MutationAlteration in the nucleotide sequence of a genomeThree major single-chromosome mutations: deletion (1), duplication (2) and inversion (3).In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Mutations result from errors during replication, mitosis, meiosis, or damage to DNA, which then may trigger error-prone repair or cause an error during replication (translesion synthesis).
Tumor suppressor geneA tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell during cell division and replication. When a tumor suppressor gene is mutated, it results in a loss or reduction in its function. In combination with other genetic mutations, this could allow the cell to grow abnormally. The loss of function for these genes may be even more significant in the development of human cancers, compared to the activation of oncogenes.
ProlineNames IUPAC nameProlineSystematic IUPAC namePyrrolidine-2-carboxylic acidIdentifiers CAS NumberL: 147-85-3D/L: 609-36-9D: 344-25-23D model (JSmol)L: Interactive imageL Zwitterion: Interactive imageBeilstein Reference80812 ChEBIL: CHEBI:17203D/L: CHEBI:26271D: CHEBI:16313ChEMBLL: ChEMBL72275ChemSpiderL: 128566D/L: 594D: 8640DrugBankL: DB00172ECHA InfoCard100.009.264EC NumberL: 210-189-3Gmelin Reference26927 KEGGL: C00148MeSHProlinePubChemCIDL: 145742D/L: 614D: 8988RTECS numberL: TW3584000UNIIL: 9DLQ4CIU6VD/L: DCS9E77JPQD: L01Q4LGZ5LCompTox Dashboard(EPA)L: DTXSID9041104InChIInChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m0/s1Key: ONIBWKKTOPOVIA-BYPYZUCNSA-ND/L: Key: ONIBWKKTOPOVIA-UHFFFAOYSA-ND: Key: ONIBWKKTOPOVIA-SCSAIBSYSA-NSMILESL: C1C[C@H](NC1)C(=O)OL Zwitterion: [O-]C(=O)[C@H](CCC2)[NH2+]2Properties Chemical formulaC5H9NO2Molar mass115.132 g·mol Appearance Transparent crystals Melting point205 to 228 °C (401 to 442 °F; 478 to 501 K) (decomposes) Solubility1.5g/100g ethanol 19 degC log P−0.06 Acidity (pKa) 1.99 (carboxyl), 10.96 (amino) Supplementary data page Proline (data page)Except where otherwise noted, data are given for materials in their standard state (at 25 °C [77 °F], 100 kPa).Proline (symbol Pro or P) is an organic acid classed as a proteinogenic amino acid (used in the biosynthesis of proteins), although it does not contain the amino group-NH2 but is rather a secondary amine.
Transcription factorIn molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to DNA sequences. Specificity can be due to sequence motifs, or epigenetic modifications.
GenomeIn the fields of molecular biology and genetics, a genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as regulatory sequences (see non-coding DNA), and often a substantial fraction of junk DNA with no evident function. Almost all eukaryotes have mitochondria and a small mitochondrial genome.
Regulation of gene expressionRegulation of gene expression, or gene regulation, includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). Sophisticated programs of gene expression are widely observed in biology, for example to trigger developmental pathways, respond to environmental stimuli, or adapt to new food sources.
UniProtUniProt is a freely accessible database of protein sequence and functional information, many entries being derived from genome sequencing projects. It contains a large amount of information about the biological function of proteins derived from the research literature. It is maintained by the UniProt consortium, which consists of several European bioinformatics organisations and a foundation from Washington, DC, US.
Gene expressionConversion of a gene's sequence into a mature gene product or productsFlowchart of gene expression.Gene expression is the process by which the information contained within a gene is used to produce a functional gene product, such as a protein or a functional RNA molecule. This process involves multiple steps, including the transcription of the gene's sequence into RNA.
CancerGroup of diseases involving cell growthMedical conditionCancer is a group of diseases involving uncontrolled cell growth typically resulting in tumors with the potential to invade or spread to other parts of the body. These malignant tumors contrast with benign tumors, which do not spread. Over 100 types of cancers affect humans. About 33% of deaths from cancer are caused by tobacco and alcohol, obesity, lack of fruit and vegetables in the diet and lack of exercise.
VertebrateSubphylum of chordatesVertebrates (), also called craniates, are animals with a vertebral column and a cranium. The vertebral column surrounds and protects the spinal cord, while the cranium protects the brain. The vertebrates make up the subphylumVertebrata ( ) with some 65,000 species, by far the largest ranked grouping in the phylumChordata. The vertebrates include mammals, birds, amphibians, and various classes of fishes and reptiles.
IsoformIn genetics, an isoform is a member of a set of similar products that originate from the same gene; such a set can consist of mRNAs or their resultant proteins. The best-studied isoforms are the protein isoforms, or "protein variants", resulting from differences in the coding DNA sequences (CDS) of their precursor mRNAs. While many perform the same or similar biological roles, some protein isoforms have unique functions.
GeneticsScience of genes, heredity and variationGenetics is the study of genes, genetic variation, and in organisms. It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a MoravianAugustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time.*As an Amazon Associate I earn from qualifying purchases.