Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

Abstract

[This corrects the article DOI: 10.1371/journal.pone.0025598.].

Fig 2. Validation of CNPs in the HapMap samples.

(2a) UCSC browser view (http://humanparalogy.gs.washington.edu/) showing organization and structural variation in the RCA gene cluster. Red bars indicate the sites of structural variation in eight individuals underwent fosmid pair-end sequencing. Deletions at CNP147 and CNP148 were using high-resolution tiling-path custom array-based CGH. Probes with log2 ratios below or above a threshold of 1.5 s.d. from the normalized mean log2 ratio are colored red (deletions) or green (duplication), respectively. (2b) and (2c) Alignment of sequenced fosmid inserts against the human genome assembly (build36) confirms the extent of two deletions in the CFHR cluster on chromosome 1. Clone AC213924, derived from sample NA18507, corresponds to deletion CNP147 (2b). This variant removes 84.685 kbp of sequence from an 86.302 kbp interval (chr1:194,988,828–195,075,129, build36), while retaining one copy of a 1,617 bp segment of identical sequence found at each breakpoint and resulting in loss of the CFHR3 and CFHR1 genes. Clone AC210432, derived from sample NA18956, corresponds to deletion CNP148 (2c). This variant removes 121.9 kbp of sequence from a 121.959 kbp interval (chr1:195,049,336–195,171,294), while retaining one copy of a 59 bp segment found at both breakpoints. The CNP148 breakpoints are further embedded within an extended stretch of high sequence identity (>1kbp; >99%). Please note that in (2b) and (2c) the lengths of the deletion intervals for CNP147 and CNP148 are rounded to one decimal place.