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Neural Crest Cell-Specific Inactivation of Nipbl or Mau2 During Mouse Development Results in a Late Onset of Craniofacial Defects

Lookup NU author(s): Dr Terence Smith, Dr Steven Laval, Fangli Chen, Dr Matthew Rock, Emeritus Professor Tom Strachan, Dr Heiko Peters


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Nipbl (Scc2) and Mau2 (Scc4) encode evolutionary conserved proteins that play a vital role for loading the cohesin complex onto chromosomes, thereby ensuring accurate chromosome segregation during cell division. While mutations in human NIPBL are known to cause the developmental disorder Cornelia de Lange syndrome, the functions of Nipbl and Mau2 in mammalian development are poorly defined. Here we generated conditional alleles for both genes in mice and show that neural crest cell-specific inactivation of Nipbl or Mau2 strongly affects craniofacial development. Surprisingly, the early phase of neural crest cell proliferation and migration is only moderately affected in these mutants. Moreover, we found that Mau2 single homozygous mutants exhibited a more severe craniofacial phenotype when compared to that of Nipbl; Mau2 double homozygous mutants. This raises the possibility that the Mau2/Nipbl protein interaction is not only required for cohesin loading, but may also be required to restrict the level of Nipbl involved in regulating gene expression. Together, the data suggest that proliferating neural crest cells tolerate a substantial reduction of cohesin loading proteins and we propose that the successive decrease of cohesin loading proteins in neural crest cells may alter developmental gene regulation in a highly dynamic manner. (C) 2014 Wiley Periodicals, Inc.

Publication metadata

Author(s): Smith TG, Laval S, Chen FL, Rock MJ, Strachan T, Peters H

Publication type: Article

Publication status: Published

Journal: genesis

Year: 2014

Volume: 52

Issue: 7

Pages: 687-694

Print publication date: 01/07/2014

Online publication date: 21/04/2014

Acceptance date: 02/04/2014

ISSN (print): 1526-954X

ISSN (electronic): 1526-968X

Publisher: Wiley-Blackwell


DOI: 10.1002/dvg.22780


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Funder referenceFunder name
076289Wellcome Trust
082211Wellcome Trust