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Neomorphic mutations are a part of the gain-of-function mutations and are characterized by the control of new protein product synthesis. The newly synthesized gene normally contains a novel gene expression or molecular function. The result of the neomorphic mutation is the gene where the mutation occurs has a complete change in function. [56]
Friedreich's ataxia is an autosomal recessive disorder cause by a GAA expansion in the intron of the FXN gene. This gene codes for the protein frataxin, a mitochondrial protein involved in iron homeostasis. The mutation impairs transcription of the protein, so affected cells produce only 5-10% of the frataxin of healthy cells. [45]
Genetic variation is the difference in DNA among individuals [1] or the differences between populations among the same species. [2] The multiple sources of genetic variation include mutation and genetic recombination. [3] Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as ...
In nature, the mutations that arise may be beneficial or deleterious—this is the driving force of evolution. An organism may acquire new traits through genetic mutation, but mutation may also result in impaired function of the genes and, in severe cases, causes the death of the organism.
There are several methods, or forms, of mutation that exist including spontaneous mutation, errors during replication and repair, as well as mutation due to environmental effects. [8] These origins of mutations can cause many different types of mutations which influence gene expression on both large and small scales.
The varying clinical expression of the disease between different families suggests that multiple loci may be involved. In 1992, using genetic linkage studies, the BOR gene was identified on chromosome 8, [10] Subsequently, another locus on human chromosome 14 was identified, and several mutations were reported in genes EYA1, SIX1, [11] and SIX5.
Types of mutations that can be introduced by random, site-directed, combinatorial, or insertional mutagenesis. In molecular biology, mutagenesis is an important laboratory technique whereby DNA mutations are deliberately engineered to produce libraries of mutant genes, proteins, strains of bacteria, or other genetically modified organisms. The ...
Gene conversion resulting in mutation of the CYP21A2 gene is a common underlying genetic cause of congenital adrenal hyperplasia. Somatic gene conversion is one of the mechanisms that can result in familial retinoblastoma , a congenital cancer of the retina , and it is theorized that gene conversion may play a role in the development of ...