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Splice site mutation

Index Splice site mutation

A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. [1]

31 relations: ADAMTS13, Adenoviridae, Beta thalassemia, Cystatin B, Deletion (genetics), Drosophila melanogaster, Exon, Febrile seizure, Genetic disorder, Genetics, Globin, Human Genome Project, Information theory, Insertion (genetics), Len A. Pennacchio, Mature messenger RNA, Model organism, Mutation, Nobel Prize in Physiology or Medicine, Online database, Parathyroid hormone, Phillip Allen Sharp, Point mutation, Precursor mRNA, Protein, Richard J. Roberts, RNA splicing, Spliceosome, Stop codon, Thrombotic thrombocytopenic purpura, Transversion.

ADAMTS13

ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)—also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting.

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Adenoviridae

Adenoviruses (members of the family Adenoviridae) are medium-sized (90–100 nm), nonenveloped (without an outer lipid bilayer) viruses with an icosahedral nucleocapsid containing a double stranded DNA genome.

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Beta thalassemia

Beta thalassemias (β thalassemias) are a group of inherited blood disorders.

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Cystatin B

Cystatin-B is a protein that in humans is encoded by the CSTB gene.

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Deletion (genetics)

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

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Drosophila melanogaster

Drosophila melanogaster is a species of fly (the taxonomic order Diptera) in the family Drosophilidae.

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Exon

An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.

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Febrile seizure

A febrile seizure, also known as a fever fit or febrile convulsion, is a seizure associated with a high body temperature but without any serious underlying health issue.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetics

Genetics is the study of genes, genetic variation, and heredity in living organisms.

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Globin

The globins are a superfamily of heme-containing globular proteins, involved in binding and/or transporting oxygen.

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Human Genome Project

The Human Genome Project (HGP) was an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.

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Information theory

Information theory studies the quantification, storage, and communication of information.

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Insertion (genetics)

In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence.

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Len A. Pennacchio

Len A. Pennacchio is an American molecular biologist, the head of the Genetic Analysis Program and the Genomic Technologies Program at the Joint Genome Institute in Walnut Creek, California.

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Mature messenger RNA

Mature messenger RNA, often abbreviated as mature mRNA is a eukaryotic RNA transcript that has been spliced and processed and is ready for translation in the course of protein synthesis.

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Model organism

A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the organism model will provide insight into the workings of other organisms.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Nobel Prize in Physiology or Medicine

The Nobel Prize in Physiology or Medicine (Nobelpriset i fysiologi eller medicin), administered by the Nobel Foundation, is awarded once a year for outstanding discoveries in the fields of life sciences and medicine.

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Online database

An online database is a database accessible from a local network or the Internet, as opposed to one that is stored locally on an individual computer or its attached storage (such as a CD).

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Parathyroid hormone

Parathyroid hormone (PTH), also called parathormone or parathyrin, is a hormone secreted by the parathyroid glands that is important in bone remodeling, which is an ongoing process in which bone tissue is alternately resorbed and rebuilt over time.

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Phillip Allen Sharp

Phillip Allen Sharp (born June 6, 1944) is an American geneticist and molecular biologist who co-discovered RNA splicing.

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Point mutation

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.

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Precursor mRNA

Precursor mRNA (pre-mRNA) is an immature single strand of messenger ribonucleic acid (mRNA).

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Protein

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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Richard J. Roberts

Sir Richard John Roberts (born 6 September 1943) is an English biochemist and molecular biologist.

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RNA splicing

In molecular biology, splicing is the editing of the nascent precursor messenger RNA (pre-mRNA) transcript into a mature messenger RNA (mRNA).

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Spliceosome

A spliceosome is a large and complex molecular machine found primarily within the splicing speckles of the cell nucleus of eukaryotic cells.

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Stop codon

In the genetic code, a stop codon (or termination codon) is a nucleotide triplet within messenger RNA that signals a termination of translation into proteins.

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Thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare disorder of the blood-coagulation system, causing extensive microscopic clots to form in the small blood vessels throughout the body, resulting in low platelet counts.

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Transversion

Transversion, in molecular biology, refers to the substitution of a (two ring) purine for a (one ring) pyrimidine or vice versa, in deoxyribonucleic acid (DNA).

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References

[1] https://en.wikipedia.org/wiki/Splice_site_mutation

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