Researchers describe new functions of cohesin relevant for human disease

May 3, 2012

Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure. Vertebrate somatic cells have two versions of cohesin that contain either SA1 or SA2, but their functional specificity has been largely ignored. Researchers of the Spanish National Cancer Research Centre (CNIO) under the direction of Ana Losada have identified new functions of cohesin SA1 that are relevant for two human diseases, cancer and Cornelia de Lange Syndrome (CdLS). These results are published in two papers that appear this week back-to-back in EMBO Journal.

The first study shows that SA1 is required for efficient duplication of chromosome ends, the telomeres. In its absence, aberrant telomere structures hinder during cell division and aneuploid cells (i.e., with an incorrect number of chromosomes) are generated. This likely contributes to accelerate the onset of tumourigenesis in SA1 deficient mice. The appearance of certain types of pancreatic tumours, extremely rare in mice, is particularly striking. This mouse model may turn out to be a very useful tool for the study of pancreatic cancer.

The second study reports for the first time a precise map of the distribution of cohesin SA1 and cohesin SA2 along the mouse genome. Moreover, it uncovers an essential role of cohesin SA1 in the regulation of gene expression during . Lack of cohesin SA1 alters the transcription of genes involved in biological processes related to CdLS. This developmental disorder affects 1:30,000 newborns and is characterized by growth and mental retardation and multiple organ abnormalities. The study offers new clues to understand the origin of the pathologies observed in CdLS patients.

"This work represents an important step towards better understating the role of cohesin in such relevant human diseases as cancer and CdLS", comment Silvia Remeseiro and Ana Cuadrado, co-authors of the two papers.

Related Stories

Recommended for you

Scientists discover possible master switch for programming cancer immunotherapy

December 11, 2017
During infection or tumor growth, a type of specialized white blood cells called CD8+ T cells rapidly multiply within the spleen and lymph nodes and acquire the ability to kill diseased cells. Some of these killer T cells ...

A new weapon against bone metastasis? Team develops antibody to fight cancer

December 11, 2017
In the ongoing battle between cancer and modern medicine, some therapeutic agents, while effective, can bring undesirable or even dangerous side effects. "Chemo saves lives and improves survival, but it could work much better ...

Liver cancer: Lipid synthesis promotes tumor formation

December 11, 2017
Lipids comprise an optimal energy source and an important cell component. Researchers from the Biozentrum of the University of Basel and from the University of Geneva have now discovered that the protein mTOR stimulates the ...

Use of chemotherapy for early stage breast cancer declines, study says

December 11, 2017
A study of nearly 3,000 women with early stage breast cancer indicates a recent, significant decline in the use of chemotherapy despite the lack of any change in national treatment recommendations or guidelines, according ...

Researchers identify epigenetic orchestrator of pancreatic cancer cells

December 11, 2017
Genentech researchers have identified an enzyme that shifts pancreatic cancer cells to a more aggressive, drug-resistant state by epigenetically modifying the cells' chromatin. The study, which will be published December ...

CAR T, immunotherapy bring new hope for multiple myeloma patients

December 11, 2017
Two investigational immunotherapy approaches, including chimeric antigen receptor (CAR) T cell therapy, have shown encouraging results in the treatment of multiple myeloma patients who had relapsed and were resistant to other ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.