The authors have stated that the coordinates of two deletions of the CFHR gene cluster on chromosome 1 represent the outer boundaries of the deletion interval based on patterns of sequence identity and included both copies of the duplicated sequence where breakpoint definition is difficult. For CNP147, this interval of 86.302kbp (chr1: 194988828-195075129) includes 1617 bp of 100% identical sequence located at the 5' and 3' breakpoints. Since the deletion allele retains a single copy of this sequence by virtue of non-allelic homologous recombination, the CNP147 deletion event in fact removes 84.685 kbp, a size consistent with the findings of Hughes et al. (Hughes et al Nature Genetics, volume 38, 1173-1177, 2006). Similarly, the reported boundaries for CNP148 with an interval of 121.959 kbp (chr1: 195049336- 195171294) include a 59 bp segment of identical sequence at each breakpoint and therefore results in a loss of 121.9 kbp. The CNP148 breakpoints are further embedded within an extended segment of high sequence identity (> 1kbp and 99% identity). The authors would like to make multiple corrections.
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Agricultural and Biological Sciences(all)