RT Journal
A1 Giannuzzi, Giuliana
A1 Migliavacca, Eugenia
A1 Reymond, Alexandre
T1 Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures
JF Genome Research 
JO Genome Research 
YR 2014 
FD September 01 
VO 24 
IS 9 
SP 1455 
OP 1468 
DO 10.1101/gr.167742.113 
UL http://genome.cshlp.org/content/24/9/1455.abstract 
AB 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.