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MBE Advance Access originally published online on October 31, 2003
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Mol. Biol. Evol. 21(2):228-235. 2004
DOI: 10.1093/molbev/msh007
© 2004 by the Society for Molecular Biology and Evolution. ISSN: 0737-4038

Birth and Evolutionary History of a Human Minisatellite

Francisco Boán, Miguel G. Blanco, Javier Quinteiro, Susana Mouriño and Jaime Gómez-Márquez

Departamento de Bioquímica y Biología Molecular, Facultad de Biología, Universidad de Santiago, Galicia, Spain

E-mail: bnjgm{at}usc.es.

One of the most exciting challenges in human biology is the understanding of how our genome was constructed during evolution. Here we explore the evolutionary history of the low polymorphic human minisatellite MsH42 and its flanking sequences. We show that the evolutionary birth of MsH42 took place within an intron, early in primate lineage evolution, more than 40 MYA. Then, single base-pair changes and duplications/deletions of repeat blocks by mispairing were probably the main forces governing the generation of this minisatellite and its polymorphism throughout primate evolution. Moreover, we detected several phylogenetic footprints at both sides of MsH42. We believe that our findings will contribute to the understanding of low-variability minisatellite evolution.

Key Words: minisatellite evolution • phylogenetic footprint • primates • human minisatellite MsH42


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