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 output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)269-277
Number of pages9
JournalChromosoma
Volume118
Issue number2
DOIs
StatePublished - 2009
Externally publishedYes

Fingerprint

Centromere
Macaca
Human Genome
Clone Cells
Cercopithecidae
Platyrrhini
Chromosomes, Human, Pair 18
Callithrix
Genetic Markers
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque. / Carbone, Lucia; D'addabbo, Pietro; Cardone, Maria Francesca; Teti, Maria Grazia; Misceo, Doriana; Vessere, Gery M.; de Jong, Pieter J.; Rocchi, Mariano.

In: Chromosoma, Vol. 118, No. 2, 2009, p. 269-277.

Research output: Contribution to journalArticle

Carbone, Lucia ; D'addabbo, Pietro ; Cardone, Maria Francesca ; Teti, Maria Grazia ; Misceo, Doriana ; Vessere, Gery M. ; de Jong, Pieter J. ; Rocchi, Mariano. / A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque. In: Chromosoma. 2009 ; Vol. 118, No. 2. pp. 269-277.
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