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First published online 25 July 2007
doi: 10.1242/dev.005884

Development 134, 3191-3201 (2007)
Published by The Company of Biologists 2007
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Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome

Bin Zhang1,2, Sanjay Jain3, Haengseok Song2, Ming Fu4,5, Robert O. Heuckeroth4,5, Jonathan M. Erlich5, Patrick Y. Jay1,5 and Jeffrey Milbrandt2,6,*

1 Departments of Genetics, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
2 Departments of Pathology and Immunology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
3 Departments of Medicine and Renal division, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
4 Departments of Molecular Biology and Pharmacology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
5 Departments of Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.
6 Departments of HOPE Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA.

* Author for correspondence (e-mail: jmilbrandt{at}wustl.edu)

Accepted 22 June 2007

PDS5B is a sister chromatid cohesion protein that is crucial for faithful segregation of duplicated chromosomes in lower organisms. Mutations in cohesion proteins are associated with the developmental disorder Cornelia de Lange syndrome (CdLS) in humans. To delineate the physiological roles of PDS5B in mammals, we generated mice lacking PDS5B (APRIN). Pds5B-deficient mice died shortly after birth. They exhibited multiple congenital anomalies, including heart defects, cleft palate, fusion of the ribs, short limbs, distal colon aganglionosis, abnormal migration and axonal projections of sympathetic neurons, and germ cell depletion, many of which are similar to abnormalities found in humans with CdLS. Unexpectedly, we found no cohesion defects in Pds5B-/- cells and detected high PDS5B expression in post-mitotic neurons in the brain. These results, along with the developmental anomalies of Pds5B-/- mice, the presence of a DNA-binding domain in PDS5B in vertebrates and its nucleolar localization, suggest that PDS5B and the cohesin complex have important functions beyond their role in chromosomal dynamics.

Key words: PDS5, APRIN, Sister chromatid cohesion, Congenital defects, Cornelia de Lange syndrome, Primordial germ cells, Mouse


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[Abstract] [Full Text] [PDF]


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