A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred

Guang Yang, Kristin Baker Niendorf, Hensin Tsao

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


We report a novel germline Met53Val mutation in CDKN2A from a large melanoma-prone family; this mutation occurs in exon 2 of CDKN2A where p16 and alternative reading frame (ARF) both share transcript sequences. The previously reported Met53Ile and the current Met53Val mutations are coupled to distinct Asp68His and Asp67Gly alterations in ARF, respectively. The coincidence of second, independent p16 Met53 alteration that differentially alters ARF suggests that there may be selectivity for targeting the p16 transcript over the ARF transcript.

Original languageEnglish (US)
Pages (from-to)574-575
Number of pages2
JournalJournal of Investigative Dermatology
Issue number3
StatePublished - Sep 2004
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported in part by the Dermatology Foundation, American Skin Association and a Career Development Award in the Skin Cancer Specialized Program of Research Excellence (SPORE) through the National Institutes of Health (to H.T.).


  • CDKN2A
  • Hereditary melanoma
  • Met53Val


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