期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 172, 期 2, 页码 171-178出版社
WILEY
DOI: 10.1002/ajmg.c.31492
关键词
genome instability; cohesin; Cornelia de Lange syndrome; Roberts syndrome; Warsaw Breakage syndrome
资金
- Istituto Toscano Tumori
- Associazione Italiana Ricerca sul Cancro (AIRC)
- InterOmics Flagship project
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. (C) 2016 Wiley Periodicals, Inc.
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