Which of the following statements correctly describes a gain-of-function mutation and provides an appropriate example?
1
Gain-of-function mutations cause a gene to lose its normal function, typically leading to recessive diseases. An example is Cystic Fibrosis caused by a mutation in the CFTR gene.
2
Gain-of-function mutations cause a gene to acquire new or enhanced activity, usually leading to dominant diseases. An example is the mutation in the Ras gene that results in cancer.
3
Gain-of-function mutations cause a gene to interfere with the function of the normal gene product, usually resulting in dominant inheritance. An example is Marfan Syndrome due to a mutation in the FBN1 gene.
4
Gain-of-function mutations cause a gene to lose its function entirely, and they typically lead to recessive inheritance. An example is p53 mutations that lead to cancer.