A gene for central respiratory regulation
Down syndrome cell adhesion molecule (DSCAM) is expressed in neuronal tissues and reportedly has diverse roles in neural development. To elucidate its physiological function in vivo, a targeted disruption of Dscam in mice was generated. Homozygous null mutants (Dscam(-/-)) were found to be lethal within 24 h of birth. Dscam(-/-) mice also had an irregular respiratory rhythm with frequent apneas. Detailed measurement of respiration in vivo and in vitro was performed to determine whether there was irregular respiration and a lower ventilatory response to hypercapnia in the null mutants. Heterozygous Dscam(+/-) mice, which survive to adulthood without significant abnormalities, also showed irregular respiration, but it was milder than that observed in the homozygous deficient mice. These mice are useful to study the physiological role of DSCAM in vivo and to understand the molecular mechanism of central respiratory regulation.
|Depositor||:||Dr. Kazuhiro Yamakawa, RIKEN Brain Science Institute|
|Reference||:||Amano K, Fujii M, Arata S, Tojima T, Ogawa M, Morita N, Shimohata A,Furuichi T, Itohara S, Kamiguchi H, Korenberg JR, Arata A, Yamakawa K.
DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death.
J Neurosci.; 29(9):2984-96, 2009.