Common copy number variations in fifty radiosensitive cell lines.
Hypersensitivity to radiation exposure is a major challenge to radiotherapy in the treatment of cancer patients. Copy number variations (CNVs) are believed to identify genomic regions of functional significance for radiosensitivity (RS) but have yet to be systematically investigated. We used Affymetrix 6.0 SNP arrays to survey common CNVs in a cohort of 50 radiosensitive lymphoblastoid cell lines (RS-LCLs) derived from patients with undiagnosed diseases. A total of 317 CNVs that were present in at least 10% of the studied cell lines were identified. Three hundred and eight CNVs overlapped with polymorphic CNVs, 13 of which were significantly enriched in the RS-LCLs compared to the reference. The remaining 9 CNVs were novel. The majority of these enriched and novel CNVs were chromosomal gains. The dominance of the chromosomal gains over losses is inconsistent with the traditional concept of molecular basis of RS and suggests more complex genetic mechanisms for RS.
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095, USA. Xinminli@mednet.ucla.edu
Xinmin
X
Li
Jian
J
Zhou
Shareef A
SA
Nahas
Haolei
H
Wan
Hailiang
H
Hu
Richard A
RA
Gatti
D002460:Cell Line; D002470:Cell Survival / Q000235:genetics / Q000528:radiation effects*; D043171:Chromosomal Instability; D002877:Chromosomes, Human / Q000235:genetics; D056915:DNA Copy Number Variations; D020440:Gene Duplication; D020869:Gene Expression Profiling; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D011110:Polymorphism, Genetic; D011836:Radiation Tolerance / Q000235:genetics*