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Western University

Medical Physiology

2009

Oculodentodigital dysplasia

Articles 1 - 1 of 1

Full-Text Articles in Medicine and Health Sciences

A Dominant Loss-Of-Function Gja1 (Cx43) Mutant Impairs Parturition In The Mouse, Dan Tong, Xuerong Lu, Hong-Xing Wang, Isabelle Plante, Ed Lui, Dale W. Laird, Donglin Bai, Gerald M. Kidder Jun 2009

A Dominant Loss-Of-Function Gja1 (Cx43) Mutant Impairs Parturition In The Mouse, Dan Tong, Xuerong Lu, Hong-Xing Wang, Isabelle Plante, Ed Lui, Dale W. Laird, Donglin Bai, Gerald M. Kidder

Physiology and Pharmacology Publications

Expression of GJA1 (commonly known as connexin43 or Cx43), a major myometrial gap junction protein, is upregulated before the onset of delivery, suggesting an essential role for Cx43-mediated gap junctional intercellular communication (GJIC) in normal uterine contraction during parturition. To determine how a disease-linked Cx43 mutation affects myometrial function, we studied a mutant mouse model carrying an autosomal dominant mutation (Gja1Jrt) in the gene encoding Cx43 that displays features of the human genetic disease oculodentodigital dysplasia. We found that Cx43 level, specifically the phosphorylated species of the protein, is significantly reduced in the myometrium of the mutant mice (Gja1Jrt/+), as …