Table 1.
Potential hotspots of copy number variation in humans and chimpanzees
| BAC Name | Location* |
Chimpanzee CNVs incidence† | Human CNVs incidence‡ | RefSeq genes (function)§ | |
|---|---|---|---|---|---|
| Chr. location in humans | Position (Mb) | ||||
| RP1-163M9¶ | 1p36.13 | 16.4 | 2 | 23 | |
| RP6-65F20 | 1p32.2 | 56.8 | 10 | 16 | DAB1 (cell differentiation; nervous system development) |
| RP11-91G12 | 1q31.3 | 193.9 | 2 | 3 | CFH (immune response), CFHL3 (unknown) |
| RP5-963K6¶ | 4q35.2 | 191.3 | 2 | 7 | |
| RP11-88L18¶ | 5p15.1 | 17.5 | 17 | 10 | |
| AL035696.14¶ | 6p25.3 | 0.1 | 3 | 13 | |
| RP11-96G1¶ | 8q21.2 | 86.6 | 3 | 18 | REXO1L1 (exonuclease and hydrolase activity) |
| RP11-130C19 | 9p24.3 | 0.6 | 2 | 3 | ANKRD15 (cell cycle and growth) |
| RP11-100C24 | 13q21.1 | 55.5 | 5 | 29 | FLJ40296 (unknown) |
| RP11-499D5¶ | 16p11.2 | 33.7 | 4 | 11 | TP53TG3 (unknown) |
| C197.4 | 17p13.3 | 2.5 | 2 | 3 | RUTBC1 (unknown) |
| MNT (transcription factor; development) | |||||
| RP11-79F15¶ | 19p13.2 | 8.7 | 3 | 34 | ZNF558 (transcription factor), MBD3L1 (transcription factor) |
| RP11-49J9 | 21q21.1 | 21.0 | 2 | 2 | |
| RP6-27C10 | Xp21.3 | 28.5 | 12 | 16 | IL1RAPL1 (learning and/or memory; signal transduction) |
| AL031643.1 | Xp21.1 | 32.6 | 10 | 21 | DMD (cytoskeleton; muscle activity) |
| RP6-64P14 | Xq25 | 120.7 | 9 | 16 | |
| RP6-232G24 | Xq27.2 | 139.7 | 13 | 18 | MAGEC3 (unknown), MAGEC1 (unknown) |
*Cytogenetic location and physical position (in Mb) of BAC clones, based on the human reference genome sequence (Build 34).
†Number of chimpanzees (of 20) for whom gains/losses (relative to the reference chimpanzee individual, Clint) were detected in this study using the 1-Mb aCGH platform.
‡Total number of human individuals for whom gains/losses were detected for the regions overlapping/encompassing a given BAC clone. Human CNV data were collected from different studies (1–4, 7, 8).
§RefSeq genes partially or completely contained within the BAC sequence and gene function based on GO categories.
¶These seven clones overlap with ancestral segmental duplications (as classified by ref. 33).