Genome stability: What we have learned from cohesinopathies. Issue 2 (19th April 2016)

• Record Type: Journal Article
• Authors: Cucco, Francesco; Musio, Antonio
• Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 172:Issue 2(2016)
• Page Start: 171
• Page End: 178
• Publication Date: 2016-04-19
• Subjects: genome instability -- cohesin -- Cornelia de Lange syndrome -- Roberts syndrome -- Warsaw Breakage syndrome; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31492
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : Cohesin is a multiprotein complex involved in many DNA‐related processes such as proper chromosome segregation, replication, transcription, and repair. Mutations in cohesin gene pathways are responsible for human diseases, collectively referred to as cohesinopathies. In addition, both cohesin gene expression dysregulation and mutations have been identified in cancer. Cohesinopathy cells are characterized by genome instability (GIN) visualized by a constellation of markers such as chromosome aneuploidies, chromosome aberrations, precocious sister chromatid separation, premature centromere separation, micronuclei formation, and sensitivity to genotoxic drugs. The emerging picture suggests that GIN observed in cohesinopathies may result from the synergistic effects of the multiple cohesin dysfunctions. © 2016 Wiley Periodicals, Inc.