Neocentromeres: New Insights into Centromere Structure, Disease Development, and Karyotype Evolution

• Published in: American journal of human genetics Vol. 82; no. 2; pp. 261 - 282
• Main Authors: Marshall, Owen J., Chueh, Anderly C., Wong, Lee H., Choo, K.H. Andy
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01-02-2008; University of Chicago Press; American Society of Human Genetics
• Subjects: Biological and medical sciences; Centromere - genetics; Centromere - physiology; Chromosome Aberrations; Epigenesis, Genetic - genetics; Evolution, Molecular; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Speciation; Genetics of eukaryotes. Biological and molecular evolution; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Neoplasms - genetics; Review; Human; Molecular evolution; Centromere; Disease; Cytogenetics; Development; Genetics; Structure; Karyotype
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1016/j.ajhg.2007.11.009

Since the discovery of the first human neocentromere in 1993, these spontaneous, ectopic centromeres have been shown to be an astonishing example of epigenetic change within the genome. Recent research has focused on the role of neocentromeres in evolution and speciation, as well as in disease development and the understanding of the organization and epigenetic maintenance of the centromere. Here, we review recent progress in these areas of research and the significant insights gained.