Genetics insertion mutation

Cole, D. E. C., Janicic, N., Salisbury, S. R., and Hendy, G. N. (1997) Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and famdial hypocalciuric hypercalcemia multiple different phenotypes associated with an inactivating alu insertion mutation of the calcium-sensing receptor gene. Am. J. Med Genet. 71, 202-210. 

Although the rates of spontaneous mutation are low, they can be greatly increased by mutagenic chemicals (Chapter 27) or by irradiation. It is perfectly practical to measure the rates of both forward and back mutation. When this was done, it was found that certain chemicals, e.g., acridine dyes, induce mutations that undergo reverse mutation at a very much lower frequency than normal. It was eventually shown that these mutations resulted either from deletions of one or more nucleotides from the chain or from insertions of extra nucleotides. Deletion and insertion mutations often result from errors during genetic recombination and repair at times when the DNA chain is broken. 

Steinlein OK, Magnusson A, Stood J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D (1997) An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 6 943-947... 

Kazazian, H. H., Jr. 1999. An estimated frequency of endogenous insertional mutations in humans. Nature Genet. 22 130. 

Somatic mutation theories (2,3,10-15) postulate that the origin of diversity is a normal genetic event (mutation, deletion, insertion or recombination) which occurs in V genes at low frequency throughout the life of the individual. We will first consider mechanisms that do not involve recombination. 

Spradling A.C., Stern D., Beaton A.., Rehm E.J., Laverty X, Mozden N., Misra S., and Rubin G.M. 1999. The Berkeley Drosophila Genome Project Gene Disruption Project Single P-element insertions mutating 25% of vital Drosophila genes. Genetics 153 135-177. 

An alteration in the sequence of purine and pyrimidine bases in a gene due to a change—a removal or an insertion—of one or more bases may result in an altered gene product. Such alteration in the genetic material results in a mutation whose consequences are discussed in detail in Chapter 38. 

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