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You are looking at exons as individual subunits of the dystrophin gene - and whilst they are all distinct, they each have a specific splicing site motif that must match the adjoining exon in order for a functional protein to be formed during post translational modification.
It's basically like looking at a row in a jigsaw puzzle some pieces you could remove as an individual piece, and it would fit together with the next .... others do not have compatible ends unless you remove one or more pieces. This can be better shown if we look at the splicing site motifs of the first 14 exons of dystrophin:
| 1 > >23456| |7> >891011| |121314br />
If you remove exon 3, exon 4 can still bind to exon 2, as their splice sites are compatible ..... | 1 > >24< this mutation will result in an inframe mutation.
However if you remove exon 2, exon 1 can not bind to exon 3 ...... | 1 > <34< this mutation will result in an out of frame mutation.
On a larger scale you can lose exons 3 to 13, and still have an inframe mutation ....... | 1 > >214< Again the reading frame has not been lost. (This is why multiple exons can be lost, and still result in a BMD phenotype.)
Hope that helps.
Ahh now it makes sense. Do you know the connections for the rest of the exons/ or where I can find them? Im interested in exon 23.
Julie, here is my son's Gene Test Result and he has a non-sense mutation.
DMD deln/dupln --- NO Deletion/Duplication
DMD Sequencing --- * Sequence position: 767
Amino acid change: Glutamic acid > Amber
DNA variant type: Predicted disease-associated mutation (hemizygous)
No other abnormal DNA sequence variants were identified in the remainder of the coding sequence or intron/exon junctions of this gene.
Please could you let me know which Exon skipping might help my son?
Thank you very so much for your help.
-Melanie
Hi Melanie,
If my memory serves me correct (and it has been a long time since I looked at nucleotide positions within the DMD gene) your son has a premature stop codon in either exon 17 or exon 18. (I am leaning towards exon 18, as ex17 contains the entire second hinge, and that finishes at the 717 codon). Either way you will require a double skip of both 17 and 18 to restore the reading frame.
Hope that helps :)
Jules
Melanie Sunny said:Julie, here is my son's Gene Test Result and he has a non-sense mutation.
DMD deln/dupln --- NO Deletion/Duplication
DMD Sequencing --- * Sequence position: 767
Amino acid change: Glutamic acid > Amber
DNA variant type: Predicted disease-associated mutation (hemizygous)
No other abnormal DNA sequence variants were identified in the remainder of the coding sequence or intron/exon junctions of this gene.
Please could you let me know which Exon skipping might help my son?
Thank you very so much for your help.
-Melanie
Julie, you are so good with this! I was wondering about this myself. My son has a stop codon on exon 6-so he'd need a skip of 7 and 8?
Hi Tracey, as stop codon in 6 would require a triple skip - 6,7 and 8.
:)
Tracey Hartz said:Julie, you are so good with this! I was wondering about this myself. My son has a stop codon on exon 6-so he'd need a skip of 7 and 8?
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