Oculodentodigital dysplasia (ODDD) causes widespread abnormalities in the teeth, digits and eyes, as well as variable dysfunctional effects in the heart and brain. It is caused by a genetic mutation in connexin43 (Cx43), a gap junction protein widely expressed in the female reproductive system. Since the influence of Cx43 on fertility is unknown, Dan Tong and colleagues examined mice with a dominant loss-of-function mutation in Cx43 and characteristics of human ODDD. Compared with wild-type mice, mutant mice have similar numbers of germ cells but fewer pre-ovulatory follicles and no ovulation response to hormonal stimulation. Mutants also have less mating success and smaller litters. These data demonstrate a role for Cx43 in fertility and prompt further investigation of reproductive issues in ODDD patients.
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IN THIS ISSUE| 25 February 2009
The connexin connection to fertility
Online Issn: 1754-8411
Print Issn: 1754-8403
Dis Model Mech (2009) 2 (3-4): 93.
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The connexin connection to fertility. Dis Model Mech 25 February 2009; 2 (3-4): 93. doi:
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