Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)

Marta Giussani, Maria Francesca Cardone, Beatrice Bodega, Enrico Ginelli, Raffaella Meneveri

Research output: Contribution to journalArticlepeer-review


We performed a detailed genomic investigation of the chimpanzee locus syntenic to human chromosome 4q35.2, associated to the facioscapulohumeral dystrophy. Two contigs of approximately 150. kb and 200. kb were derived from PTR chromosomes 4q35 and 3p12, respectively: both regions showed a very similar sequence organization, including D4Z4 and Beta satellite linked clusters. Starting from these findings, we derived a hypothetical evolutionary history of human 4q35, 10q26 and 3p12 chromosome regions focusing on the D4Z4-Beta satellite linked organization. The D4Z4 unit showed an open reading frame (DUX4) at both PTR 4q35 and 3p12 regions; furthermore some subregions of the Beta satellite unit showed a high degree of conservation between chimpanzee and humans. In conclusion, this paper provides evidence that at the 4q subtelomere the linkage between D4Z4 and Beta satellite arrays is a feature that appeared late during evolution and is conserved between chimpanzee and humans.

Original languageEnglish
Pages (from-to)289-296
Number of pages8
Issue number5
Publication statusPublished - Nov 2012


  • 4q35
  • Beta satellite
  • Chimpanzee
  • D4Z4
  • FSHD
  • Primate evolution

ASJC Scopus subject areas

  • Genetics


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