Frameshift mutation. Medical search

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

A directed change in translational READING FRAMES that allows the production of a single protein from two or more OVERLAPPING GENES. The process is programmed by the nucleotide sequence of the MRNA and is sometimes also affected by the secondary or tertiary mRNA structure. It has been described mainly in VIRUSES (especially RETROVIRUSES); RETROTRANSPOSONS; and bacterial insertion elements but also in some cellular genes.

Biochemical identification of mutational changes in a nucleotide sequence.

An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Deletion of sequences of nucleic acids from the genetic material of an individual.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

An individual having different alleles at one or more loci regarding a specific character.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

An individual in which both alleles at a given locus are identical.

Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.

A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).

A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).

Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

Genes that influence the PHENOTYPE only in the homozygous state.

Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

A highly fluorescent anti-infective dye used clinically as a topical antiseptic and experimentally as a mutagen, due to its interaction with DNA. It is also used as an intracellular pH indicator.

Topical antiseptic used mainly in wound dressings.

Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES).

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A characteristic symptom complex.

The magnitude of INBREEDING in humans.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.

A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).

The functional hereditary units of BACTERIA.

The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.

The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.

Any method used for determining the location of and relative distances between genes on a chromosome.

Proteins found in any species of bacterium.

The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

The three possible sequences of CODONS by which GENETIC TRANSLATION may occur from one nucleotide sequence. A segment of mRNA 5'AUCCGA3' could be translated as 5'AUC.. or 5'UCC.. or 5'CCG.., depending on the location of the START CODON.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.

Established cell cultures that have the potential to propagate indefinitely.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

DEFICIENS is a homeotic gene involved in the genetic control of Antirrhinum majus flower development. Its protein is one of the four founder proteins that structurally define the superfamily of MADS DOMAIN PROTEINS.

A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.

The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.

The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.

Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.

One of the two types of ACTIVIN RECEPTORS. They are membrane protein kinases belonging to the family of PROTEIN-SERINE-THREONINE KINASES. The major type II activin receptors are ActR-IIA and ActR-IIB.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.

Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.

Transport proteins that carry specific substances in the blood or across cell membranes.

The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

DNA present in neoplastic tissue.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.

A serotype of Salmonella enterica that is a frequent agent of Salmonella gastroenteritis in humans. It also causes PARATYPHOID FEVER.

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.

Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.

Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.

Actual loss of portion of a chromosome.

Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.

A hepatic carcinogen whose mechanism of activation involves N-hydroxylation to the aryl hydroxamic acid followed by enzymatic sulfonation to sulfoxyfluorenylacetamide. It is used to study the carcinogenicity and mutagenicity of aromatic amines.

The process by which a DNA molecule is duplicated.

The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.

DNA-dependent DNA polymerases found in bacteria, animal and plant cells. During the replication process, these enzymes catalyze the addition of deoxyribonucleotide residues to the end of a DNA strand in the presence of DNA as template-primer. They also possess exonuclease activity and therefore function in DNA repair.

Congenital absence of or defects in structures of the teeth.

Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).

The sequential set of three nucleotides in TRANSFER RNA that interacts with its complement in MESSENGER RNA, the CODON, during translation in the ribosome.

Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.

Acridines which are substituted in any position by one or more amino groups or substituted amino groups.

In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.

Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

A DNA repair pathway involved in correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. Excinucleases recognize the BASE PAIR MISMATCH and cause a segment of polynucleotide chain to be excised from the daughter strand, thereby removing the mismatched base. (from Oxford Dictionary of Biochemistry and Molecular Biology, 2001)

The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.

Tests of chemical substances and physical agents for mutagenic potential. They include microbial, insect, mammalian cell, and whole animal tests.

Genotypic differences observed among individuals in a population.

Proteins obtained from ESCHERICHIA COLI.

Polyprotein products of a fused portion of retroviral mRNA containing the gag and pol genes. The polyprotein is synthesized only five percent of the time since pol is out of frame with gag, and is generated by ribosomal frameshifting.

The parts of a macromolecule that directly participate in its specific combination with another molecule.

A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.

A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.

The genetic unit consisting of three structural genes, an operator and a regulatory gene. The regulatory gene controls the synthesis of the three structural genes: BETA-GALACTOSIDASE and beta-galactoside permease (involved with the metabolism of lactose), and beta-thiogalactoside acetyltransferase.

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.

Congenital absence of or defects in structures of the eye; may also be hereditary.

Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.

Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.

The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.

A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.

Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

Deoxyribonucleic acid that makes up the genetic material of viruses.

Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).

Cell-surface proteins that bind transforming growth factor beta and trigger changes influencing the behavior of cells. Two types of transforming growth factor receptors have been recognized. They differ in affinity for different members of the transforming growth factor beta family and in cellular mechanisms of action.

DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.

A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.

The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

The functional hereditary units of VIRUSES.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

The meaning ascribed to the BASE SEQUENCE with respect to how it is translated into AMINO ACID SEQUENCE. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons (CODON).

The functional hereditary units of FUNGI.

Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.

Double-stranded nucleic acid molecules (DNA-DNA or DNA-RNA) which contain regions of nucleotide mismatches (non-complementary). In vivo, these heteroduplexes can result from mutation or genetic recombination; in vitro, they are formed by nucleic acid hybridization. Electron microscopic analysis of the resulting heteroduplexes facilitates the mapping of regions of base sequence homology of nucleic acids.

Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)

The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.

Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.

A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.

A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.

Ribonucleic acid that makes up the genetic material of viruses.

A group of alkylating agents derived from mustard gas, with the sulfur replaced by nitrogen. They were formerly used as toxicants and vesicants, but now function as antineoplastic agents. These compounds are also powerful mutagens, teratogens, immunosuppressants, and carcinogens.

An mRNA metabolic process that distinguishes a normal STOP CODON from a premature stop codon (NONSENSE CODON) and facilitates rapid degradation of aberrant mRNAs containing premature stop codons.

Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.

Unsaturated derivatives of PREGNANES.

Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.

Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.

The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.

Transfer RNA modification status influences retroviral ribosomal frameshifting. (1/2000)

The possibility of whether tRNAs with and without a highly modified base in their anticodon loop may influence the level of retroviral ribosomal frameshifting was examined. Rabbit reticulocyte lysates were programmed with mRNA encoding UUU or AAC at the frameshift site and the corresponding Phe tRNA with or without the highly modified wyebutoxine (Y) base on the 3' side of its anticodon or Asn tRNA with or without the highly modified queuine (Q) base in the wobble position of its anticodon added. Phe and Asn tRNAs without the Y or Q base, respectively, stimulated the level of frameshifting, suggesting that the frameshift event is influenced by tRNA modification status. In addition, when AAU occurred immediately upstream of UUU as the penultimate frameshift site codon, addition of tRNAAsn without the Q base reduced the stimulatory effect of tRNAPhe without the Y base, whereas addition of tRNAAsn with the Q base did not alter the stimulatory effect. The addition of tRNAAsn without the Q base and tRNAPhe with the Y base inhibited frameshifting. The latter studies suggest an interplay between the tRNAs decoded at the penulimate frameshift and frameshift site codons that is also influenced by tRNA modification status. These data may be intrepreted as indicating that a hypomodified isoacceptor modulates frameshifting in an upward manner when utilized at the frameshift site codon, but modulates frameshifting in a downward manner when utilized at the penultimate frameshift site codon. (+info)

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (2/2000)

The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the alpha-tropomyosin gene TPM3. The typical form of nemaline myopathy is inherited as an autosomal recessive trait, the locus of which we previously assigned to chromosome 2q21.2-q22. We show here that mutations in the nebulin gene located within this region are associated with the disease. The nebulin protein is a giant protein found in the thin filaments of striated muscle. A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs. We have studied the 3' end of the 20. 8-kb cDNA encoding the Z disc part of the 800-kDa protein and describe six disease-associated mutations in patients from five families of different ethnic origins. In two families with consanguineous parents, the patients were homozygous for point mutations. In one family with nonconsanguineous parents, the affected siblings were compound heterozygotes for two different mutations, and in two further families with one detected mutation each, haplotypes are compatible with compound heterozygosity. Immunofluorescence studies with antibodies specific to the C-terminal region of nebulin indicate that the mutations may cause protein truncation possibly associated with loss of fiber-type diversity, which may be relevant to disease pathogenesis. (+info)

Mutated epithelial cadherin is associated with increased tumorigenicity and loss of adhesion and of responsiveness to the motogenic trefoil factor 2 in colon carcinoma cells. (3/2000)

Epithelial (E)-cadherin and its associated cytoplasmic proteins (alpha-, beta-, and gamma-catenins) are important mediators of epithelial cell-cell adhesion and intracellular signaling. Much evidence exists suggesting a tumor/invasion suppressor role for E-cadherin, and loss of expression, as well as mutations, has been described in a number of epithelial cancers. To investigate whether E-cadherin gene (CDH1) mutations occur in colorectal cancer, we screened 49 human colon carcinoma cell lines from 43 patients by single-strand conformation polymorphism (SSCP) analysis and direct sequencing. In addition to silent changes, polymorphisms, and intronic variants in a number of the cell lines, we detected frameshift single-base deletions in repeat regions of exon 3 (codons 120 and 126) causing premature truncations at codon 216 in four replication-error-positive (RER+) cell lines (LS174T, HCT116, GP2d, and GP5d) derived from 3 patients. In LS174T such a mutation inevitably contributes to its lack of E-cadherin protein expression and function. Transfection of full-length E-cadherin cDNA into LS174T cells enhanced intercellular adhesion, induced differentiation, retarded proliferation, inhibited tumorigenicity, and restored responsiveness to the migratory effects induced by the motogenic trefoil factor 2 (human spasmolytic polypeptide). These results indicate that, although inactivating E-cadherin mutations occur relatively infrequently in colorectal cancer cell lines overall (3/43 = 7%), they are more common in cells with an RER+ phenotype (3/10 = 30%) and may contribute to the dysfunction of the E-cadherin-catenin-mediated adhesion/signaling system commonly seen in these tumors. These results also indicate that normal E-cadherin-mediated cell adhesion can restore the ability of colonic tumor cells to respond to trefoil factor 2. (+info)

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. (4/2000)

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease presents early in life with hypoketotic hypoglycemia or later in life with skeletal myopathy or cardiomyopathy. The gene for this condition maps to 5q31.2-32 and OCTN2, an organic cation/carnitine transporter, also maps to the same chromosomal region. Here we test the causative role of OCTN2 in primary carnitine deficiency by searching for mutations in this gene in affected patients. Fibroblasts from patients with primary carnitine deficiency lacked mediated carnitine transport. Transfection of patient's fibroblasts with the OCTN2 cDNA partially restored carnitine transport. Sequencing of the OCTN2 gene revealed different mutations in two unrelated patients. The first patient was homozygous (and both parents heterozygous) for a single base pair substitution converting the codon for Arg-282 to a STOP codon (R282X). The second patient was a compound heterozygote for a paternal 1-bp insertion producing a STOP codon (Y401X) and a maternal 1-bp deletion that produced a frameshift creating a subsequent STOP codon (458X). These mutations decreased the levels of mature OCTN2 mRNA and resulted in nonfunctional transporters, confirming that defects in the organic cation/carnitine transporter OCTN2 are responsible for primary carnitine deficiency. (+info)

Infrequent translation of a nonsense codon is sufficient to decrease mRNA level. (5/2000)

In many organisms nonsense mutations decrease the level of mRNA. In the case of mammalian cells, it is still controversial whether translation is required for this nonsense-mediated RNA decrease (NMD). Although previous analyzes have shown that conditions that impede translation termination at nonsense codons also prevent NMD, the residual level of termination was unknown in these experiments. Moreover, the conditions used to impede termination might also have interfered with NMD in other ways. Because of these uncertainties, we have tested the effects of limiting translation of a nonsense codon in a different way, using two mutations in the immunoglobulin mu heavy chain gene. For this purpose we exploited an exceptional nonsense mutation at codon 3, which efficiently terminates translation but nonetheless maintains a high level of mu mRNA. We have shown 1) that translation of Ter462 in the double mutant occurs at only approximately 4% the normal frequency, and 2) that Ter462 in cis with Ter3 can induce NMD. That is, translation of Ter462 at this low (4%) frequency is sufficient to induce NMD. (+info)

p53 mutations in human cutaneous melanoma correlate with sun exposure but are not always involved in melanomagenesis. (6/2000)

In melanoma, the relationship between sun exposure and the origin of mutations in either the N-ras oncogene or the p53 tumour-suppressor gene is not as clear as in other types of skin cancer. We have previously shown that mutations in the N-ras gene occur more frequently in melanomas originating from sun-exposed body sites, indicating that these mutations are UV induced. To investigate whether sun exposure also affects p53 in melanoma, we analysed 81 melanoma specimens for mutations in the p53 gene. The mutation frequency is higher than thus far reported: 17 specimens (21%) harbour one or more p53 mutations. Strikingly, 17 out of 22 mutations in p53 are of the C:G to TA or CC:GG to TT:AA transitional type, strongly suggesting an aetiology involving UV exposure. Interestingly, the p53 mutation frequency in metastases was much lower than in primary tumours. In the case of metastases, a role for sun exposure was indicated by the finding that the mutations are present exclusively in skin metastases and not in internal metastases. Together with a relatively frequent occurrence of silent third-base pair mutations in primary melanomas, this indicates that the p53 mutations, at least in these tumours, have not contributed to melanomagenesis and may have originated after establishment of the primary tumour. (+info)

High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. (7/2000)

To determine the contribution of BRCA1 and BRCA2 mutations to the pathogenesis of male breast cancer in Hungary, the country with the highest male breast cancer mortality rates in continental Europe, a series of 18 male breast cancer patients and three patients with gynecomastia was analyzed for germ-line mutations in both BRCA1 and BRCA2. Although no germ-line BRCA1 mutation was observed, 6 of the 18 male breast cancer cases (33%) carried truncating mutations in the BRCA2 gene. Unexpectedly, none of them reported a family history for breast/ovarian cancer. Four of six truncating mutations were novel, and two mutations were recurrent. Four patients (22%) had a family history of breast/ovarian cancer in at least one first- or second-degree relative; however, no BRCA2 mutation was identified among them. No mutation was identified in either of the genes in the gynecomastias. These results provide evidence for a strong genetic component of male breast cancer in Hungary. (+info)

How translational accuracy influences reading frame maintenance. (8/2000)

Most missense errors have little effect on protein function, since they only exchange one amino acid for another. However, processivity errors, frameshifting or premature termination result in a synthesis of an incomplete peptide. There may be a connection between missense and processivity errors, since processivity errors now appear to result from a second error occurring after recruitment of an errant aminoacyl-tRNA, either spontaneous dissociation causing premature termination or translational frameshifting. This is clearest in programmed translational frameshifting where the mRNA programs errant reading by a near-cognate tRNA; this error promotes a second frameshifting error (a dual-error model of frameshifting). The same mechanism can explain frameshifting by suppressor tRNAs, even those with expanded anticodon loops. The previous model that suppressor tRNAs induce quadruplet translocation now appears incorrect for most, and perhaps for all of them. We suggest that the 'spontaneous' tRNA-induced frameshifting and 'programmed' mRNA-induced frameshifting use the same mechanism, although the frequency of frameshifting is very different. This new model of frameshifting suggests that the tRNA is not acting as the yardstick to measure out the length of the translocation step. Rather, the translocation of 3 nucleotides may be an inherent feature of the ribosome. (+info)

A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions ... Frameshift mutations can occur randomly or be caused by an external stimulus. The detection of frameshift mutations can occur ... The flanking DNA can also contribute to frameshift mutations. In prostate cancer a frameshift mutation changes the open reading ... Wikimedia Commons has media related to Frameshift mutation. Frameshift+Mutation at the US National Library of Medicine Medical ...

https://en.wikipedia.org/wiki/Frameshift_mutation

The above mutations cause a frameshift in the gene. A frameshift mutation refers to a condition in which the reading frame of ... "Frameshift Mutation". Genome.gov. Retrieved 2022-03-30. Karakaya, Taner; Bilgic, Ali Evren; Eris, Deniz; Baser, Burak; Mermer, ... Multiple mutations at the CKAP2L gene can cause Filippi Syndrome. Some of these mutations include a 1-base pair duplication in ... This frameshift mutation ultimately results in a premature termination codon (the formation of a termination codon at a ...

https://en.wikipedia.org/wiki/Filippi_syndrome

However, not all indels are frameshift mutations. If indels occur in trinucleotides, the result is an extension of the protein ... or a frameshift mutation that may render the protein inactive. The biological consequences of indels are often deleterious and ... Considering multiple gaps in a sequence as a larger single gap will reduce the assignment of a high cost to the mutations. For ... Genetic sequence alignment - In bioinformatics, gaps are used to account for genetic mutations occurring from insertions or ...

https://en.wikipedia.org/wiki/Gap_penalty

experiment of 1961, which discovered frameshift mutations; this insight provided early elucidation of the nature of the genetic ... "Distribution of proflavin-induced mutations in the genetic fine structure", Nature 182: 983-5. Brenner, S. and Barnett, L. 1959 ...

https://en.wikipedia.org/wiki/Leslie_Barnett

experiment of 1961, which discovered frameshift mutations. Brenner collaborating with Sarabhai, Stretton and Bolle in 1964, ... Hodgkin, JA; Brenner, S (1977). "Mutations causing transformation of sexual phenotype in the nematode Caenorhabditis elegans". ...

https://en.wikipedia.org/wiki/Sydney_Brenner

Multiple mutations are known: the current (2007) total is 79. These include both nonsense and frameshift mutations. Most of the ... Mutations in the ALMS1 gene have been found to be causative for Alström syndrome with a total of 81 disease-causing mutations. ... Mutations associated with disease are usually found in exons 8, 10 and 16. The gene is expressed in fetal tissues including the ... mutations have been found in exons 8,10 and 16. The Jackson Laboratory in Bar Harbor, Maine, USA with the University of ...

https://en.wikipedia.org/wiki/ALMS1

Patient 1 harbors a frameshift mutation (p. Lys335fs) and displays heterotaxy (dextrocardia, total anomalous pulmonary venous ... Two damaging de novo NAA15 mutations were reported by exome sequencing in parent-offspring trios with congenital heart disease ... "De novo mutations in histone-modifying genes in congenital heart disease". Nature. 498 (7453): 220-3. Bibcode:2013Natur.498.. ... the second patient harbors a nonsense mutation (p.S761X) and displays conotruncal defects (tetralogy of Fallot, single left ...

https://en.wikipedia.org/wiki/NAA15

Unless noted as a deletion (del), frame shift (fs), or homozygous mutation, all mutations are heterozygous, missense mutations ... frameshift mutation, insert mutation, or splice site mutation in one of these genes. The most frequent sites for these ... A deletion mutation causing a frameshift viz., c.1622delT: Thr525Leu, is also a cause of the disorder. The fibrinogen bearing ... Two particular missense mutations represent the majority (74% in one study of 101 individuals) of all mutations associated with ...

https://en.wikipedia.org/wiki/Dysfibrinogenemia

forward genetics forward mutation frameshift mutation A type of mutation in a nucleic acid sequence caused by the insertion or ... back mutation A mutation that reverses the effect of a previous mutation which had inactivated a gene, thus restoring wild-type ... lethal mutation Any mutation that results in the premature death of the organism carrying it. Recessive lethal mutations are ... 2. (of a mutation) Not causing a frameshift. isochore A large region of genomic DNA with a relatively homogeneous composition ...

https://en.wikipedia.org/wiki/Glossary_of_genetics_(0–L)

In molecular biology, 2-AF is able to induce frameshift mutations, by deleting 2 bases in the DNA. DNA is able to undergo a ... doi:10.1016/0165-1110(94)90025-6. Hoffmann, George R.; Fuchs, Robert P. P. (1 April 1997). "Mechanisms of Frameshift Mutations ... Mutations ultimately affect the production of proteins and at times, it can be quite fatal. 2-AF is not common in industrial ... If DNA mutations occur during DNA replication, this will ultimately affect the central dogma and every protein that gets ...

https://en.wikipedia.org/wiki/2-Aminofluorene

forward genetics forward mutation frameshift mutation A type of mutation in a nucleic acid sequence caused by the insertion or ... back mutation A mutation that reverses the effect of a previous mutation which had inactivated a gene, thus restoring wild-type ... Though the term "silent mutation" is often used interchangeably with synonymous mutation, synonymous mutations are not always ... Contents: Top 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z de novo mutation A spontaneous mutation in the genome of ...

https://en.wikipedia.org/wiki/Glossary_of_genetics

Cairns, J.; Foster, P. L. (August 1991). "Adaptive Reversion of a Frameshift Mutation in Escherichia Coli". Genetics. 128 (4): ... Substitution bias further increases the likelihood of haplotype convergence, as this increases the probability of mutations ...

https://en.wikipedia.org/wiki/Haplotype_convergence

All ROGDI mutations which include frameshift, nonsense, and splice site mutations cause premature mRNA degradation or protein ... One family had a frameshift mutation called c.366dupA. This duplication that caused the frameshift resulted in a premature stop ... A mutation called c.507delC which is the deletion of a cytosine at position 507 resulted in a nonsense mutation. A nonsense ... mutation is a point mutation that results in a premature stop codon. Five affected families contained the nonsense mutation ...

https://en.wikipedia.org/wiki/Kohlschütter-Tönz_syndrome

... frameshift mutations have also been described in colorectal cancers. In accordance to its role in facilitating p53 ... Yoo NJ, Park SW, Lee SH (December 2011). "Frameshift mutations of ubiquitination-related genes HERC2, HERC3, TRIP12, UBE2Q1 and ... This genotype is present in almost all people with blue eyes and is hypothesised as being the founder mutation of blue eyes in ... In Old Order Amish families, a homozygous proline to leucine missense mutation within the first RLD domain has been implicated ...

https://en.wikipedia.org/wiki/HERC2

1996). "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome". Nat. Genet. 13 (4): 395-6. doi: ... Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype". ... Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are ... 1996). "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype ...

https://en.wikipedia.org/wiki/Endothelin_3

1961: Francis Crick and Sydney Brenner discovered frame shift mutations. In the experiment, proflavin-induced mutations of the ... These mutations were used to demonstrate that three sequential bases of the rIIB gene's DNA specify each successive amino acid ... Proflavin causes mutations by inserting itself between DNA bases, typically resulting in insertion or deletion of a single base ... Genetics, "The hisB463 Mutation and Expression of a Eukaryotic Protein in Escherichia coli", Vol. 180, 709-714, October 2008 [4 ...

https://en.wikipedia.org/wiki/Timeline_of_the_history_of_genetics

Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ (2000). "Novel frameshift mutations ... RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15 ... Wada Y, Nakazawa M, Abe T, Tamai M (2000). "A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked ... Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S (2000). "Mutations in ...

https://en.wikipedia.org/wiki/RP2_(gene)

"Novel frameshift mutations in CRX associated with Leber congenital amaurosis". Human Mutation. 18 (6): 550-1. doi:10.1002/humu. ... Chen S, Wang QL, Xu S, Liu I, Li LY, Wang Y, Zack DJ (Apr 2002). "Functional analysis of cone-rod homeobox (CRX) mutations ... Mutations in this gene are associated with photoreceptor degeneration, Leber's congenital amaurosis type III and the autosomal ... Nakamura M, Ito S, Miyake Y (Sep 2002). "Novel de novo mutation in CRX gene in a Japanese patient with leber congenital ...

https://en.wikipedia.org/wiki/CRX_(gene)

A premature stop codon results from this frame-shift mutation. This variant is found worldwide, and likely predates human ... ABO at BGMUT Blood Group Antigen Gene Mutation Database at NCBI, NIH Encyclopædia Britannica, ABO blood group system National ... Some evolutionary biologists theorize that there are four main lineages of the ABO gene and that mutations creating type O have ...

https://en.wikipedia.org/wiki/ABO_blood_group_system

Frame shifts include insertions, deletions, and mutations. The presence of one of these features, or the presence of multiple ... This relationship is affected by certain sequence features such as frame shifts, direct repeats, and inverted repeats. ...

https://en.wikipedia.org/wiki/Dot_plot_(bioinformatics)

May 2001). "A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease". Nature. 411 (6837): 603-6. ... April 2002). "The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease". ...

https://en.wikipedia.org/wiki/Crohn's_disease

"Cone-rod dystrophy and a frameshift mutation in the PROM1 gene". Molecular Vision. 15: 1709-16. PMC 2732717. PMID 19718270. ...

https://en.wikipedia.org/wiki/CD133

Charest, N. J.; Zhou, Z. X.; Lubahn, D. B.; Olsen, K. L.; Wilson, E. M.; French, F. S. (1991). "A frameshift mutation ... "A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat". The ...

https://en.wikipedia.org/wiki/Kathie_L._Olsen

Poetsch M, Dittberner T, Woenckhaus C (May 2002). "Frameshift mutations of RIZ, but no point mutations in RIZ1 exons in ... Pan KF, Lu YY, Liu WG, Zhang L, You WC (Sep 2004). "Detection of frameshift mutations of RIZ in gastric cancers with ... Kim KC, Geng L, Huang S (Nov 2003). "Inactivation of a histone methyltransferase by mutations in human cancers". Cancer ...

https://en.wikipedia.org/wiki/PRDM2

Some of these are full-length, intact genes; others are pseudogenes (typically with frameshift mutations, premature stop codons ...

https://en.wikipedia.org/wiki/Variant_surface_glycoprotein

"A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy". Hum. Mol. Genet. 21 (2): 358-70. doi: ... Mutations in LRSAM1 have been reported in the peripheral neuropathy Charcot-Marie-Tooth type 2P (OMIM 614436), while disruption ... "A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease". Eur. J. Hum. Genet. 21 (2): ... "Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease". PLOS Genet. 6 (8): ...

https://en.wikipedia.org/wiki/LRSAM1

These mutations are often sporadic, and are either frameshift, missense, and nonsense. Treatment is done on the symptoms the ... March 2015). "Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features". American Journal ... March 2015). "De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly ... This condition is caused by heterozygous mutations in the KAT6A gene, in chromosome 8. ...

https://en.wikipedia.org/wiki/Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome

were also able to correct their frameshift mutations through the use of proflavin. If they had a nonfunctional gene due to a ... The experiment also elucidated the nature of gene expression and frame-shift mutations. In the experiment, proflavin-induced ... Proflavin causes mutations by inserting itself between DNA bases, typically resulting in insertion or deletion of a single base ... mutants produced by Crick and Brenner that could not produce functional rIIB protein were the results of frameshift mutations, ...

https://en.wikipedia.org/wiki/Crick,_Brenner_et_al._experiment

These can range from frameshift mutations, deletion mutations, insertion mutations, and missense mutations. All of which cause ... Due to this mutation, effective levels of very long-chain-acyl-CoA-dehydrogenase are low or absent in the body, giving rise to ... Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase ... The mutations that occur within the gene itself are recessive, meaning that an individual has to acquire both recessive mutated ...

https://en.wikipedia.org/wiki/Very_long-chain_acyl-coenzyme_A_dehydrogenase_deficiency

"Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome". Familial Cancer. 12 (4): 611-4. doi: ... "A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation ...

https://en.wikipedia.org/wiki/PTCH2

... but frameshift and splice-site mutations have also been identified. Several of the nonsense mutations that have led to this ... Mutations that have been identified in CENPF have been mostly nonsense mutations, which result in the protein being cut short ... April 2016). "Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF". Human Mutation. 37 (4): 359-63. doi:10.1002 ... Mutations in CENPF disrupt this ability to form cilia; cilia have been found to be fewer in number and shorter when CENPF is ...

https://en.wikipedia.org/wiki/Strømme_syndrome

1989). "A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of ... 1991). "Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in ... 1993). "Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its ... caused by a new nonsense mutation in the thyroxine-binding globulin gene". Thyroid. 8 (2): 161-5. doi:10.1089/thy.1998.8.161. ...

https://en.wikipedia.org/wiki/Thyroxine-binding_globulin

Other mutations observed include a nonsense mutation, an in-frame deletion of amino acids and an entire gene deletion. De novo ... Variants identified included a premature stop variant in exon 3, frame-shift variants in exon 3 and a frameshift variant in ... Parental DNA has confirmed that de novo mutations are common in patients with ZTTK syndrome. De novo LoF mutations and ... As an autosomal dominant disease, children with parents carrying a SON mutation have a 50% risk of inheriting the mutation. ...

https://en.wikipedia.org/wiki/ZTTK_syndrome

A mutation of this gene (including nonsense, splice site mutation, insertions, frameshift) has been identified as a possible ... Mutations in the above genes account for a total of about 35 percent of cases. Mutations in other genes that have not been ... RAD51 heterozygous mutations, specifically premature termination codons, have been found in many CMM disorder patients through ... Experiments in mice also support the claim that CMM disorder is associated with genetic mutations in DCC. Kanga mice, lacking ...

https://en.wikipedia.org/wiki/Congenital_mirror_movement_disorder

The deletion that affects the protein coding region in humans results in a frameshift mutation in the CMAH gene which codes for ... "A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence". Proceedings of the National Academy of ...

https://en.wikipedia.org/wiki/HCONDELs

Individuals with disruptive mutations (defined as nonsense, splice site, or indel frameshift) in LDLR have an average LDL- ... There are 5 broad classes of mutation of the LDL receptor: Class 1 mutations affect the synthesis of the receptor in the ... When compared with non-carriers, LDLR mutation carriers had higher plasma LDL cholesterol, whereas APOA5 mutation carriers had ... therefore this mutation inhibits LDL internalization. Class 5 mutations give rise to receptors that cannot recycle properly. ...

https://en.wikipedia.org/wiki/LDL_receptor

1997). "The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and ... 2000). "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3". Hum. Genet. 106 (3): 321-9. ... Mutations in the LOR gene are associated with Vohwinkel's syndrome and Camisa disease, both inherited skin diseases. List of ... 2002). "A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome". Clin. Exp. Dermatol ...

https://en.wikipedia.org/wiki/Loricrin

This drug would be effective for ~10% of patients with DMD who have a single mutation in the DMD gene causing a stop codon to ... Marcheschi, Ryan J; Tonelli, Marco; Kumar, Arvind; Butcher, Samuel E (2011). "Structure of the HIV-1 Frameshift Site RNA Bound ... In 2007, Miller and coworkers used dynamic combinatorial chemistry to screen a compound library against HIV-1 frameshift ... "Identification of a Selective Small-Molecule Ligand for HIV-1 Frameshift-Inducing Stem-Loop RNA from an 11,325 Member Resin ...

https://en.wikipedia.org/wiki/RNA-targeting_small_molecule_drugs

May 1998). "A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene". ... Deltas CC (2001). "Mutations of the human polycystic kidney disease 2 (PKD2) gene". Human Mutation. 18 (1): 13-24. doi:10.1002/ ... "A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)". Human ... Mutations in this gene have been associated with autosomal dominant polycystic kidney disease. Polycystin 2 has been shown to ...

https://en.wikipedia.org/wiki/Polycystin_2

April 2019). "Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in ...

https://en.wikipedia.org/wiki/Alkaline_phosphatase

Homozygous frameshift mutation in PTPRF may cause amastia, which suggests the causative relationship between PTPRF defect and ... The most common case is the mutation of EDA1 gene which is in X chromosome, and this mutation results in X-linked form ... Mutation of genes may disrupt the normal process and results in abnormity of breast. The protein tyrosine receptor type F gene ... This mutation could cause various abnormalities, not only amastia, but also deformation of limb and teeth. Cases of unilateral ...

https://en.wikipedia.org/wiki/Amastia

It also features a frame-shift deletion of four nucleotides in ORF3a that generates a stop codon two amino acids. The mutation ... The Mu genome has a total number of 21 mutations, including 9 amino acid mutations, all of which are in the virus's spike ... Amino acid mutations of SARS-CoV-2 Mu variant plotted on a genome map of SARS-CoV-2 with a focus on the spike. August 6: ... Mutations in viruses are not new. All viruses, including SARS-CoV-2, undergo change over time. Most of these changes are ...

https://en.wikipedia.org/wiki/SARS-CoV-2_Mu_variant

DNA Pol II is a high fidelity enzyme with a substitution error rate of ≤ 2×10−6 and a −1 frameshift error rate of ≤ 1×10−6. DNA ... If the Polymerase II is knocked out by a mutation or disabled by other factors, Polymerase IV will take its place to fix the ... De Lucia P, Cairns J (December 1969). "Isolation of an E. coli strain with a mutation affecting DNA polymerase". Nature. 224 ( ... In addition to protecting from mutations that could be caused by Polymerase III, Polymerase II functions to protect against ...

https://en.wikipedia.org/wiki/DNA_polymerase_II

"A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic ... Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal ... Guardiani C, Cecconi F, Livi R (Mar 2008). "Computational analysis of folding and mutation properties of C5 domain of myosin ... interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations ...

https://en.wikipedia.org/wiki/MYBPC2

Although Par-4 mutations are rare, it was identified that an A to T point mutation affecting residue 189 localized in exon 3 ... or insertions leading to frameshifts that alter the protein the gene codes for, increases and decreases in copy-number ... A majority of these mutations in the TP-53 gene are single amino acid changes, but other mutations cause a small portion of the ... Li-Fraumeni Syndrome is a condition linked to inherited mutations, at least 140 mutations, in the TP-53 gene. This condition ...

https://en.wikipedia.org/wiki/Anticancer_gene

Kang MR, Kim MS, Oh JE, Kim YR, Song SY, Kim SS, Ahn CH, Yoo NJ, Lee SH (2009). "Frameshift mutations of autophagy-related ... Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing ...

https://en.wikipedia.org/wiki/ATG9B

A frameshift mutation in ubiquitin B can result in a truncated peptide missing the C-terminal glycine. This abnormal peptide, ... Mutations in VHL prevent degradation of HIF and thus lead to the formation of hypervascular lesions and renal tumors. The BRCA1 ... Mutations in Fbw7 have been found in more than 30% of human tumors, characterizing it as a tumor suppressor protein. Oncogenic ... Mutations that renders the Cbl protein dysfunctional due to the loss of its ligase/tumor suppressor function and maintenance of ...

https://en.wikipedia.org/wiki/Ubiquitin

... scientists have found that there are four genes that have lost their function due to a frameshift mutation or premature stop ...

https://en.wikipedia.org/wiki/Baiji

In mice, a Foxp3 mutation (a frameshift mutation that result in protein lacking the forkhead domain) is responsible for 'Scurfy ... Mutations or disruptions of the Foxp3 regulatory pathway can lead to organ-specific autoimmune diseases such as autoimmune ... These mutations affect thymocytes developing within the thymus. Regulated by Foxp3, it's these thymocytes that during ... It was found that patients who have the autoimmune disease systemic lupus erythematosus (SLE) possess Foxp3 mutations that ...

https://en.wikipedia.org/wiki/FOXP3

However, there has been a recent case of a patient with recessive OI with a documented frameshift mutation in Sp7/Osx as the ... July 2010). "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta". American ... Generally this disease is caused by mutations in Col1a1 or Col1a2 which are regulators of collagen growth. OI-causing mutations ... A mutation in the zebrafish homologue of Sp7 caused severe craniofacial irregularities in maturing organisms while leaving the ...

https://en.wikipedia.org/wiki/Sp7_transcription_factor

In a study of 95 mutations in CCS, 48% were frameshift, 27% were nonsense, 12% were missense, and 11% were splice site ... or large scale mutations that delete most or all of the CYLD gene. All of these mutations are inactivating mutations. The ... Recent studies find many cases of CCS involve mutations that go undetected by this method because they are: 1) mosaic mutations ... Uncommonly, individuals with CCS have deep intronic mutations (i.e. mutations occurring in an intron that is more than 100 base ...

https://en.wikipedia.org/wiki/CYLD_cutaneous_syndrome

... designated as mut0 or a partial mutation in the form of a frameshift designated as mut-. This frameshift affects the folding of ... while patients with a partial mutations have a wide range of symptoms. Over 49 different mutations have been discovered for the ... Ledley FD, Rosenblatt DS (1997). "Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations". Hum. Mutat. 9 ... a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients". Eur. J. Hum. Genet. 9 (8): ...

https://en.wikipedia.org/wiki/Methylmalonyl-CoA_mutase_deficiency

More recently, a specific mutation in the KRT6C gene has been linked to some cases of diffuse NEPPK. A possible polymorphism of ... evidence for expression in the skin and the identification of a frequent frameshift polymorphism". J. Invest. Dermatol. 114 (1 ... Elastase 1 is slightly inhibited above 150 mM NaCl Mutations of the CELA1 gene were suspected to be associated with diffuse ... "Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation". Br. J. Dermatol. 165 (6): 1290-2. doi: ...

https://en.wikipedia.org/wiki/Pancreatic_elastase

1998). "Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus ... Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full ... "Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico". Nat ...

https://en.wikipedia.org/wiki/HPS3

Nonsense, frameshift, splice-site and missense mutations in this region can result in patients with X-linked cleft palate (CPX ... or frame shift sequence changes, while missense mutations in this region have less of a structural effect on the protein, but ... October 2007). "TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and ... its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The ...

https://en.wikipedia.org/wiki/Abruzzo–Erickson_syndrome

1998). "Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus ... 2000). "Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes". Br. J. Dermatol. 143 (3): ... Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct ... 2002). "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat. Genet. ...

https://en.wikipedia.org/wiki/HPS1

This leads to a frameshift mutation in Foxp3 gene and the expressed protein is truncated, causing functional deficiency of Treg ... A large variety of mutations have been found, including single base substitutions, deletions, and splicing mutations. A ... Mutation of FOXP3 leading to expression of malfunctioning protein is often localized in the DNA-binding domain called the ... For example, in 2010 there were only 20 mutations of FOXP3 known in the literature. FOXP3 can function as both a repressor and ...

https://en.wikipedia.org/wiki/IPEX_syndrome

Hansell Stedman, that a frameshift mutation shrank the individual muscle fibers of the temporalis muscle, which attached to the ... "Myosin gene mutation correlates with anatomical changes in the human lineage". Nature. 428 (6981): 415-418. Bibcode:2004Natur. ...

https://en.wikipedia.org/wiki/Sagittal_crest

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome ... A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome ... Results: We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch ... We estimate that there are ,10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the ...

https://jmg.bmj.com/content/45/6/340

AA mutation. p.K1691Nfs*15 (Deletion - Frameshift) CDS mutation. c.5073del (Deletion) Nucleotides inserted. n/a Genomic ... Genomic Mutation ID Genomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. This ... It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation ... Legacy mutation identifier (COSM) represents existing COSM mutation identifiers. This identifier remains the same between ...

https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=116268222&merge=6048457

... ... Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality ... This report contributes to the phenotypic knowledge of male patients with MECP2 mutations. Moreover, this is the first reported ... However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like ...

https://repository.ubn.ru.nl/handle/2066/166912

A missense mutation results in a codon change, which leads to a change in amino acids. ... A silent mutation is a codon mutation, which does not result in a change of amino acid. ... a-definition-and-an-example-of-each-of-the-following-mutations-silent-nonsense-missense-and-frameshift-mutation-aug-gug-cca-uuc ... a-definition-and-an-example-of-each-of-the-following-mutations-silent-nonsense-missense-and-frameshift-mutation-aug-gug-cca-uuc ...

https://academic.tips/question/using-the-following-mrna-sequence-provide-a-definition-and-an-example-of-each-of-the-following-mutations-silent-nonsense-missense-and-frameshift-mutation-aug-gug-cca-uuc-aau-aug-ugg/

... a case report with novel frameshift mutation in COL5A1 ... This novel frameshift mutation may disturb the structural ... Ehlers-Danlos syndrome classical typeCollagen type V alpha-1 chain (COL5A1) geneCOL5A1 frameshift mutationCollagen type V ... This novel frameshift mutation and its phenotype correlation can provide useful information for practitioners about early ... Subsequently, the diagnosis of classical EDS was made by identifying a novel frameshift mutation in COL5A1 [NM_000093.4:c.4211_ ...

https://springernature.figshare.com/collections/Classic_Ehlers_Dalnos_syndrome_presenting_as_atypical_chronic_haematoma_a_case_report_with_novel_frameshift_mutation_in_COL5A1/5188708/1

A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome. Indian Journal of Cancer. 2018 Oct; 55(4): 410- ... A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome. ... A novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history ... The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to ...

https://imsear.searo.who.int/handle/123456789/190400

Gap junction plaques were present in all groups and were only compromised in frameshift mutant. Further evidence reveals ... Gap junction-plaques were present in all groups and was only compromised in frameshift mutant., Further evidence reveals ... is the second most common form of inherited peripheral neuropathy that is caused by mutations in the gap junction beta-1 (GJB1 ... is the second most common form of inherited peripheral neuropathy that is caused by mutations in the gap junction beta-1 (GJB1 ...

https://www.frontiersin.org/articles/10.3389/fnins.2022.972288/full

Frameshift Mutation * Homozygote * Humans * Induced Pluripotent Stem Cells* / metabolism * Male * Sertoli Cell-Only Syndrome ... A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived ...

https://pubmed.ncbi.nlm.nih.gov/36153567/?utm_source=WordPress&utm_medium=rss&utm_campaign=None&utm_content=1nASi37tjavVgwsXmk5YUf_GRBPtoGVcaaaxKnz2ejNfc5MMoY&fc=None&ff=20220926225216&v=2.17.8

We searched for frameshift mutations in a coding poly(T)(8) tract within the gastrin receptor gene (hGARE), which has a ... We searched for frameshift mutations in a coding poly(T)(8) tract within the gastrin receptor gene (hGARE), which has a ... Frameshift mutations of human gastrin receptor gene (hGARE) in gastrointestinal cancers with microsatellite instability. L. ... All mutated tumors proved to harbor frameshift mutations in other cancer-related genes that are considered as targets in MSI ...

https://iris.hunimed.eu/handle/11699/4002

De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case ... This represents a previously undescribed APC mutation. This mutation causes loss of multiple structures on the APC gene ... Germline mutations in the APC gene located on chromosome 5q 21-22 can lead to familial adenomatous polyposis (FAP) and the ... We report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and ...

https://pesquisa.bvsalud.org/portal/resource/es/mdl-36864485

Conclusions StAR mutations located in the cholesterol binding pocket (V187M, R188C, R192C, G221D/S) seem to cause non-classic ... Only a few mutations have been reported. Design To report clinical, biochemical, genetic, protein structure and functional data ... T44HfsX3 is a loss-of-function StAR mutation. G221S retains partial activity (∼30%) and is therefore responsible for a milder, ... Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). Objective StAR gene mutations causing partial loss ...

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0020178

2020). Hypoxia increases mutational load of breast cancer cells through frameshift mutations. OncoImmunology 9:1750750. doi: ... For cells with defective MMR capacity, mutations in MMR genes may restore the MMR capacity if such a mutation restores ... including antimorphic mutations for oncogenic activation and amorphic mutations in tumor suppressor genes that may further ... 2017). Mitochondrial mutations drive prostate cancer aggression. Nat. Communicat. 8, 1-8. doi: 10.3109/19401736.2014.984173 ...

https://www.frontiersin.org/articles/10.3389/fcell.2021.626229/full

Row colors: pink, frameshift mutations (insertions or deletions); green, synonymous mutations or SNPs reported as being ... pncA Gene Mutations Associated with Pyrazinamide Resistance in Drug-Resistant Tuberculosis, South Africa and Georgia Salim ... pncA Gene Mutations Associated with Pyrazinamide Resistance in Drug-Resistant Tuberculosis, South Africa and Georgia. ... Synonymous mutation.. #Reported in the literature as being associated with susceptibility to pyrazinamide. ...

https://wwwnc.cdc.gov/eid/article/23/3/16-1034-t1

The frameshift mutation at this codon is novel, and may result in a mutated SRY protein. Our results suggest that lack of a ... The majority of mutations within the SRY gene are de novo affecting only a single individual in the family. The mutations ... It is of importance to note that mosaic patients without a SRY mutation also have a risk for malignant germ cell tumors. ... Both patient and her father showed the same deletion of cytosine within HMG box resulting in frame shift mutation (L94fsX180), ...

https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-11-131/metrics

Frameshift Mutation. A frameshift mutation in a gene refers to the insertion or deletion of nucleotide bases in numbers that ... Mutation. A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during ... Nonsense Mutation. A nonsense mutation occurs in DNA when a sequence change gives rise to a stop codon rather than a codon ... Point Mutation. A point mutation occurs in a genome when a single base pair is added, deleted or changed. While most point ...

https://www.genome.gov/genetics-glossary

Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56. Clin Genet. 2013 Feb;83(2): ... Some of these mutations reduce the amount of enamelin produced from one copy of the gene. Other mutations lead to the ... At least 14 mutations in the ENAM gene have been identified in people with a disorder of tooth development called amelogenesis ... These mutations result in the production of an abnormal version of enamelin that prevents enamel from developing properly. ...

https://medlineplus.gov/genetics/gene/enam/

point mutation. mutation that involves the substitution of only one nucleotide. frameshift mutation. mutation that involves the ... agent that can induce or increase the frequency of mutation in organisms. ...

https://www.studystack.com/flashcard-2723320

A frameshift mutation in NOD2 associated with susceptibility to Crohns disease. Nature 2001; 411: 603-606. ... Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet 2004 ... Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic ... Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic ...

https://www.nature.com/articles/gene201319?error=cookies_not_supported&code=07cf9b59-e103-49ac-9e3b-179ef1ddb221

... is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen. Four ... Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010 ... Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013 Apr 4. 92(4):565-74. [QxMD MEDLINE Link]. [Full ... A single recurrent mutation in the 5-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012 Aug 10. 91(2): ...

https://www.medscape.com/answers/947588-196367/what-are-the-possible-complications-of-osteogenesis-imperfecta-oi

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. Imtiaz A, et al. Hum Mutat, 2014 May. PMID 24619944 ... Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. Wonkam A, et al. ... Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. Title: Whole exome ... A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by ...

https://www.ncbi.nlm.nih.gov/gene/643226

BRCA1/2 mutation carriers without cancer should have early and regular cancer screening, and prophylactic measures. This study ... The prevalence of BRCA1/2 mutations varies by race and ethnicity, and the prevalence and the risks associated with most BRCA1/2 ... Seven out of 19 patient’s relatives had BRCA1/2 gene mutations. All selected patients were counselled about the ... Eleven types of mutations in both BRCA1 (in nine patients) and BRCA2 (in three patients) were detected, two of which (BRCA1:p. ...

https://www.mdpi.com/2073-4425/13/2/268

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.. Park H, Kim M, Kim J, Jang J, Choi J, Lee S, Cho ... Park H, Kim M, Kim J, Jang J, Choi J, Lee S, Cho S, Jin D. A boy with Coffin-Siris syndrome with a novel frameshift mutation in ...

https://www.nel.edu/cho-11455/

Frameshift Mutation G13.920.590.300 G13.920.590.265. Frontal Lobe A8.186.211.730.885.213.270 A8.186.211.730.885.287.500.270. ...

https://decs.bvs.br/P/mnchg2008.htm

Frameshift mutation. Genotypes. Heterozygosity. Homo sapiens. Human. Missense mutation. Muscle disease. Mutation. Nonsense ... ST statin myopathy mutation pharmacogenetics. IT Animal gene. RL: BSU (Biological study, unclassified); PRP (Properties); BIOL ... gene mutation. *genetic predisposition. genetic procedures. *genetic variability. genome-wide association study. heterozygote. ... statin myopathy mutation pharmacogenetics. RN 79902-63-9 (Simvastatin). 134523-00-5 (Atorvastatin). 287714-41-4 (Rosuvastatin) ...

https://ikaros.cz/databaze-toxcenter-uvaha-o-vyuziti-duplicitnich-ci-zdrojovych-zaznamu

Frameshift Mutation. 1. 2015. 401. 0.120. Why? Genetic Association Studies. 3. 2011. 2709. 0.120. Why? ...

https://connects.catalyst.harvard.edu/Profiles/display/person/181289/network/researchareas/details

DNA:frameshift mutation:. RGD. PMID:22275874. RGD:38599149. NCBI chr 1:16,433,906...16,623,889 Ensembl chr 1:16,432,631... ... DNA:missense mutation:cds:p.G2320R (rat). RGD. PMID:11089535. RGD:730133. NCBI chr 7:98,418,293...98,603,210 Ensembl chr 7: ... DNA:missense mutation:cds:p.G2320R (rat). RGD. PMID:11089535. RGD:730133. NCBI chr 7:98,418,293...98,603,210 Ensembl chr 7: ... superoxide dismutase 3; mutation 1, Medical College of Wisconsin. onset. IMP. compared to SS/JrHsdMcwi. RGD. PMID:31972339. RGD ...

https://rgd.mcw.edu/rgdweb/ontology/annot.html?acc_id=MP:0005384&species=Rat

... frameshift mutation; Hordeum vulgare; hardness; genetic correlation; amino acid sequences; missense mutation; genotype; grain ... Six-rowed forms emerged due to mutations in the Vrs1 gene in two-rowed barleys. Whether barley is two (Vrs1) or six rowed (vrs1 ... A gain-of-function mutation in resistance (R) gene SSI4 causes constitutive activation of defense responses, spontaneous ...

https://pubag.nal.usda.gov/?f%5Bpublication_year_rev_facet%5D%5B%5D=7992-2008&f%5Bsubject_term%5D%5B%5D=plant+morphology&per_page=100&sort=title

It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. (sanger.ac.uk)
A silent mutation is a codon mutation, which does not result in a change of amino acid after the alteration. (academic.tips)
For example, GUG encodes an amino acid called Valine, and the following change would be an instance of silent mutation. (academic.tips)
This mutation causes loss of multiple structures on the APC gene including the 20- amino acid repeats, the EB1 binding domain, and the HDLG binding site , which may be pathogenic through ß- catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation. (bvsalud.org)
All detected mutations can be predicted to generate a truncated protein carrying amino acid changes. (hunimed.eu)
We show here that the dCREB2-a transgene originally reported to enhance LTM carries a mutation that produces a translational reading-frame shift with the consequent formation of a stop codon at predicted amino acid position 79. (jneurosci.org)
A missense mutation is when one nucleotide is incorrect, which then tells the gene to output an incorrect amino acid. (mesothelioma.com)
A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70% of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or marginally beneficial. (wikipedia.org)
While the majority of these are frameshift and nonsense mutations that result in a severely truncated and non-functional protein, a minority are point mutations that substitute a single amino acid in the 1,863-amino-acid-long BRCA1 protein. (the-scientist.com)
Sanger sequencing of a dissected desmoid tumor demonstrates base pair edits culminating in amino acid changes corresponding the human S45F mutation in CTNNB1 associated with sporadic desmoid tumorigenesis. (xenbase.org)
This type of mutation results from the substitution of a single nucleotide base by a different base, resulting in the replacement of one amino acid by another. (brainscape.com)
This type of mutation results in the replacement of one amino acid by a stop codon, resulting in chain termination. (brainscape.com)
This results in in-frame amino acid deletions, insertions or frameshift mutations leading to premature stop codons within the targeted gene. (galaxyproject.org)

Therefore, several of these internal ids could be associated with a single genomic COSV id where the mutation has been mapped to all overlapping genes and transcripts. (sanger.ac.uk)
To date, mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. (figshare.com)
Gastrointestinal tumors with DNA mismatch repair (MMR) defects show microsatellite instability (MSI) and harbor frameshift mutations in coding mononucleotide repeats of cancer-related genes (targets). (hunimed.eu)
All mutated tumors proved to harbor frameshift mutations in other cancer-related genes that are considered as targets in MSI tumorigenesis. (hunimed.eu)
Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes, which encode type I procollagen. (medscape.com)
Additional genes have been discovered in which mutations can also cause brittle bones. (medscape.com)
This yields genetic redundancy, which allows one of the genes to acquire mutations, becoming a nonfunctional pseudo-gene (Figure 2). (encyclopedia.com)
Mutations in genes can have no effect, alter the product of a gene , or prevent the gene from functioning properly or completely. (wikipedia.org)
[8] Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state. (wikipedia.org)
[11] Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions. (wikipedia.org)
[16] [17] Other types of mutation occasionally create new genes from previously noncoding DNA . (wikipedia.org)
These mutations did not occur in other off-target genes. (worldhealth.net)
however, mutations in other cohesin complex genes have also been implicated, particularly in atypical and mild CdLS cases. (wustl.edu)
In this context, the mutations we will be discussing, affect how the genes produce pigment (ie rabbit color). (colorgenetics.info)
Genes involucrados en la amelogénesis imperfecta. (bvsalud.org)
Future research with a translational approach will help dental esthetics, identify new mutations or genes, contributing to the evolution in the way of classifying, diagnosing and genes. (bvsalud.org)
involucrados en la AI no sindrómica, las proteínas codificas por estos genes y sus funciones, de acuerdo amelogénesis a la evidencia científica actual. (bvsalud.org)
Las futuras investigaciones abordadas desde la visión translacional ayudarán estética dental, a identificar nuevas mutaciones o nuevos genes, lo cual contribuirá a la evolución en la manera de clasificar, genes. (bvsalud.org)
Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. (ox.ac.uk)
Procesos que se dan en distintos organismos, por el que surgen nuevos genes. (bvsalud.org)

Subsequently, the diagnosis of classical EDS was made by identifying a novel frameshift mutation in COL5A1 [NM_000093.4:c.4211_4212delAG, p.Gln1404Arg]. (figshare.com)

We found mutations in 8 (19%) of the 43 MSI-H tumors but in none of the 98 stable cancers. (hunimed.eu)
PIK3CA C-terminal frameshift mutations are novel oncogenic events that sensitize tumors to PI3K-a inhibition. (dana-farber.org)
Tumors from 25% of this group also had mutations on this gene. (mesothelioma.com)
This procedure modeled what happens in humans with BRCA1 mutations, who always carry one good copy of the gene, but who presumably develop tumors from cells that lose the good copy. (the-scientist.com)
In contrast, mice with a mutation that grossly deforms BRCA1 develop tumors 15 months after their good BRCA1 copy is deleted. (the-scientist.com)
But mice with a point mutation in the BRCT domain, which impaired BRCA1's ability to bind the phosphate group of phosphorylated proteins, did develop tumors in the mammary glands and the pancreas after the wildtype BRCA1 allele was knocked down. (the-scientist.com)
These mice develop tumors almost as rapidly as mice with null mutations in BRCA1," Baer said, suggesting that the binding of BRCA1 to other phosphorylated proteins is critical for tumor suppression. (the-scientist.com)
Our findings have clinical relevance regarding therapeutic targeting of BRCA2 vulnerabilities, EGFR mutations or other identified oncogenic drivers such as NTRK in MSH2/MLH1-mutant CRCs or other tumors with mismatch repair deficiency. (oncotarget.com)

However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental retardation in males. (ru.nl)
As some of the clinical features were suggestive of the Prader-Willi syndrome, it might be worthwhile screening for MECP2 mutations in patients with an atypical Prader-Willi phenotype but without the characteristic abnormalities on chromosome 15q. (ru.nl)
This mutation in the type V collagen gene COL5A1 contributes to the phenotype of classical EDS. (figshare.com)
This novel frameshift mutation and its phenotype correlation can provide useful information for practitioners about early recognition in Ehlers-Danlos syndrome. (figshare.com)
Mutations may or may not produce detectable changes in the observable characteristics ( phenotype ) of an organism. (wikipedia.org)
Moreover, at the best of our knowledge, no significant correlation was observed between the TET2 mutation status and both the clinical-laboratory phenotype and the risk of secondary clonal evolution in MPNs [6]. (scirp.org)
A similar phenotype was observed upon PFN1 silencing in murine bone marrow-derived monocytes, suggesting that the frameshift PFN1 mutation confers a loss of function in profilin 1 activity that induces PDB-like features in the osteoclasts, likely due to enhanced cell motility and actin ring formation. (elsevier.com)
Investing nominal resources to preserve some of your N1 mice or some version thereafter will ensure that your model with the original, germline transmissible mutation and phenotype will always be recoverable. (jax.org)
Novel scn5a frameshift mutation in brugada syndrome associated with complex arrhythmic phenotype. (bvsalud.org)
The aim of this study was to assess the prevalence of glucokinase gene mutations in Italian children with MODY and to investigate genotype/phenotype correlations of the mutants. (nih.gov)
Researchers have recently located a frame-shift mutation on MLPH that corresponds to the dilution phenotype in 100% of the rabbits studied. (colorgenetics.info)

The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
Cellular polymerases then repair the cut DNA in one of several ways to create frameshift mutations or small deletions. (jax.org)
Missense mutations and whole gene deletions in RAD21 have been identified in children with growth retardation, minor skeletal anomalies and facial features that overlap findings in individuals with CdLS. (wustl.edu)

We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2 , n = 61). (bmj.com)
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. (bvsalud.org)

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. (ru.nl)
We report on a 10-year-old boy with moderate mental retardation, hypotonia, obesity and gynaecomastia and a de novo 2-bp deletion in the MECP2 gene that resulted in a frameshift and premature stop codon. (ru.nl)
Moreover, this is the first reported male case of a de novo MECP2 mutation. (ru.nl)
De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review. (bvsalud.org)
We report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and review APC germline mutations in patients with FAP-associated thyroid cancer . (bvsalud.org)
Because F8 is located on the X chromosome, HA predominately affects males who either inherit a mutation in F8 from their mother or develop a de novo mutation. (cdc.gov)
Paternity testing indicated that the latter mutations have arisen de novo. (nih.gov)
Hard sweeps occur when a rare but beneficial mutation arises de novo , confers an adaptive advantage, and quickly reaches fixation in a population. (genestogenomes.org)

A missense mutation results in a codon change, which leads to a change in amino acids. (academic.tips)
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. (mpg.de)

Disruptive mutations (i.e. nonsense, frameshifts, splice-site) were equally represented in Groups 1 and 2 and were not clearly associated with an impaired first-phase insulin response. (nih.gov)
The defect is caused by mutations (frameshift, nonsense, missense, or splice-site) in the CHD7 (Chromodomain [ chr omatin o rganisation mo difier] Helicase DNA-Binding Protein 7) gene, which has been mapped to chromosome 8q12.2. (mhmedical.com)

If donor DNA is also supplied, specific point mutations, loxP sites, tags, or fluorescent markers can be incorporated at the repair site. (jax.org)
Circos gives a clear overview of all the structural variants, aberrant gene expression and copy number, and both coding and non-coding point mutations for the selected sample. (sanger.ac.uk)

Curiously, male mice homozygous for the BRCA1 RING domain mutation were sterile. (the-scientist.com)
Homozygosity mapping and exome sequencing in a large, consanguineous British family of Pakistani origin revealed a homozygous frameshift variant (c.140delG [p.Gly47Valfs(∗)3]) in nine affected family members. (ox.ac.uk)

After the CRISPR editing is complete, additional steps are required to generate usable mice, including raising the mouse pups and confirming with genotyping or sequencing that they carry the desired mutation. (jax.org)
To figure out if your CRISPR founder can pass the mutation onto its offspring, you'll need to mate it to a wild-type mouse, ideally from the same inbred background in which you made the mutation. (jax.org)
Additionally, because guide RNAs occasionally produce off-target mutations, mating CRISPR founders to inbred mice will introduce "clean" DNA into your strain. (jax.org)
Did the CRISPR engineered mutation do what you were hoping it would do? (jax.org)
The researchers addressed concerns about genetic safety by showing that frameshift mutations stimulated by CRISPR/Cas9 occurred mainly in the huntington gene. (worldhealth.net)
With CRISPR knockout methods, ideally the end result is a loss-of-function mutation within the targeted gene. (galaxyproject.org)

Because you bred your founders to a wild-type mouse, your N1 mice will be heterozygous for the mutation. (jax.org)
Overall, 4.8% were heterozygous for the mutation. (who.int)

A nonsense mutation is a mutation that leads to a premature stop of protein synthesis or translation. (academic.tips)
Most of the mutations that cause Pallister-Hall syndrome occur near the middle of the gene, creating a premature stop signal in the instructions for making the GLI3 protein. (medlineplus.gov)

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. (bvsalud.org)

The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to carry out its mismatch repair function. (who.int)
The GLI3 gene mutations that cause acrocallosal syndrome change single protein building blocks (amino acids) in a particular region of the GLI3 protein, which disrupts the protein's function. (medlineplus.gov)
The role of the GLI3 protein in brain and limb patterning may help explain why mutations lead to brain abnormalities, polydactyly, and the other features of acrocallosal syndrome. (medlineplus.gov)
To report clinical, biochemical, genetic, protein structure and functional data on two novel StAR mutations, and to compare them with published literature. (plos.org)
Results: We identified a frameshift D107Rfs∗3 mutation in PFN1 (encoding for profilin 1, a highly conserved regulator of actin-polymerization and cell motility) causing the truncation of the C-terminal part of the protein. (elsevier.com)
Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards for coding DNA and predicted protein changes as well as traditional nomenclature based on the mature, processed protein. (cdc.gov)

BRCA2 mutations in MSH2/MLH1-mutant CRCs included 75 unique mutations not known to occur in breast or pancreatic cancer per COSMIC v73. (oncotarget.com)
Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene ( F8 ). (cdc.gov)
The mutation list currently contains 2,537 unique mutations known to cause HA. (cdc.gov)

Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on immunohistochemical analysis. (bmj.com)
This report contributes to the phenotypic knowledge of male patients with MECP2 mutations. (ru.nl)
Mutations in the StAR gene were first described in patients with classic congenital lipoid adrenal hyperplasia (CLAH) in which both the adrenals and the gonads seemed to completely lack steroidogenesis [1] . (plos.org)
However, only ∼25% of such patients were found to be the carriers of MC2R mutations and have been classified as type 1 FGD [7] . (plos.org)
Results: In the novel candidate gene CLCN1, we identified a heterozygote truncating mutation p.R894* in four patients. (ikaros.cz)
As it turns out, patients with the BAP1 mutations developed mesothelioma earlier in their lives, and also "exhibited improved long-term survival compared to mesothelioma patients without BAP1 mutations. (mesothelioma.com)
High-throughput DNA sequence analysis was used to screen for TET2 mutations in peripheral blood derived DNA from 97 patients with BCR-ABL-negative-myeloproliferative neoplasms (MPNs). (scirp.org)
Three unreported mutations were identified (p.P177fs, p.C1298del, p.P411del) the first two in patients with unclassifiable MPN, the last in a patient with essential thrombocythemia. (scirp.org)
We conclude that TET2 mutations occur in both JAK2V617F-positive and -negative MPN and are more frequent in MPN-U patients. (scirp.org)
Methods: Whole exome sequencing was performed in affected and unaffected family members, and then mutation screening was replicated in a sample of PDB patients with early-onset, polyostotic PDB. (elsevier.com)
Sequencing of the entire PFN1 coding region in unrelated PDB patients identified the same mutation in 1 patient. (elsevier.com)
We report the first intragenic deletion and frameshift mutations identified in RAD21 in two patients presenting with atypical CdLS. (wustl.edu)
This study expands the spectrum of RAD21 mutations and emphasizes the clinical utility of performing RAD21 mutation analysis in patients presenting with atypical forms of CdLS. (wustl.edu)
Moreover, the variability of clinical presentation within families and low penetrance of mutations as well as the significance of performing molecular genetic testing in mildly affected patients are discussed. (wustl.edu)

Genomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. (sanger.ac.uk)
The DNA sequence of a pseudogene is characteristically very similar to its functional counterpart, but contains variant mutations that render the gene inactive. (encyclopedia.com)

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. (nih.gov)
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. (ox.ac.uk)

The in-frame deletion mutation was found to be inherited from the mother who had a history of melanoma and other unspecified medical problems. (wustl.edu)

Mutations can also occur in non-genic regions . (wikipedia.org)
These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. (bvsalud.org)

Here we reported an EDS case with atypical initial presentation and a novel genetic mutation. (figshare.com)
In this report the potential genotoxic and carcinogenic hazards of tetrandrine (518343) were studied using two genetic endpoints, gene mutation and DNA damage. (cdc.gov)
Upon genetic examination, researchers found that every family member who had either mesothelioma or melanoma had mutations in the BAP1 gene. (mesothelioma.com)
Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements . (wikipedia.org)
Mutation is the ultimate source of all genetic variation , providing the raw material on which evolutionary forces such as natural selection can act. (wikipedia.org)
Mutations can involve the duplication of large sections of DNA, usually through genetic recombination . (wikipedia.org)

The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands' families, would suggest that this is a prevalent mutation with reduced penetrance. (bmj.com)

The analytic performance (sensitivity and specificity) for the C282Y mutation is expected be consistent, regardless of the race/ethnicity of the population being tested. (cdc.gov)
Although the H63D mutation is not considered part of the screening test, the analytic sensitivity and specificity are similar to those described for the C282Y mutation, serving as further documentation of laboratory performance. (cdc.gov)

We hypothesized MSI leads to mutations in DNA repair proteins including BRCA2 and cancer drivers including EGFR. (oncotarget.com)
Only 5 deleterious BRCA2 mutations in CRC were previously reported in the BIC database as germ-line mutations in breast cancer. (oncotarget.com)
Some BRCA2 mutations were predicted to disrupt interactions with partner proteins DSS1 and RAD51. (oncotarget.com)
Some CRCs harbored multiple BRCA2 mutations. (oncotarget.com)

StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. (plos.org)

We analyzed mutations among a discovery cohort of 26 MSI-High (MSI-H) and 558 non-MSI-H CRCs profiled at Caris Life Sciences. (oncotarget.com)

The lack of correlation between the molecular severity of glucokinase mutations, insulin secretion at intravenous glucose tolerance test and differences in glucose tolerance suggests that factors outside the beta cell are also involved in determining post-load glucose concentrations in these subjects. (nih.gov)
SUMMARY A direct correlation between HIV infection and mutation in the chemokine receptor ( CCR5 ) gene has been established. (who.int)

Using the following mRNA sequence, provide a definition and an example of each of the following mutations: silent, nonsense, missense, and frameshift mutation. (academic.tips)
In biology , a mutation is an alteration in the nucleic acid sequence of the genome of an organism , virus , or extrachromosomal DNA . (wikipedia.org)
However 1 in 5 mutations in a sequence are not a mix. (matteoferla.com)

Researchers have linked more than 1,500 mutations in BRCA1 to an increased risk of developing early onset cancer in humans. (the-scientist.com)

To investigate this, the researchers engineered mice in which one of the two copies of the BRCA1 gene harbored a mutation that replaced an isoleucine in the RING domain with an alanine. (the-scientist.com)
While this mutation still allowed BRCA1 to bind to BARD1 (which is necessary for the stability of both proteins), it impaired the complex's enzymatic ability to ubiquitinate. (the-scientist.com)

Germline mutations in the APC gene located on chromosome 5q 21-22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. (bvsalud.org)
Out of all the participants, 6% of those with mesothelioma and familial histories of cancer had mutations of the BAP1 gene. (mesothelioma.com)
Because HA is an inherited disorder, knowledge of the mutation carried in a family can aid in prenatal diagnosis and identification of familial carriers ( Goodeve, 2008 ). (cdc.gov)

One patient had an in-frame deletion of exon 13, while the second patient had a c.592_593dup frameshift mutation. (wustl.edu)

early-onset sarcoidosis has also been associated with CARD15 mutations 14 . (ersjournals.com)
Conclusions: Our findings indicate that PFN1 mutation causes an early onset, polyostotic PDB-like disorder. (elsevier.com)

A novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history of colon cancer. (who.int)

For example, UGG change to UGA would be a nonsense mutation, as shown below. (academic.tips)

A frameshift mutation is a change of codon reading frame through insertion or deletion of one nucleotide or nucleotides. (academic.tips)
Frameshift mutations are caused by the addition or deletion of nucleotides, causing the entire code to shift. (mesothelioma.com)

Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. (wikipedia.org)

The MMR-deficient and gastrin-sensitive LoVo colorectal cancer cells also showed a hGARE heterozygous frameshift mutation, but expressed only the mutated allele. (hunimed.eu)

A further theory suggests that NOD2 mutations lead to a reduction in the production of alpha-defensins (small antibacterial proteins) by Paneth cells located in the small bowel. (medscape.com)

hGARE mutation frequency was similar in gastric (23%) and colorectal cancers, including sporadic (13%) and hereditary (20%) cases. (hunimed.eu)

10 000 carriers of this mutation in the USA alone. (bmj.com)
All mutation carriers had a reduced response to bisphosphonates, requiring multiple zoledronate infusions to control bone pain and achieve biochemical remission over a long term. (elsevier.com)
In vitro osteoclastogenesis in peripheral blood mononuclear cells (PBMCs) from mutation carriers showed a higher number of osteoclasts with PDB-like features. (elsevier.com)

Generically, analytic sensitivity is defined the proportion of positive test results, when a detectable mutation is present (i.e., the test is designed to detect that mutation). (cdc.gov)
Generically, analytic specificity is the proportion of negative test results when no detectable mutation is present. (cdc.gov)
The false positive rate is the proportion of positive test results when no detectable mutations are present (1-analytic specificity). (cdc.gov)

The genotype of interest is homozygosity for the C282Y mutation. (cdc.gov)

This gene first came under scrutiny when researchers noticed individuals with family histories of mesothelioma had mutations on or around the BAP1 region, and researchers have honed in on this gene as a risk factor of this dangerous cancer. (mesothelioma.com)
To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. (cdc.gov)
These known mutations gave researchers a starting point in the search for dilution in rabbits. (colorgenetics.info)

Biotech Europe GmbH, Freiburg, Germa- cation of the virus in cells heterozygous for ny) was used to extract genomic DNA the mutation proceeded at an intermediate from white blood cells following the lysis rate [ 5 ]. (who.int)

High prevalence of glucokinase mutations in Italian children with MODY. (nih.gov)
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (medscape.com)

These are internal identifiers that are unique to a mutation on a particular transcript and are displayed in the URL of the mutation pages. (sanger.ac.uk)

X-linked Charcot-Marie-Tooth Disease type 1(CMT1X) is the second most common form of inherited peripheral neuropathy that is caused by mutations in the gap junction beta-1 (GJB1) gene. (frontiersin.org)

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. (medscape.com)
Coffee EM, Tolan DR. Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. (medscape.com)
Tolan DR. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene. (medscape.com)

The DNA test associated with HHC is qualitative (i.e., a mutation is reported as present or absent). (cdc.gov)

2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases are caused by PMS2. (bmj.com)

Mutation can result in many different types of change in sequences. (wikipedia.org)
However in the case of sequences with a few mutations any complement will do. (matteoferla.com)

StAR gene analysis revealed two novel compound heterozygote mutations T44HfsX3 and G221S. (plos.org)

Legacy mutation identifier (COSM) represents existing COSM mutation identifiers. (sanger.ac.uk)
This represents a previously undescribed APC mutation . (bvsalud.org)
The presence of JAK2 or MPL mutations represents major diagnostic criteria in the WHO classification of classic BCR-abl negative MPNs. (scirp.org)

During adaptive evolution under lethal stress conditions, the fitness of L. mesenteroides gradually increased to accumulate beneficial mutations according to the stress level. (biomedcentral.com)

Tetrandrine produced a dose dependent enhancement of mutations induced by all the mutagens studied. (cdc.gov)

Listings also include the associated hemophilia severity classified by International Society of Thrombosis and Haemostasis (ISTH) criteria, associations of the mutations with inhibitors, and reference information. (cdc.gov)

Anatomy2

Organisms3

Diseases17

Chemicals and Drugs43

Analytical, Diagnostic and Therapeutic Techniques and Equipment19

Psychiatry and Psychology1

Phenomena and Processes82

Information Science3

Health Care3

Transfer RNA modification status influences retroviral ribosomal frameshifting. (1/2000)

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (2/2000)

Mutated epithelial cadherin is associated with increased tumorigenicity and loss of adhesion and of responsiveness to the motogenic trefoil factor 2 in colon carcinoma cells. (3/2000)

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. (4/2000)

Infrequent translation of a nonsense codon is sufficient to decrease mRNA level. (5/2000)

p53 mutations in human cutaneous melanoma correlate with sun exposure but are not always involved in melanomagenesis. (6/2000)

High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. (7/2000)

How translational accuracy influences reading frame maintenance. (8/2000)

Frameshift Mutation

Mutation

Point Mutation

Mutation, Missense

Base Sequence

Molecular Sequence Data

Pedigree

Frameshifting, Ribosomal

DNA Mutational Analysis

Codon, Nonsense

Exons

Amino Acid Sequence

Germ-Line Mutation

Phenotype

Sequence Deletion

Alleles

Polymerase Chain Reaction

Heterozygote

Sequence Analysis, DNA

Homozygote

Polymorphism, Single-Stranded Conformational

Microsatellite Repeats

Codon

Suppression, Genetic

Mutagenesis

Genes, Recessive

Codon, Terminator

Escherichia coli

Aminacrine

Proflavine

Mutagens

Gene Deletion

Cloning, Molecular

Base Pair Mismatch

DNA Primers

Genotype

Syndrome

Consanguinity

Plasmids

Mutagenesis, Site-Directed

Open Reading Frames

Genes, Bacterial

Amino Acid Substitution

Mutation Rate

DNA-Binding Proteins

Genes, Dominant

Genetic Complementation Test

Chromosome Mapping

Bacterial Proteins

DNA Repair

Sequence Homology, Amino Acid

Acridines

DNA

Reading Frames

Abnormalities, Multiple

RNA, Messenger

Exome

Cell Line

Sequence Alignment

DEFICIENS Protein

Saccharomyces cerevisiae

Genes

Genetic Linkage

RNA Splice Sites

Transcription Factors

Mutagenesis, Insertional

Protein Structure, Tertiary

Microsatellite Instability

Restriction Mapping

Genetic Testing

Founder Effect

Activin Receptors, Type II

Models, Genetic

Recombination, Genetic

Retinitis Pigmentosa

Protein Biosynthesis

Genetic Diseases, X-Linked

Transcription, Genetic

Introns

Carrier Proteins