Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors  Sven Hoffmeyer, Peter Nürnberg, Heide Ritter, Raimund.

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Presentation on theme: "Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors  Sven Hoffmeyer, Peter Nürnberg, Heide Ritter, Raimund."— Presentation transcript:

1 Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors 
Sven Hoffmeyer, Peter Nürnberg, Heide Ritter, Raimund Fahsold, Werner Leistner, Dieter Kaufmann, Winfrid Krone  The American Journal of Human Genetics  Volume 62, Issue 2, Pages (February 1998) DOI: /301715 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Exon 7 skipping: RT-PCR analysis. The agarose gel was stained by ethidium bromide. PCR products were derived from cDNA of NF1 patients U-NF259 and U-NF262 (lanes 2 and 3). Lane 1, 100-bp ladder. The American Journal of Human Genetics  , DOI: ( /301715) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Exon 37 skipping: RT-PCR analysis. The agarose gel was stained by ethidium bromide. PCR products are derived from cDNA of NF1 patients B-NF2, B- NF3, B-NF6, B-NF7, B-NF8,B-NF4, B-NF5, and B-NF9 (lanes 2– 9, respectively). Lane 1, Size marker. The American Journal of Human Genetics  , DOI: ( /301715) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Localization of different stop mutations within exon 37 of the NF1 gene. The American Journal of Human Genetics  , DOI: ( /301715) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Minimum-free-energy structures for exon 7. The sequences contain +/− 50 bases downstream and upstream, respectively, of the 3′ splice site. a, Wild-type sequence of intron 6 and exon 7. b, Sequence of intron 6 and exon 7, including mutation 918delT. c, Sequence of intron 6 and exon 7, including mutation C910T. The American Journal of Human Genetics  , DOI: ( /301715) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Minimum-free-energy structure for exon 37, including mutation C6792A. The sequence contains +/− 120 bases downstream and upstream, respectively, of the 3′ splice site. The American Journal of Human Genetics  , DOI: ( /301715) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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