«Regulator of chromosome structure crucial to healthy brain function and nerve development:
Cohesin protein identified as key to control of chromosome structure underlying nerve cell network formation.»
«Now, through our new study, we show that lowering levels of a particular
cohesin protein called Rad21 in embryonic zebrafish produces similar types of heart defects to those found in people with CdLS,» Associate Professor Horsfield says.
Mutations in the genes encoding proteins that regulate cohesin and
cohesin protein itself cause the developmental disorder Cornelia de Lange syndrome (CdLS).
Not exact matches
Research coordinated by Osaka University has now shown that the nuclear
protein complex
cohesin must be expressed at sufficient levels in the early mouse brain to control gene regulation and allow development of healthy neuronal networks and behavioral characteristics.
CdLS is known to result from mutations in subunits or regulators of
cohesin, a group of linked
proteins necessary for cell division and other cell processes.
«We also found that reduced
cohesin led to changes in the expression of genes involved in nerve cell development and the response to an immune signaling
protein,» corresponding author Toshihide Yamashita says.
Cohesin encircles the DNA strand as a ring does around a piece of string, and the
protein complexes that replicate DNA can pass through the ring without displacing it.
Cohesins are
protein complexes that bind two straps of DNA and are implicated in its repair, replication and recombination, as well as in its chromosomal stability, transcription regulation, stem - cell pluripotency, and cell differentiation.
CSIC researcher adds: «We have confirmed that mutation is found in both copies of the gene, one inherited from the father and the other one inherited from the mother, in the four women affected by the disease, causing an absolute absence of STAG3
protein and meiotic
cohesin complex in these women.
Hnisz, also a postdoctoral researcher in Young's lab, likens the loops to «goody bags», with
Cohesin and CTCF acting as the purse strings to create a DNA loop that cradles
proteins enhancing or repressing gene expression.
The
proteins Cohesin (blue lines) and CTCF (purple blocks) act as the purse strings of DNA «goody bags» (gray lines).
These studies demonstrate that the two important
protein complexes, condensin and
cohesin, are both essential for the assembly of the functional genome architecture, but their roles in the 3D genome organization (gene contacts and topological domain organization) are significantly different.
I also mentioned a
protein complex, which is integral for this chromosomal ballet, the
cohesin complex.