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

Deworming pill may be effective in treating liver cancer

March 30, 2017

Hepatocellular carcinoma (HCC), a cancer associated with underlying liver disease and cirrhosis that often only becomes symptomatic when it is very advanced, is the second leading cause of cancer deaths around the world, ...

Study shows how BPA may affect inflammatory breast cancer

March 29, 2017

The chemical bisphenol A, or BPA, appears to aid the survival of inflammatory breast cancer cells, revealing a potential mechanism for how the disease grows, according to a study led by researchers in the Department of Surgery ...

Gene research gives new insight into pancreatic cancer

March 29, 2017

One reason pancreatic cancer has a particularly low survival rate is the difficulty in getting drugs to the tumour, but new knowledge of how pancreatic cancer cells invade neighbouring cells could change that.

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.