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Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. Lethal mutations result in rapid organismal death when occurring during development and cause significant reductions of life expectancy for developed organisms. An example of a disease that is caused by a dominant lethal mutation is Huntington's disease.
The most common exonic mutations of AIRE occur on exons 1, 2, 6, 8, and 10. Exons 1 and 2 encode the HSR, exon 6 encodes the SAND domain, exon 8 is in the PHD-1 domain, and exon 10 is located in the proline-rich region between the two PHD finger domains. [27] Known mutations in AIRE include Arg139X, Arg257X, and Leu323SerfsX51. [28]
20997 Ensembl ENSG00000164458 ENSMUSG00000062327 UniProt O15178 P20293 RefSeq (mRNA) NM_001270484 NM_003181 NM_001366285 NM_001366286 NM_009309 RefSeq (protein) NP_001257413 NP_003172 NP_001353214 NP_001353215 NP_033335 Location (UCSC) Chr 6: 166.16 – 166.17 Mb Chr 17: 8.65 – 8.66 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse T-box transcription factor T, also known as ...
The international pictogram for chemicals that are sensitising, mutagenic, carcinogenic or toxic to reproduction. In genetics, a mutagen is a physical or chemical agent that permanently changes genetic material, usually DNA, in an organism and thus increases the frequency of mutations above the natural background level.
Albinism is the mutation of the TYR gene, also termed tyrosinase. This mutation causes the most common form of albinism. The mutation alters the production of melanin, thereby affecting melanin-related and other dependent traits throughout the organism. Melanin is a substance made by the body that is used to absorb light and provides coloration ...
ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical pathway), oxidative stress, topoisomerase cleavage complexes, splicing intermediates, R-loops and in some cases by single-strand DNA breaks. [5]
Sickle cell disease: In a healthy individual, the HBB gene is responsible for encoding hemoglobin which carries oxygen throughout the body. [16] However, when a person has this disease due to inheriting two mutated copies of the HBB gene due to a base pair point mutation, their red blood cells are shaped differently. [ 16 ]
DNA may be modified, either naturally or artificially, by a number of physical, chemical and biological agents, resulting in mutations. Hermann Muller found that "high temperatures" have the ability to mutate genes in the early 1920s, [2] and in 1927, demonstrated a causal link to mutation upon experimenting with an x-ray machine, noting phylogenetic changes when irradiating fruit flies with ...