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. 2012 Oct 24;122(11):3990–4002. doi: 10.1172/JCI65508

Figure 1. The translocation t(4;12)(q13.2-13.3;p11.2) and scheme of the 6C method.

Figure 1

(A) Translocation with der(4) and der(12). The hand roentgenogram, especially the shortened metacarpals of digits 4 and 5, are diagnostic of BDE. (B) 6C. Formaldehyde-crosslinked chromatin of C28/I2 chondrocytes was sonicated. After ChIP, the chromatin was blunt-end repaired and ligated at ultra-high dilution to favor intramolecular ligation events. Chromatin loops were PCR amplified with inverse oligos, and the amplicons were subcloned and sequenced. PTHLH and SOX9 promoters were the bait sequences. (C) Example of PTHLH 6C. Several bp were inserted due to the end repair of chromatin fragments. The interacting sequence was located at 52,431,496 bp on chromosome 12 (positions in bp; UCSC assembly hg18). In trans event in SOX9 6C. The interacting element on chromosome 12 was identified next to the bait sequence of the SOX9 promoter. (D) Restrictive classification of the 6C sequence reads. Either the promoter (bait) or the promoter interaction with any sequence was counted. (E) PTHLH and SOX9 mRNA expression in human C28/I2 and LCL.