Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans.

摘要: During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from homologous chimpanzee (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in breakpoint regions, which most probably occurred associated with inversion. The break PTR10p caused disruption SLCO1B3 gene exon 11. However, 86-kb duplication includes functional locus, is thus retained chimpanzee, although inverted to PTR10q. second spans does not contain expressed sequences. Eleven genes map a region about 1 Mb around breakpoints. Six these eleven are among differentially as determined previously by comparing transcriptome fibroblast cell lines, blood leukocytes, liver brain samples. These findings imply did cause major expression differences genes. Comparative FISH analysis BACs spanning breakpoints PTR on metaphase chromosomes gorilla (GGO) confirmed homologs GGO have distinct humans retain ancestral arrangement. coincide trend hominoid karyotype evolution close an one, while African great apes present more derived arrangements.