Mutation of the SNF2 family member Chd2 affects mouse development and survival

Concetta G.A. Marfella, Yasuyuki Ohkawa, Andrew H. Coles, David S. Garlick, Stephen N. Jones, Anthony N. Imbalzano

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Abstract

The chromodomain helicase DNA-binding domain (Chd) proteins belong to the SNF2-like family of ATPases that function in chromatin remodeling and assembly. These proteins are characterized by the presence of tandem chromodomains and are further subdivided based on the presence or absence of additional structural motifs. The Chd1-Chd2 subfamily is distinguished by the presence of a DNA-binding domain that recognizes AT-rich sequence. Currently, there are no reports addressing the function of the Chd2 family member. Embryonic stem cells containing a retroviral gene-trap inserted at the Chd2 locus were utilized to generate mice expressing a Chd2 protein lacking the DNA-binding domain. This mutation in Chd2 resulted in a general growth delay in homozygous mutants late in embryogenesis and in perinatal lethality. Animals heterozygous for the mutation showed decreased neonatal viability and increased susceptibility to non-neoplastic lesions affecting most primary organs. In particular, approximately 85% of the heterozygotes showed gross kidney abnormalities. Our results demonstrate that mutation of Chd2 dramatically affects mammalian development and long-term survival.

Original languageEnglish
Pages (from-to)162-171
Number of pages10
JournalJournal of cellular physiology
Volume209
Issue number1
DOIs
Publication statusPublished - Oct 1 2006
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Biochemistry
  • Cell Biology

Cite this

Marfella, C. G. A., Ohkawa, Y., Coles, A. H., Garlick, D. S., Jones, S. N., & Imbalzano, A. N. (2006). Mutation of the SNF2 family member Chd2 affects mouse development and survival. Journal of cellular physiology, 209(1), 162-171. https://doi.org/10.1002/jcp.20718