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Biology#37

Genetic Mutation

  • 信息1:Genetic changes can be helpful, harmful, or just neutral.
  • 信息2:You see, DNA contains sequences of nucleotide bases, and each base is represented by a particular letter: A, T, G, or C.
  • 信息3:A mutation occurs when the letters in DNA are altered. This can sometimes change the protein that that section of DNA codes for, the way a new ingredient can totally change a dish — like if you accidentally added sugar instead of salt. But mutations can also happen in DNA that doesn’t code for proteins. These mutations occur quite often with no real effect — kind of like the garnish on your plate.
  • 信息4:Mutation can be caused by many factors, like error during DNA replication, mutagen, inherited mutations, etc.
  • 信息5:So, where a mutation occurs in the body is going to help determine its impact.
  • 信息6:One common reason for how mutation alter DNA is substitution, where one nucleotide is substituted for a different one.

    Substitution可以被分为四类,①missense mutation, 比如GAA告诉细胞形成谷氨酸,如果这时GAA变异成了GUA,细胞会形成缬氨酸——一种和谷氨酸功能不一样的氨基酸。②nonsense mutation,比如GAA告诉细胞形成谷氨酸,如果这是GAA编译成了UAA,而UAA是stop codon(终止密码子),它会告诉细胞蛋白质已经构建完成了。And this can stop production, resulting in a fragment rather than a complete protein. ③silent mutation,比如GAA变异成了GAG,但GAG和GAA一样,告诉细胞形成谷氨酸,看似没有任何区别,但2022年对酵母菌的一项研究发现,这种silent mutation对酵母菌繁殖似乎有一定影响,Until, in 2022, a study on yeast found that these mutations still hurt the yeast’s ability to reproduce in more than 75 percent of cases. Even if silent mutations weren’t changing the molecules in a protein, they were affecting when and how often proteins were made. ④frameshift mutation,碱基的增减。

  • 信息7:In 2020, scientists Emmanuelle Charpentier and Jennifer Doudna won the Nobel Prize in Chemistry for figuring out how to harness that powerful immune system into a gene-editing tool called CRISPR/Cas9.