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Figure 2 | BMC Genomics

Figure 2

From: Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

Figure 2

Genes and pseudogenes in DEF clusters a and b . Names correspond to the Vertebrate Genome Annotation, intergenic distances are scaled 1:10. Defensin and defensin like genes and pseudogenes are written in black, novel defensin genes and pseudogenes are underlined, other genes / transcripts are indicated in gray. DEF cluster a: The presence of four copies of the DEFA1/DEFTP tandem and the DEFA3 gene in [GenBank:AF200455] requires the illustrated clone alignment, resulting in a "widening" of the hg16 assembly, pictured by the striped gray box (corresponding to the yellow bar in Fig.1). Analysis of the intergenic distances (data not shown) suggests, that [GenBank:AF238378] harbors copies 2 and 4 of the DEFA1/DEFTP tandem whereas copy 3 is missing (dotted line). Since both clones are derived from the same library (SCb), either copy 3 is lost during the cloning process or the clones represent different alleles. DEF cluster b: The DEF cluster b is illustrated in the orientation of DEF cluster b1.

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