Journal
DEVELOPMENT
Volume 134, Issue 17, Pages 3191-3201Publisher
COMPANY OF BIOLOGISTS LTD
DOI: 10.1242/dev.005884
Keywords
PDS5; APRIN; sister chromatid cohesion; congenital defects; Cornelia de Lange syndrome; primordial germ cells; mouse
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Funding
- NCI NIH HHS [CA111966] Funding Source: Medline
- NIA NIH HHS [AG13730] Funding Source: Medline
- NICHD NIH HHS [K08 HD047396-02, L40 HD045452-03, HD047396, L40 HD045452, HD001487, K08 HD047396-03, K08 HD047396] Funding Source: Medline
- NIDDK NIH HHS [P30DK079333, DK6459201, DK57038] Funding Source: Medline
- NINDS NIH HHS [NS039358] Funding Source: Medline
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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.
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