Analyses of CDC2L1 gene mutations in keloid tissue.

Background. Keloid disease is the result of a deregulated wound-healing process. Loss of heterozygosity on chromosome 1p36 has been shown to be associated with keloid formation in humans. The cell division cycle 2-like 1 (CDC2L1) gene is known to be essential for eukaryotic cell-cycle control, and has also been mapped to 1p36. Aim. To verify the possible association between keloid disease and somatic mutation of the CDC2L1 gene on chromosome 1p36. Methods. Mutations of the CDC2L1 gene in keloid and healthy skin tissues were screened by denaturing high- performance liquid chromatography, and confirmed by DNA sequencing analysis. Results. Of the 27 patients with keloid assessed, 21 had mutations. The most prevalent exon affected was exon 7, with 15 patients affected: 10 patients (37%) had a base G deletion at codon 247, and 12 patients (44.4%) had a base A insertion at codon 267 (6 patients (25.9%) had both mutations). The remaining six patients had mutations in exons 11 (codon 433; n = 3) and 14 (codon 520; n = 3). Comparing the keloid skin tissues with the healthy control skin tissues, significant differences were seen between the groups for the base G deletion at codon 247 and the base A insertion at codon 267. Conclusions. We have identified a correlation between two exon 7 mutations of the CDC2L1 gene and keloid disease. A further study of protein- kinase activity should be conducted