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. 2013 Feb 7;92(2):301–306. doi: 10.1016/j.ajhg.2012.12.015

Figure 3.

Figure 3

Structure and Gene Content of the Unaffected and Affected Y Chromosomes

(A) The structure of the unaffected (VII-24 in Figure 1) Y chromosome. Grey and black: errors and gaps, respectively, in the GRCH37 assembly. Blue: region matching the reference sequence at the level of resolution used. Shown below are part of the TSPY1 array (blue arrowheads) and the location of BAC clone signals identified in Figure 2.

(B) Structure of the affected (VIII-2 in Figure 1) Y chromosome. This chromosome contains a segment that is not in the unaffected chromosome; this segment is derived from duplications of sequences from both chromosome 1 (yellow) and the Y chromosome (blue). Again, the gene content and BAC signals are shown below. The arrowheads above indicate the orientation of the duplicated segments relative to the reference sequence.

(C) Detailed view of the two chromosome 1-Y junctions studied at the sequence level (Figures S2 and S3), showing the difference between the simple structure of junction 1 and the complex structure of junction 2.