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Fig. 5 | Genome Biology

Fig. 5

From: The birth of a human-specific neural gene by incomplete duplication and gene fusion

Fig. 5

HYDIN2 and chromosome 1q21 rearrangement breakpoint variability. We genotyped 73 patients carrying either the chromosome 1q21 microdeletion (n = 48) or microduplication (n = 25) for HYDIN2 copy number using MIPs. a Patients were genotyped using 717 MIPs targeting variants that distinguish HYDIN paralogs. Points show HYDIN paralog-specific copy number estimates (red, HYDIN; blue, HYDIN2) for two microdeletion (13507.p1 and SAL_703574) and two microduplication (12420.p1 and 14813.x10) patients. Patients 13507.p1 and 12420.p1 show deletion and duplication of HYDIN2, respectively, while SAL_703574 and 14813.x10 do not. b Summary of results across 45 independent microdeletion and microduplication events from 73 individuals based on MIP sequencing and analysis. Approximately 91% of 1q21 rearrangements examined include HYDIN2. c Array CGH results confirm 1q21 rearrangements in the samples in panel a and copy number changes of HYDIN2 (blue shading) only in patients 13507.p1 and 12420.p1. Note: log2 hybridization signal intensity (y-axis) values are depressed when compared to unique sequence due to duplicated nature of sequence (red = deletion signal; blue = duplication signal). Results are shown for a 4.5 Mbp region at chromosome 1q21 (GRCh38 chr1: 145,500,001–150,000,000) with genes and segmental duplications annotated (orange = 99% sequence identity or above; yellow = 98–99%; gray = 90–98%). Orange triangles indicate high-identity, directly oriented NOTCH2NL-NBPF duplications, with putative breakpoints of the canonical 1q21 rearrangement shown as vertical gray dashed lines. Shown below are the locations of NBPF core duplicons

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