Sentences with phrase «cohesin genes»

«This also raises the possibility that mild mutations in cohesin genes may be the cause of some fraction of congenital heart defects in the general population,» she says.

His research currently focuses on determining the mechanisms and consequences of cohesin gene inactivation in human cancer.

Not exact matches

Mutations in the genes encoding proteins that regulate cohesin and cohesin protein itself cause the developmental disorder Cornelia de Lange syndrome (CdLS).

Cohesin controls gene expression and chromatin structure, as well as enabling chromosomes to separate correctly immediately prior to cell division.

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.

«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.

Unless sufficient cohesin was present in the developing mouse brain, the researchers showed that the regulation of a number of genes was disrupted, leading to neuronal defects and increased anxiety.

In previous studies, researchers proved in mice that genes of the meiotic cohesin complex produce various degrees of infertility in mice.

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.

«By knowing which of the Cohesin / CTCF bound sites are coming together in physical proximity, we started to go from a linear view of the genome to sets of looping interactions, which led us to these domains, these super enhancer domains, where gene expression enhancement is contained within the loop,» says Jill Dowen, a postdoctoral researcher in Young's lab.

In the ESCs they studied, the scientists identified 197 Cohesin / CTCF - flanked loops that contain active genes and enhancers, and 349 loops that contain repressed genes.

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.

This means that cohesin has at least the potential to influence a whole bunch of other chromosomal events, like DNA replication, gene expression and DNA topology.

Our results have revealed that although condensin and cohesin bind to the same gene loci, they direct different association networks (Figure).

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.

In the figure: ChIA - PET genomic analyses successfully mapped condensin (left) and cohesin (right)- mediated gene contacts throughout the fission yeast genome.