Since the discovery and characterization of the first case of a human neocentromere in our laboratory a decade ago, 60 examples of constitutional human neocentromeres distributed widely across the genome have been described.

Typically, these are located on marker chromosomes that have been detected in children with developmental delay or congenital abnormalities.

Neocentromeres have also been detected in at least two types of human cancer and have been experimentally induced in Drosophila.

Current evidence from human and fly studies indicates that neocentromere activity is acquired epigenetically rather than by any alteration to the DNA sequence.

Since human neocentromere formation is generally detrimental to the individual, its biological value must lie beyond the individual level, such as in karyotype evolution and speciation

References

 Amor DJ, Choo KH. Neocentromeres: role in human disease, evolution, and centromere study. Am J Hum Genet. 2002 Oct;71(4):695-714. PMID: #12196915#

 Koch J. Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA. Hum Mol Genet. 2000 Jan 22;9(2):149-54. PMID: #10607825#