Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family

Xiaohong R. Yang, Kevin Brown, Maria T. Landi, Paola Ghiorzo, Celia Badenas, Mai Xu, Nicholas K. Hayward, Donato Calista, Giorgio Landi, William Bruno, Giovanna Bianchi-Scarrà, Paula Aguilera, Susana Puig, Alisa M. Goldstein, Margaret A. Tucker

Research output: Contribution to journalArticlepeer-review


Copy number variations (CNVs) have been shown to contribute substantially to disease susceptibility in several inherited diseases including cancer. We conducted a genome-wide search for CNVs in blood-derived DNA from 79 individuals (62 melanoma patients and 17 spouse controls) of 30 high-risk melanoma-prone families without known segregating mutations using genome-wide comparative genomic hybridization (CGH) tiling arrays. We identified a duplicated region on chromosome 4q13 in germline DNA of all melanoma patients in a melanoma-prone family with three affected siblings. We confirmed the duplication using quantitative PCR and a custom-made CGH array design spanning the 4q13 region. The duplicated region contains 10 genes, most of which encode CXC chemokines. Among them, CXCL1 (melanoma growth-stimulating activity α) and IL8 (interleukin 8) have been shown to stimulate melanoma growth in vitro and in vivo. Our data suggest that the alteration of CXC chemokine genes may confer susceptibility to melanoma. Published 2012. This article is a US Government work and is in the public domain in the USA.

Original languageEnglish
Pages (from-to)243-247
Number of pages5
JournalPigment Cell and Melanoma Research
Issue number2
Publication statusPublished - Mar 2012


  • Chromosome 4q13
  • CXC chemokines
  • Disease susceptibility
  • Familial melanoma
  • Germline copy number variations

ASJC Scopus subject areas

  • Dermatology
  • Oncology
  • Biochemistry, Genetics and Molecular Biology(all)


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