Introns function

Strobel, S.A. and Shetty, K. (1997). Defining the chemical groups essential for Tetrahymena group 1 intron function by nucleotide analog interference mapping. Proc. Natl. Acad. Sci. USA 94, 2903-2908. 

As yet, no human diseases have been identified as a result of FATPl mutations. However, genetic polymorphisms in the human FATPl gene have been linked to dyslipidemia. An A/G exchange at position +48 in intron 8 of the FATPl gene has been shown to result in increased TG concentrations in female but not in male subjects. In a second study, the same polymorphism was linked to increased postprandial TG concentrations and smaller low density lipoprotein (LDL) particles. To date, it is still unknown if this polymorphism is associated with altered levels of FATPl expression and/or function. 

Eukaryotic mRNA synthesis results in a pre-mRNA precursor that contains extensive amounts of excess RNA (introns) that must be precisely removed by RNA splicing to generate functional, translatable mRNA composed of exonic coding and noncoding sequences. 

Sachse C, Brockmoller J, Bauer S, Roots I. Functional significance of a C—>A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol 1999 47(4) 445—449. 

Gene A segment of DNA containing all information for the regulated biosynthesis of an RNA product, including promoters, exons, introns, and other untranslated regions that control expression. Fundamental physical and functional unit of heredity and evolution. A gene is an ordered sequence of nucleotides located on a specific chromosomal locus that encodes particular products (i.e., RNA molecules, proteins) (see comment at amino acids). 

Fig. 8.5 Demonstration of IFNa2b functionality by the ability of IF-Na2b to protect HeLa cells against the cytopathic effect of encephalomyocarditis virus (EMC). Chloroplast derived IFNa2bwas as active as commercially produced Intron A.

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