title: Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.
abstract: 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.
authors.affiliation: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; giuliana.giannuzzi@unil.ch alexandre.reymond@unil.ch.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Giannuzzi
authors.affiliation: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Migliavacca
authors.affiliation: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; giuliana.giannuzzi@unil.ch alexandre.reymond@unil.ch.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
mesh_terms: D000818:Animals; D002503:Centromere / Q000235:genetics*; D002869:Chromosome Aberrations; D056905:Chromosome Breakpoints; D015894:Genome, Human; D006657:Histones / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009928:Organ Specificity; D002679:Pan troglodytes / Q000235:genetics; D017397:Prefrontal Cortex / Q000378:metabolism; D013045:Species Specificity; D016615:Telomere / Q000235:genetics*; D024363:Transcription Initiation Site
chemical_list: D006657:Histones