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Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.

Authors: Giuliana G. Giannuzzi, Eugenia E. Migliavacca, Alexandre A. Reymond
Published: 06/10/2014, Genome research


Human and chimpanzee genomes are 98.8% identical within comparable sequences. However, they differ structurally in nine pericentric inversions, one fusion that originated human chromosome 2, and content and localization of heterochromatin and lineage-specific segmental duplications. The possible functional consequences of these cytogenetic and structural differences are not fully understood and their possible involvement in speciation remains unclear. We show that subtelomeric regions--regions that have a species-specific organization, are more divergent in sequence, and are enriched in genes and recombination hotspots--are significantly enriched for species-specific histone modifications that decorate transcription start sites in different tissues in both human and chimpanzee. The human lineage-specific chromosome 2 fusion point and ancestral centromere locus as well as chromosome 1 and 18 pericentric inversion breakpoints showed enrichment of human-specific H3K4me3 peaks in the prefrontal cortex. Our results reveal an association between plastic regions and potential novel regulatory elements.

© 2014 Giannuzzi et al.; Published by Cold Spring Harbor Laboratory Press.
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