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Heterochromatin is compact DNA that consists primarily of genetically inactive satellite sequences and that is involved in gene regulation and chromosomal integrity. Centromeres and telomeres, and pericentric and subtelomeric regions, contain constitutive heterochromatin (C-bands). Human lineage-specific changes include heterochromatin expansion, such as the appearance of novel C-bands on chromosomes 1, 9, 16 and Y, and unique alphoid sequences (satellite sequences involved in centromere function and comprising a large portion of centeromeric sequence content) resulting from rapid evolution of alpha satellites in the primate lineage. There are also unique duplication insertion sites of alpha satellite DNA in humans involving 16p11 and 4q24 and chromosomal human alphoid sequences that exist in unique locations compared to those of non-human primates.
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Gene copy number variation spanning 60 million years of human and primate evolution., , Genome Res, 09/2007, Volume 17, Issue 9, p.1266-77, (2007)
Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11., , Hum Mol Genet, 01/2000, Volume 9, Issue 1, p.113-23, (2000)
Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization., , Genomics, 01/1995, Volume 25, Issue 2, p.477-84, (1995)
The origin of man: a chromosomal pictorial legacy., , Science, 03/1982, Volume 215, Issue 4539, p.1525-30, (1982)