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Has there any mutations been recorded which cause harmful effects due to change in the part of pre-mRNA responsible for proper m-RNA splicing ?

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Do you mean mutations in donor and acceptor splice sites? – Alan Boyd Dec 12 '13 at 18:52
Adding to Alans question: Mutation of the pre-mRNA only (due to mistakes during transcription) or mutations in the genomic DNA which are then transcribed into the pre-mRNA and which affect splice acceptor sites? – Chris Dec 12 '13 at 19:16
@chris I mean mutations in the genomic dna. By the way, can we call mistakes during transcription as mutations ? – biogirl Dec 12 '13 at 19:40
@Alan Yes, any site in the pre - mRNA involved in this. – biogirl Dec 12 '13 at 19:48
up vote 6 down vote accepted

Yes, you can find mutations in the genomic DNA which affect splice acceptor sites. Wikipedia lists the following outcome:

  • Mutation of a splice site resulting in loss of function of that site. Results in exposure of a premature stop codon, loss of an exon, or inclusion of an intron.
  • Mutation of a splice site reducing specificity. May result in variation in the splice location, causing insertion or deletion of amino acids, or most likely, a disruption of the reading frame.
  • Displacement of a splice site, leading to inclusion or exclusion of more RNA than expected, resulting in longer or shorter exons.

The article lists two interesting papers:

Lim KH, Ferraris L, Filloux ME, Raphael BJ, Fairbrother WG (2011). "Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes". Proc. Natl. Acad. Sci. U.S.A. 108 (27) 11093–11098.

Ward AJ, Cooper TA (2010). "The pathobiology of splicing". J. Pathol. 220 (2) 152–163.

Both papers are open access.

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