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Recurrent Patterns of Dual RB and p53 Pathway Inactivation in Melanoma
Guang Yang, Anpuchchelvi Rajadurai, Hensin Tsao Journal of Investigative Dermatology Volume 125, Issue 6, Pages (December 2005) DOI: /j X x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions
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Figure 1 Predicted effects of CDKN2A exon 2 mutations on melanoma cell lines investigated in study. Using PolyPhen, the predicted effects of exon 2 mutations on p16 and p14ARF in nine melanoma cell lines are shown. In the p14ARF reading frame, one point mutation had no effect, one point mutation had a “benign effect,” three point mutations had a “possibly damaging” effect, two point mutations had a “probably damaging” effect, and two mutations were deleterious. In the p16 reading frame, three point mutations had a “probably damaging” effect while six mutations were deleterious. Journal of Investigative Dermatology , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions
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Figure 2 Predicted effects of published CDKN2A exon 2 mutations. Using PolyPhen, the predicted effects of 117 published exon 2 missense mutations on p16 and p14ARF are shown. The breakdown by functional group (i.e., synonymous, benign, possibly damaging, probably damaging, and deleterious) is shown in (A), while the ratio of p16/p14ARF PSIC scores (see text) by codon number is shown in (B). Journal of Investigative Dermatology , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions
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Figure 3 Multiplex PCR showing homozygous deletions of individual exons in designated cell lines. SK-Mel 28, which harbors a CDK4 mutation, is a positive control showing retention of CDKN2A exons 1α, 1β, and 2, whereas MM455 is a negative control showing homozygous deletions of these exons. Arrows define size of individual amplicons derived from each exon. Journal of Investigative Dermatology , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions
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Figure 4 Summary of common CDKN2A genetic lesions in melanoma cell lines. Journal of Investigative Dermatology , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions
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