Guest guest Posted October 15, 2002 Report Share Posted October 15, 2002 Does anyone know what the difference is between 'nonsense' and 'missense' gene's. I have been looking around the G551d sites and it keeps mentioning these words? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 15, 2002 Report Share Posted October 15, 2002 Hi , I heard a good analogy to explain the different mutation types. Imagine a car factory. If you have a stop mutation (aka type 1 mutation), then the blueprints have never made it to the factory (the nucleus). Another name for those stop mutations is nonsense mutation. If you have a type 2 mutation (that's where the most common ones like dF508 and N1303K belong to) then a prototype is built, but since it is absolutely faulty it won't pass the quality control (within the cell this job is done by the endoplasmatic reticulum). A type 3 mutation (like G551D) is one that's basically okay, it is delivered to the show room (cell membrane), but one idiot has misplaced the key and you can't open it and start it. Type 4 (like R117H) is a model, with some minor faults ( substances aren't transported as much as necessary through the channel) Type 5 (like A554E) are mutations, where everything is okay, but the factory can't match the demand of the market. The CFTR works properly, but a premature stop signal ends the production before enough CFTR has been made. Hope this helps more than it adds to the confusion. Peace Torsten > Does anyone know what the difference is between 'nonsense' and > 'missense' gene's. I have been looking around the G551d sites and it > keeps mentioning these words? > > Thanks > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 15, 2002 Report Share Posted October 15, 2002 Hi , I heard a good analogy to explain the different mutation types. Imagine a car factory. If you have a stop mutation (aka type 1 mutation), then the blueprints have never made it to the factory (the nucleus). Another name for those stop mutations is nonsense mutation. If you have a type 2 mutation (that's where the most common ones like dF508 and N1303K belong to) then a prototype is built, but since it is absolutely faulty it won't pass the quality control (within the cell this job is done by the endoplasmatic reticulum). A type 3 mutation (like G551D) is one that's basically okay, it is delivered to the show room (cell membrane), but one idiot has misplaced the key and you can't open it and start it. Type 4 (like R117H) is a model, with some minor faults ( substances aren't transported as much as necessary through the channel) Type 5 (like A554E) are mutations, where everything is okay, but the factory can't match the demand of the market. The CFTR works properly, but a premature stop signal ends the production before enough CFTR has been made. Hope this helps more than it adds to the confusion. Peace Torsten > Does anyone know what the difference is between 'nonsense' and > 'missense' gene's. I have been looking around the G551d sites and it > keeps mentioning these words? > > Thanks > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 15, 2002 Report Share Posted October 15, 2002 Hi , I heard a good analogy to explain the different mutation types. Imagine a car factory. If you have a stop mutation (aka type 1 mutation), then the blueprints have never made it to the factory (the nucleus). Another name for those stop mutations is nonsense mutation. If you have a type 2 mutation (that's where the most common ones like dF508 and N1303K belong to) then a prototype is built, but since it is absolutely faulty it won't pass the quality control (within the cell this job is done by the endoplasmatic reticulum). A type 3 mutation (like G551D) is one that's basically okay, it is delivered to the show room (cell membrane), but one idiot has misplaced the key and you can't open it and start it. Type 4 (like R117H) is a model, with some minor faults ( substances aren't transported as much as necessary through the channel) Type 5 (like A554E) are mutations, where everything is okay, but the factory can't match the demand of the market. The CFTR works properly, but a premature stop signal ends the production before enough CFTR has been made. Hope this helps more than it adds to the confusion. Peace Torsten > Does anyone know what the difference is between 'nonsense' and > 'missense' gene's. I have been looking around the G551d sites and it > keeps mentioning these words? > > Thanks > > > > > Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.