Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome.
The murine Cdcrel-1 (Pnutl1) gene belongs to the family of septins, which are thought to be involved in cytokinesis in yeast, Drosophila and vertebrates. Recent studies implicate Cdcrel-1 in the regulation of vesicle transport in neurons of the adult brain. The human homologue, hCDCREL-1 maps to chromosome 22q11.2, a region commonly deleted in patients displaying velo-cardio-facial syndrome (VCFS) or DiGeorge syndrome (DGS). During development, Cdcrel-1 transcripts are expressed from E10.5 on in the nervous system such as the dorsal root ganglia and the cranial ganglia as well as the lateral layer of the neural tube, the area where terminally differentiated neurons are located. Low level expression is found in the mesenchyme of the frontonasal mass and the limb bud mesenchyme of E11.5 and E13.5 murine embryos. At E15.5, expression is detected in the nervous tissue and in the neural layer of the eye. Based on the expression pattern as well as clinical data, Cdcrel-1 may be involved in the etiology of VCFS/DGS.
Maldonado-Saldivia
J
J
Forschungszentrum Karlsruhe, Institute for Toxicology and Genetics, Hermann von Helmholtz Platz 1, 76344, Eggenstein-Leopoldshafen, Germany.
Funke
B
B
Pandita
R K
RK
Schüler
T
T
Morrow
B E
BE
Schorle
H
H
D000818:Animals; D001921:Brain / Q000196:embryology / Q000378:metabolism; D018797:Cell Cycle Proteins / Q000096:biosynthesis* / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000378:metabolism*; D005123:Eye / Q000378:metabolism; D005727:Ganglia, Spinal / Q000378:metabolism; D006801:Humans; D017403:In Situ Hybridization; D018878:Limb Buds / Q000378:metabolism; D051379:Mice; D009474:Neurons / Q000378:metabolism; D058112:Septins; D013997:Time Factors
D018797:Cell Cycle Proteins; C109366:SEPTIN5 protein, human; C491612:Sept5 protein, mouse; D058112:Septins