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Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma‐prone family
Author(s) -
Yang Xiaohong R.,
Brown Kevin,
Landi Maria T.,
Ghiorzo Paola,
Badenas Celia,
Xu Mai,
Hayward Nicholas K.,
Calista Donato,
Landi Giorgio,
Bruno William,
BianchiScarrà Giovanna,
Aguilera Paula,
Puig Susana,
Goldstein Alisa M.,
Tucker Margaret A.
Publication year - 2012
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/j.1755-148x.2012.00969.x
Subject(s) - gene duplication , genetics , gene , chromosome , biology
Summary 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.