The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.
Cohesin is responsible for sister chromatid cohesion, ensuring the correct chromosome segregation. Beyond this role, cohesin and regulatory cohesin genes seem to play a role in preserving genome stability and gene transcription regulation. DNA damage is thought to be a major culprit for many human diseases, including cancer. Our present knowledge of the molecular basis underlying genome instability is extremely limited. Mutations in cohesin genes cause human diseases such as Cornelia de Lange syndrome and Roberts syndrome/SC phocomelia, and all the cell lines derived from affected patients show genome instability. Cohesin mutations have also been identified in colorectal cancer. Here, we will discuss the human disorders caused by alterations of cohesin function, with emphasis on the emerging role of cohesin as a genome stability caretaker.
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa, Italy.
Linda
L
Mannini
Stefania
S
Menga
Antonio
A
Musio
D018797:Cell Cycle Proteins / Q000235:genetics* / Q000502:physiology; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000502:physiology; D003635:De Lange Syndrome / Q000235:genetics / Q000503:physiopathology; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D042822:Genomic Instability; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics / Q000503:physiopathology; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology; D000097722:Cohesins
D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000097722:Cohesins