The evolutionary origin of man can be traced in the layers of defunct ancestral alpha satellites flanking the active centromeres of human chromosomes

• Published in: PLoS genetics 2009-09, Vol.5 (9), p.e1000641-e1000641
• Main Authors: Shepelev, Valery A, Alexandrov, Alexander A, Yurov, Yuri B, Alexandrov, Ivan A
• Format: Article
• Language: English
• Subjects: Animals; Centromere - genetics; Centromeres; Chromosomes; Chromosomes, Human - genetics; Cloning; DNA microarrays; DNA, Satellite; Endangered & extinct species; Evolution, Molecular; Evolutionary Biology/Genomics; Evolutionary Biology/Human Evolution; Genetics and Genomics/Chromosome Biology; Genomes; Humans; Male; Molecular Biology/Bioinformatics; Molecular Biology/Centromeres; Molecular Biology/Chromosome Structure; Molecular Biology/Molecular Evolution; Molecular Sequence Data; Monkeys & apes; Phylogenetics; Phylogeny; Physiological aspects; Primates - classification; Primates - genetics; Satellite DNA; Satellites
• ISSN: 1553-7404; 1553-7390; 1553-7404
• DOI: 10.1371/journal.pgen.1000641

Alpha satellite domains that currently function as centromeres of human chromosomes are flanked by layers of older alpha satellite, thought to contain dead centromeres of primate progenitors, which lost their function and the ability to homogenize satellite repeats, upon appearance of a new centromere. Using cladistic analysis of alpha satellite monomers, we elucidated complete layer patterns on chromosomes 8, 17, and X and related them to each other and to primate alpha satellites. We show that discrete and chronologically ordered alpha satellite layers are partially symmetrical around an active centromere and their succession is partially shared in non-homologous chromosomes. The layer structure forms a visual representation of the human evolutionary lineage with layers corresponding to ancestors of living primates and to entirely fossil taxa. Surprisingly, phylogenetic comparisons suggest that alpha satellite arrays went through periods of unusual hypermutability after they became "dead" centromeres. The layer structure supports a model of centromere evolution where new variants of a satellite repeat expanded periodically in the genome by rounds of inter-chromosomal transfer/amplification. Each wave of expansion covered all or many chromosomes and corresponded to a new primate taxon. Complete elucidation of the alpha satellite phylogenetic record would give a unique opportunity to number and locate the positions of major extinct taxa in relation to human ancestors shared with extant primates. If applicable to other satellites in non-primate taxa, analysis of centromeric layers could become an invaluable tool for phylogenetic studies.