Title |
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
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Published in |
Molecular Cytogenetics, September 2014
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DOI | 10.1186/s13039-014-0059-6 |
Pubmed ID | |
Authors |
Celine Dupont, Martine Bucourt, Fabien Guimiot, Lilia Kraoua, Daniel Smiljkovski, Dominique Le Tessier, Camille Lebugle, Benedicte Gerard, Emmanuel Spaggiari, Pierre Bourdoncle, Anne-Claude Tabet, Brigitte Benzacken, Jean-Michel Dupont |
Abstract |
Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appearance of chromatids and premature centromere separation in metaphase spreads. Mutations in the ESCO2 (establishment of cohesion 1 homolog 2) gene located in 8p21.1 have been found in several families. ESCO2, a member of the cohesion establishing complex, has a role in the effective cohesion between sister chromatids. In order to analyze sister chromatids topography during interphase, we performed 3D-FISH using pericentromeric heterochromatin probes of chromosomes 1, 4, 9 and 16, on preserved nuclei from a fetus with RBS carrying compound heterozygous null mutations in the ESCO2 gene. |
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