Chromosoma

, Volume 118, Issue 2, pp 269–277

A satellite-like sequence, representing a “clone gap” in the human genome, was likely involved in the seeding of a novel centromere in macaque

  • Lucia Carbone
  • Pietro D’addabbo
  • Maria Francesca Cardone
  • Maria Grazia Teti
  • Doriana Misceo
  • Gery M. Vessere
  • Pieter J. de Jong
  • Mariano Rocchi
Research Article

Abstract

Although the human genome sequence is generally considered “finished”, the latest assembly (NCBI Build 36.1) still presents a number of gaps. Some of them are defined as “clone gaps” because they separate neighboring contigs. Evolutionary new centromeres are centromeres that repositioned along the chromosome, without marker order variation, during evolution. We have found that one human “clone gap” at 18q21.2 corresponds to an evolutionary new centromere in Old World Monkeys (OWM). The partially sequenced gap revealed a satellite-like structure. DNA stretches of the same satellite were found in the macaque (flanking the chromosome 18 centromere) and in the marmoset (New World Monkey), which was used as an outgroup. These findings strongly suggested that the repeat was present at the time of novel centromere seeding in OWM ancestor. We have provided, therefore, the first instance of a specific sequence hypothesized to have played a role in triggering the emergence of an evolutionary new centromere.

Supplementary material

412_2008_196_MOESM1_ESM.pdf (1.1 mb)
ESM 1(PDF 1.13 MB)

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Lucia Carbone
    • 1
  • Pietro D’addabbo
    • 2
  • Maria Francesca Cardone
    • 2
  • Maria Grazia Teti
    • 2
  • Doriana Misceo
    • 2
  • Gery M. Vessere
    • 1
  • Pieter J. de Jong
    • 1
  • Mariano Rocchi
    • 2
  1. 1.Children’s Hospital Research InstituteOaklandUSA
  2. 2.Department of Genetics and MicrobiologyUniversity of BariBariItaly

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