PUBLICATION
How many roads lead to cohesinopathies?
- Authors
- Banerji, R., Skibbens, R.V., Iovine, M.K.
- ID
- ZDB-PUB-170526-25
- Date
- 2017
- Source
- Developmental Dynamics : an official publication of the American Association of Anatomists 246(11): 881-888 (Review)
- Registered Authors
- Iovine, M. Kathryn
- Keywords
- Cornelia de Lange Syndrome (CdLS), DNA tethering, ESCO2, NIPBL, Roberts Syndrome (RBS), cohesin
- MeSH Terms
-
- Animals
- Cell Cycle Proteins/genetics
- Cell Cycle Proteins/physiology*
- Chromosomal Proteins, Non-Histone/genetics
- Chromosomal Proteins, Non-Histone/physiology*
- Craniofacial Abnormalities
- De Lange Syndrome
- Ectromelia
- Genetic Association Studies
- Humans
- Hypertelorism
- Nervous System Diseases/genetics*
- Nervous System Diseases/pathology
- Transcription, Genetic*
- Zebrafish
- PubMed
- 28422453 Full text @ Dev. Dyn.
Citation
Banerji, R., Skibbens, R.V., Iovine, M.K. (2017) How many roads lead to cohesinopathies?. Developmental Dynamics : an official publication of the American Association of Anatomists. 246(11):881-888.
Abstract
Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include Roberts syndrome (RBS), Cornelia de Lange Syndrome (CdLS), and Warsaw Breakage Syndrome (WABS). The cohesinopathies are characterized by overlapping phenotypes ranging from craniofacial deformities, limb defects, and mental retardation. Though these syndromes share a similar suite of phenotypes and arise due to mutations in a common cohesion pathway, the underlying mechanisms are currently believed to be distinct. Defects in mitotic failure and apoptosis i.e. trans DNA tethering events are believed to be the underlying cause of RBS, whereas the underlying cause of CdLS is largely modeled as occurring through defects in transcriptional processes i.e. cis DNA tethering events. Here, we review recent findings described primarily in zebrafish, paired with additional studies in other model systems, including human patient cells, which challenge the notion that cohesinopathies represent separate syndromes. We highlight numerous studies that illustrate the utility of zebrafish to provide novel insights into the phenotypes, genes affected and the possible mechanisms underlying cohesinopathies. We propose that transcriptional deregulation is the predominant mechanism through which cohesinopathies arise. Developmental Dynamics, 2017. © 2017 Wiley Periodicals, Inc.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping