Ebert is the primary researcher studying Interaction of RUNX1 and the cohesin
complex in megakaryocyte development and myeloid disease.
5] In sporadic and familial cases, mutations of the NIPBL (nipped-B-like) gene, which is a cohesin
regulator at the 5th chromosome, have been described.
Most are held in place by proteins called CTCF and cohesin
sup] In addition, mutations in the cohesin
complex genes such as RAD21 homolog ( Schizosaccharomyces pombe ), structural maintenance of chromosomes 1A ( SMC1A ), SMC3 , Stromal Antigen 2, and spliceosome complex genes such as splicing factor 3B subunit 1, serine/arginine-rich splicing factor 2, and U2 small nuclear RNA auxiliary factor 1 have been discovered recently and reported to be mutually exclusive, further indicating the redundant potential for leukemogenesis.
51-53) Most of the newly identified mutations are not categorized as typical class I or class II mutations and include mutations of splicing factors, epigenetic factors, signaling proteins and molecules of the cohesin
complex (Table 2).
SMC1A encodes a protein that is part of the cohesin
protein complex and is involved in sister chromatid cohesion during the cell cycle (Bauerschmidt et al.
During the ensuing decade cohesin
is emerging as the master regulator of genome stability and its related genes have been found to be highly relevant to diverse human malignancies.
Through examinations of patients suffering from myelodysplastic syndrome, a type of myelogenetic blood cancer, the team found that four types of genes -- which produce the cohesin
protein complex that coordinates gene action -- suppress the growth of cancer cells.
One new area of interest that the work points towards is genes involved in the cohesin
complex, a group of proteins that helps shepherd chromosomes into the right place throughout cell division.
This finding is in agreement with the conclusion that the counter-tension produced by the cleavage of the kleisin subunit of cohesin
observed when all sister chromatids are in mitosis (Jones, 2010) or all bivalents are in meiosis (Dumont et al.
9,10 It can be associated with mutations affecting the cohesin
By tracking chromosomes during division in the egg, the Newcastle team found that the reduced Cohesin
in eggs from older females resulted in some chromosomes becoming trapped and being unable to divide properly.