Hydrocephalus and abnormal subcommissural organ in mice lacking presenilin-1 in Wnt1 cell lineages.
Presenilin-1 (PS1) is a transmembrane protein that is in many cases responsible for the development of familial Alzheimer's disease. PS1 is widely expressed in embryogenesis and is essential for neurogenesis, somitogenesis, angiogenesis, and cardiac morphogenesis. To further investigate the role of PS1 in the brain, we inactivated the PS1 gene in Wnt1 cell lineages using the Cre-loxP recombination system. Here we show that conditional inactivation of PS1 in Wnt1 cell lineages results in congenital hydrocephalus and subcommissural organ abnormalities, suggesting a possible role of PS1 in the regulation of cerebrospinal fluid homeostasis.
Department of Pharmaceutical Pharmacology, School of Clinical Pharmacy, College of Pharmaceutical Sciences, Matsuyama University, 4-2 Bunkyo-cho, Matsuyama 790-8578, Ehime, Japan. mnakajim@cc.matsuyama-u.ac.jp
Mitsunari
M
Nakajima
Keiko
K
Matsuda
Naho
N
Miyauchi
Yasuyoshi
Y
Fukunaga
Sono
S
Watanabe
Satoshi
S
Okuyama
Juan
J
Pérez
Pedro
P
Fernández-Llebrez
Jie
J
Shen
Yoshiko
Y
Furukawa
D000818:Animals; D019070:Cell Lineage / Q000235:genetics; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D002555:Cerebrospinal Fluid / Q000502:physiology; D015170:Cerebrospinal Fluid Pressure / Q000502:physiology; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006706:Homeostasis / Q000235:genetics; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D009421:Nervous System Malformations / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D053764:Presenilin-1 / Q000037:antagonists & inhibitors / Q000172:deficiency / Q000235:genetics*; D013351:Subcommissural Organ / Q000002:abnormalities* / Q000503:physiopathology; D051155:Wnt1 Protein / Q000235:genetics*
D053764:Presenilin-1; D051155:Wnt1 Protein; C495246:Wnt1 protein, mouse
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