered at such working memory tasks because of poor functional connections between the brain's executive and memory hubs. (nih.gov)
It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subjected to genomic imprinting. (bharatbook.com)
Using special dyes to stain the chromosomes of neurons from mouse embryos and adult mice, McConnell hoped to find that the neurons had undergone the same type of genetic rearrangement seen in immune cells, yielding diversity rather than the perfect copies most researchers would have expected. (technologyreview.com)
At the time, scientists seeking to understand the biology of mental illness were mainly looking for genetic mutations that had occurred near the moment of conception and thus were reflected in all of a person's cells. (technologyreview.com)
There are many mechanisms that give rise to genomic change: while point mutations are often emphasized in genomic analyses, evolution acts upon many other types of genetic changes that can result in less subtle perturbations. (stanford.edu)
Mutations in isoleucyl-tRNA synthetase ( IARS1 ) have recently been reported to be a genetic cause for growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH). (springer.com)
11 Moreover, we recently discovered that NPM1 is mutated in about one-third of adult patients with acute myeloid leukemia (AML), 12 which makes NPM1 mutations the most frequent genetic lesions so far identified in de novo AML. (haematologica.org)

Through a slightly different approach, the researchers also uncovered more than 100 regions with significant local mutations, including exons of the known cancer genes TP53, CTNNB1, and NFE2L2. (genomeweb.com)
IARS1 is located on chromosome 9q22.31 and consists of 34 exons. (springer.com)
The NPM1 gene contains 12 exons 14 and in humans maps to chromosome 5q35. (haematologica.org)

For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (nih.gov)
GCCs will utilize novel high-throughput, high resolution technologies to comprehensively (i.e., genome-wide) detect genomic, epigenomic and transcriptome aberrations including: alterations in chromosome segment copy numbers, translocations, loss of heterozygosity, altered DNA methylation patterns and changes in gene expression, which may play a role in cancer. (nih.gov)
For a much more extensive list see the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer . (cancer-genetics.org)

Copy number alteration (CNA) and structural variation (SV) are two of the key classes of somatic mutations in cancer with approximately 90% of tumors undergoing significant rearrangement [ 1 ]. (biorxiv.org)
While most of these signatures were highly similar to those listed in the Catalog of Somatic Mutations in Cancer, one signature dubbed W6 - characterized by T to A mutations - appeared to be a new signature. (genomeweb.com)

7. Additional chromosome abnormalities, BCR-ABL tyrosine kinase domain mutations and clinical outcome in Hungarian tyrosine kinase inhibitor-resistant chronic myelogenous leukemia patients. (nih.gov)
It was also known that a mutation in the suspect site on chromosome 22, called 22q11.2, boosts schizophrenia risk 30-fold and also causes other abnormalities . (nih.gov)
Chromosome abnormalities are common in the human population, causing germ cell loss at meiotic prophase I and infertility. (crick.ac.uk)
Here we investigate the contribution of these lesions to oocyte elimination in mice with chromosome abnormalities, e.g. (crick.ac.uk)
A similar mechanistic basis for oocyte loss may operate in humans with chromosome abnormalities. (crick.ac.uk)

The studies targeted by this program announcement are expected to identify and characterize the relevant genes, determine their function in normal human reproduction and reproductive development, identify functional partners and the nature of their interactions, and further our understanding of the multiple adverse health consequences of mutations or dysregulation of these genes. (nih.gov)
The researchers plan to follow up with studies into how the mutation affects brain anatomical and molecular connections and the workings of affected genes. (nih.gov)
We also identified a novel staphylococcal cassette chromosome (SCC) mec V subtype harboring clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated genes ( cas ). (cdc.gov)
Assessment of DNA damage response to plasma levels of formaldehyde in chicken DT40 and colorectal cancer (RKO) cells with targeted mutations in various DNA repair genes. (europa.eu)
Sometimes copies of genes are accidentally added or lost, which-unlike the reshuffling within chromosomes that's beneficial in the immune system-was thought to be a hugely damaging mistake. (technologyreview.com)
A handful of other genes have also been scrutinized as possible culprits, and one study of the whole human genome pointed to more than 120 different places where mutations seemed to heighten the risk of the disease. (technologyreview.com)
Not surprisingly, mutations in E3 ligase genes have been observed in multiple neurological conditions. (frontiersin.org)
Alpha thalassemia is caused by deletions of alpha-globin genes, and beta thalassemias are caused by a point mutation in splice site and promoter regions of the beta-globin gene on chromosome 11. (kembrel.com)
Some 25 genes - including TP53, ARID2, RB1, and HNF4A - had a significant number of protein-altering mutations, and 14 of the 25 were enriched for loss-of-function mutations, indicating genes that help suppress tumors. (genomeweb.com)
When they folded together their data on point mutations, indels, structural variations and copy number alterations, the researchers found 38 genes that harbored a significantly large number of mutations. (genomeweb.com)
Pro" supports four types: bitvector Individuals/chromosomes of this type have genes that are bits. (nluug.nl)

In addition to clinico-pathological high-risk groups, patients with KIT mutations, genomic complexity, genomic gains and deletions at either 1p or 22q showed a significantly shorter disease-free survival. (nih.gov)
The testing was performed, without the knowledge and consent of workers, to detect mutations and deletions associated with HNPP and FAP. (cdc.gov)
These include maternal deletion, paternal uniparental disomy, imprinting defects, point mutations or small deletions within the UBE3A gene, which lies within this region. (bharatbook.com)

There can also be replication errors that lead to substitution, insertion, or deletion mutations. (wikipedia.org)
A report of three patients with an interstitial deletion of chromosome 15q24. (medlineplus.gov)
Importantly, deletion or point mutation of H2afx restores oocyte numbers in XO females to wild type (XX) levels. (crick.ac.uk)

MMS21 encodes a SUMO E3 ligase and an essential component of the Smc5/6 complex, involved in sister chromatid cohesion, chromosome segregation, and DNA repair. (stanford.edu)
The accurate segregation of chromosomes during meiosis-which is critical for genome stability across sexual cycles-relies on homologous recombination initiated by DNA double-strand breaks (DSBs) made by the Spo11 protein 1 , 2 . (nature.com)

Point mutations have a variety of effects on the downstream protein product-consequences that are moderately predictable based upon the specifics of the mutation. (wikipedia.org)
These consequences can range from no effect (e.g. synonymous mutations) to deleterious effects (e.g. frameshift mutations), with regard to protein production, composition, and function. (wikipedia.org)
Frame-shift mutations are also possible in start-gain mutations, but typically do not affect translation of the original protein. (wikipedia.org)
Start-loss is a point mutation in a transcript's AUG start codon, resulting in the reduction or elimination of protein production. (wikipedia.org)
A missense mutation changes a codon so that a different protein is created, a non-synonymous change. (wikipedia.org)
A silent mutation does not affect the functioning of the protein. (wikipedia.org)
The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. (mdpi.com)
The NF2 gene is identified on chromosome 22q12, which encodes for merlin, a tumor suppressor protein related to ezrin-radixin-moesin that modulates the activity of PI3K/AKT, Raf/MEK/ERK, and mTOR signaling pathways. (mdpi.com)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
Using a panel of 23 urothelial carcinoma cell lines, Borah, Xi, Zaug, and colleagues found that cells harboring TERT promoter mutations often exhibited an increase in TERT mRNA and protein levels. (aacrjournals.org)
Mutations that weaken protein-DNA interactions strongly disrupt both condensate formation and DSBs in vivo, and thus these processes are highly correlated. (nature.com)
Both mutants were mapped to a region on chromosome 11 containing the peripheral myelin protein 22 gene (Pmp22). (ox.ac.uk)
The first mutation, H12R, alters the same amino acid as in the severe human peripheral neuropathy Dejerine Sottas syndrome and Y153TER in the other mutant truncates the Pmp22 protein by seven amino acids. (ox.ac.uk)

Missense mutations code for a different amino acid. (wikipedia.org)
For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta-hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid. (wikipedia.org)
These are both examples of a non-conservative (missense) mutation. (wikipedia.org)

Mitochondrial mutations can be used to retrace the common maternal lineage of modern humans and to determine our relationship to the extinct hominid Neandertal. (geneticorigins.org)

Styrene-7,8-oxide induced mutations at the hprt locus in Chinese hamster V79 cells and in human T lymphocytes. (nih.gov)
Mapping the mutated locus revealed that the old12 phenotype is caused by a mutation in the Lectin Receptor Kinase P2-TYPE PURINERGIC RECEPTOR 2 ( P2K2 ) gene. (biomedcentral.com)
A common haplotype spanning the AIRE-1 locus was found in chromosomes that carried the 964del13 mutation, suggesting a founder effect in our population. (nih.gov)

this sensitivity correlates with the accumulation of chromatid-type chromosome breakage and radial structure formation. (europa.eu)

TERT promoter mutations correlate with high TERT and telomerase reactivation in urothelial cancer. (aacrjournals.org)
Elevated TERT expression, rather than TERT promoter mutations, may be a better prognostic marker. (aacrjournals.org)
Point mutations in the promoter of the telomerase reverse transcriptase ( TERT ) gene, which encodes the catalytic subunit of telomerase, frequently occur in various types of cancer, including melanoma and urothelial carcinoma, resulting in the formation of ETS transcription factor binding sites that may promote increased TERT transcription. (aacrjournals.org)
This increase in TERT expression was strongly associated with elevated telomerase enzymatic activity and longer telomere lengths in urothelial carcinoma cell lines with TERT promoter mutations. (aacrjournals.org)
In addition, although not all mutant cells exhibited increased telomerase activity, the cell lines with the highest TERT expression and telomerase activity harbored TERT promoter mutations. (aacrjournals.org)
Importantly, analysis of two independent patient cohorts revealed that increased TERT mRNA expression correlated with decreased disease-specific survival in urothelial carcinoma, suggesting that TERT expression levels may represent a better prognostic biomarker than TERT promoter mutations. (aacrjournals.org)
These findings support the notion that TERT promoter mutations result in high-level TERT reactivation in urothelial carcinoma, and suggest that targeted inhibition of telomerase may be beneficial in urothelial tumors with increased telomerase activity. (aacrjournals.org)
TERT promoter mutations and telomerase reactivation in urothelial cancer. (aacrjournals.org)
A number of noncoding elements like the TERT promoter were also enriched for mutations, according to the researchers. (genomeweb.com)
TERT promoter mutations, they added, were more common in hepatocellular carcinomas than in intra-hepatic cholangiocarcinomas. (genomeweb.com)

1. Drug resistance and BCR-ABL kinase domain mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia from the imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement. (nih.gov)
2. Prevalence and dynamics of bcr-abl kinase domain mutations during imatinib treatment differ in patients with newly diagnosed and recurrent bcr-abl positive acute lymphoblastic leukemia. (nih.gov)
4. BCR-ABL kinase domain mutations in tyrosine kinase inhibitors-naïve and -exposed Southeast Asian chronic myeloid leukemia patients. (nih.gov)
6. Dasatinib: a tyrosine kinase inhibitor for the treatment of chronic myelogenous leukemia and philadelphia chromosome-positive acute lymphoblastic leukemia. (nih.gov)
9. Kinase domain mutations of BCR-ABL frequently precede imatinib-based therapy and give rise to relapse in patients with de novo Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL). (nih.gov)
11. Kinase domain point mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia emerge after therapy with BCR-ABL kinase inhibitors. (nih.gov)
12. Contribution of ABL kinase domain mutations to imatinib resistance in different subsets of Philadelphia-positive patients: by the GIMEMA Working Party on Chronic Myeloid Leukemia. (nih.gov)
15. Resistance to dasatinib in Philadelphia-positive leukemia patients and the presence or the selection of mutations at residues 315 and 317 in the BCR-ABL kinase domain. (nih.gov)

ABSTRACT Approximately 5%-10% of all breast cancers are inherited as the result of germline mutations in the BRCA1 gene. (who.int)

Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for the pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations are frequent and presumably required for tumor progression. (nih.gov)
We report an overall mutation frequency of 87.5%, with 76.25% of the tumors showing alterations in KIT and 11.25% in PDGFRA. (nih.gov)

Alu Insertion Polymorphism detects the presence or absence of a "jumping gene" on chromosome 16. (geneticorigins.org)

We were impressed to find evidence of recurrent lncRNA mutations in people with autism. (stanford.edu)
As they reported in Nature Genetics today , they uncovered mutational signatures linked to carcinogenesis and recurrent mutations in both coding and noncoding regions. (genomeweb.com)
The researchers also reported a number of recurrent mutations. (genomeweb.com)
They further homed in on four consecutive regions on chromosome 18 with recurrent mutations. (genomeweb.com)
These recurrent mutations were present in 25 samples, as well as in 10 percent of samples from another liver cancer cohort and in two HCC cell lines. (genomeweb.com)

Despite the critical and interrelated role of SV and CNA in tumorigenesis [ 2 ], the mechanisms driving and consequences of genomic rearrangements in cancer are less well understood than for point mutation events, and less frequently used as biomarkers for clinical purposes. (biorxiv.org)
However, Nakagawa and his colleagues noted, the consequences of this mutation are unclear. (genomeweb.com)

5. Management of Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). (nih.gov)

The higher residence time in heterochromatin and chromosomes, compared with euchromatic regions, correlates with an increased phosphorylation level of HMGA1a. (biologists.com)

Telomerase is a ribonucleoprotein enzyme that plays a critical role in maintaining the stability of chromosome ends and is reactivated in the majority of human cancers to facilitate uncontrolled tumor cell proliferation. (aacrjournals.org)

Toutefois, après une étude plus approfondie des cas ayant des parentes au premier et second degré touchées, nous avons observé une différence significative entre le pourcentage de patientes positives pour les grands réarrangements génomiques sur le gène BRCA1 et celui des patientes dont les analyses étaient négatives en la matière. (who.int)
First of all, it is inconceivable to me how scientists can continue to use the 3x slower "evolutionary mutation rate" for their analyses of Y-chromosome ages on the basis of Y-STR markers. (blogspot.com)
These comprehensive and integrative analyses show that [structural variants] and noncoding mutations have biological relevance and affect gene expression and regulatory functions," the authors wrote in their paper. (genomeweb.com)

1-Ethinylcyclohexanol did not reveal any indication for mutagenicity in the Ames test or in a gene mutation test in cultured mammalian cells (HGPRT assay). (europa.eu)

Although the disorder is thought to be 70 percent heritable, its genetics are dauntingly complex , except in certain rare cases, such as those traced to the mutation in question. (nih.gov)

They also noted regions upstream of the coding regions of TERT, WDR74, and MED16 had significant mutations. (genomeweb.com)

3. Dasatinib in imatinib-resistant Philadelphia chromosome-positive leukemias. (nih.gov)

Conservative mutations result in an amino acid change. (wikipedia.org)
Non-conservative mutations result in an amino acid change that has different properties than the wild type. (wikipedia.org)

As suspected, the mice with the chromosome 22 mutation faltered on all counts -- showing much worse synchrony, learning and performance levels than control mice. (nih.gov)

He was doing some seminal work at that point in the field of carcinogenesis and so the opportunity to work with him was very attractive. (nih.gov)

Point mutations may arise from spontaneous mutations that occur during DNA replication. (wikipedia.org)
There are multiple ways for point mutations to occur. (wikipedia.org)
This mutation was found to occur de novo in one affected subject. (nih.gov)
NPM1 mutations occur specifically in about 30% of adult de novo AML and cause aberrant cytoplasmic expression of NPM (hence the term NPMc+ AML). (haematologica.org)

Point mutations usually take place during DNA replication. (wikipedia.org)

Nonsense mutations include stop-gain and start-loss. (wikipedia.org)

Alpha-1 Protease Inhibitor Deficiency epidemiology is segmented by Prevalent and Diagnosed cases of Alpha-1 Protease Inhibitor Deficiency, Cases of Alpha-1 Protease Inhibitor Deficiency by Mutation Types and Alpha-1 Protease Inhibitor Deficiency cases by Clinical Manifestations. (bharatbook.com)
In order to address this phenotype gap, we have embarked on a genome-wide, phenotype-driven, large-scale N-ethyl-N--nitrosourea (ENU) mutagenesis screen for dominant mutations of clinical and pharmacological interest in the mouse. (ox.ac.uk)

Mutations in isoleucyl-tRNA synthetase (IARS1 OMIM # 600709) have been linked to growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH, OMIM 617093), which was first reported by Kopajtich et al. (springer.com)

Most commonly, a point mutation causes the substitution of arginine for glycine (G380R) in the transmembrane region of the receptor. (nih.gov)

To satisfy SIDS ecotoxicity and human health effects data requirements that relied on animal data (end points), a chemical sponsor could either submit existing animal test results or conduct new animal tests. (nih.gov)
Cytogenic analysis, urinalysis for mutagen detection, sperm analysis for morphological changes, and Y-chromosome nondisjunction analysis are discussed as test procedures for studies in human subjects. (cdc.gov)
This site provides biochemical methods and computer tools to allow students to use their own DNA "fingerprints" as a starting point in the study of human evolution. (geneticorigins.org)
I have done my small part in my Y-STR series to show that this mutation rate is applicable only for a rather specific demographic history, and completely unsuitable to real growing human populations where Y-STR variance accumulates at close to the genealogical rate. (blogspot.com)
After introducing "Darwin's formula" Buskes move on to make the point that human beings are highly cultural animals, very different in this from pretty much any other species on earth (he refers to culture as a " major transition in evolution ," a popular term these days, though one that has a bit too much of a teleological flavor for my taste). (berfrois.com)

Further molecular characterization determined that these isolates all contained staphylococcal cassette chromosome (SCC) mec V, were negative for Panton-Valentine leukocidin, and were closely related by macrorestriction analysis with the restriction enzyme Cfr91 . (cdc.gov)
The high frequency of the 964del13 allele and the clustering of the other AIRE-1 mutations may allow rapid molecular screening for APS1 in British kindreds. (nih.gov)

I have just gone through bilateral breast cancer surgery and in the process had the gene mutation testing completed. (cancer.org)
I discovered that I carry a BRIP1 gene mutation which research says puts me at a high risk for ovarian cancer. (cancer.org)
Is worrying about the side effects ridiculous in the face of a gene mutation that increases my risk of ovarian cancer? (cancer.org)
L'amplification multiplex de sonde nucléique dépendant des ligatures nous a permis de mettre en évidence des réarrangements sur le gène BRCA1 dans 4 cas sur 22 (18,2 %) de cancer du sein familial. (who.int)

It was designed to operate as fast as possible even on very large populations and big individuals/chromosomes. (nluug.nl)

RÉSUMÉ Des mutations germinales sur le gène BRCA1 sont responsables d'environ 5 à 10 % de tous les cancers du sein. (who.int)

Most proteins can withstand one or two point mutations before their function changes. (wikipedia.org)
HMGA1-GFP proteins localize preferentially to heterochromatin and remain bound to chromosomes during mitosis. (biologists.com)
For a more-detailed investigation on the interaction of HMGA1a with chromatin, the contribution of the AT-hook DNA-binding motifs was analyzed using point-mutated HMGA1a-GFP proteins. (biologists.com)
Unexpectedly, we find that asynapsed supernumerary chromosomes do not elicit prophase I loss, despite being enriched for γH2AFX and other checkpoint proteins. (crick.ac.uk)

In this study we investigate the spectrum of adaptive mutations that arise in a population under consistently fluctuating nitrogen conditions. (stanford.edu)

however, previous studies have not found a correlation between these mutations and patient outcome in urothelial carcinoma, and the effect of these mutations on telomerase function remains poorly understood. (aacrjournals.org)

Paths to adaptation under fluctuating nitrogen starvation: The spectrum of adaptive mutations in Saccharomyces cerevisiae is shaped by retrotransposons and microhomology-mediated recombination. (stanford.edu)

We show that asynapsed chromosomes trigger oocyte elimination at diplonema, which is linked to the presence of phosphorylated H2AFX (γH2AFX). (crick.ac.uk)

The mutation increases the activity of FGFR3, severely limiting bone growth. (nih.gov)

The table of haplogroup frequencies (left) may prove quite useful, but I am fairly disappointed with what appears to be the state of the art in recent published research on Y chromosome variation. (blogspot.com)
European and South Asian Y-chromosomes within various haplogroups using point mutations, and these are not plagued by many of the problems associated with Y-STR variation and its interpretation. (blogspot.com)

Mutations involve the gene encoding fibroblast growth factor receptor 3 (FGFR3), situated on chromosome 4. (nih.gov)

Furthermore, the prevalence of the 964del13 AIRE-1 mutation may have implications in the pathogenesis of the more common autoimmune endocrinopathies in our population. (nih.gov)

Our findings pinpoint a specific circuit and mechanism by which a mutation produces a core feature of the disorder," said Gordon, who led the research. (nih.gov)

However, as MRD measures treatment response, it is protocol dependent, and MRD time points and thresholds need to be carefully assessed for each type of protocol. (haematologica.org)
type This defines the type of chromosomes. (nluug.nl)

Secondary KIT mutations were additionally found in two of four samples obtained after imatinib treatment. (nih.gov)

Anatomy60

Organisms8

Diseases19

Chemicals and Drugs39

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology1

Phenomena and Processes168

Information Science4

Health Care4

Chromosomal4

Genetic8

Exons3

Aberrations3

Somatic mutations in cancer2

Abnormalities5

Genes11

Deletions3

Deletion3

Segregation2

Protein13

Missense3

Humans1

Locus3

Breakage1

Promoter10

Kinase8

Germline1

Tumors2

Polymorphism1

Recurrent5

Consequences2

Acute lymphobl1

Phosphorylation1

Stability1

Analyses3

Mammalian cells1

Genetics1

TERT1

Leukemias1

Amino2

Mice1

Carcinogenesis1

Occur4

Replication1

Nonsense1

Clinical2

TRNA1

Substitution1

Human5

Molecular2

Cancer4

Populations1

Cancers1

Proteins4

Arise1

Outcome1

Spectrum1

Elimination1

Increases1

Variation2

Receptor1

Prevalence1

Findings1

Type2

Found1