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. 2022 Nov 10;109(12):2270–2282. doi: 10.1016/j.ajhg.2022.10.007

Figure 4.

Figure 4

Demonstration of de novo status and breakpoint sequence of TCEAL1 deletion and local genomic architecture at the TCEAL1 locus in individual 5

(A) Junction PCR confirms the de novo nature of the TCEAL1 deletion in individual 5.

(B) Nucleotide resolution of the deletion breakpoint-junction demonstrates a 77 bp homology.

(C) The human genome reference sequence (GRCh37/hg19) surrounding the proximal and distal breakpoint sites is provided (top and bottom), mapped to the sequence of the deletion breakpoint-junction (middle). Chromosome coordinates are provided for the start and end points of the displayed portions of the proximal and distal genome reference sequence, as well as for the nucleotide positions at the start and end of the 77 bp homology. Breakpoints map to SelfChain repeat pairs that are in direct orientation (indicated by ">>>" highlighted in red). Furthermore, the entire deletion and both SelfChain repeats are embedded within the larger repeat, RepX-i1010 (indicated by ">>>" highlighted in blue).

(D) The positions of RepX-i1010 and both SelfChain repeats within Xq22.2 are demonstrated. Black dotted lines illustrate the positions of the breakpoints in individual 5.