Identification of CANT1 Mutations in Desbuquois Dysplasia

dc.creatorHuber, C
dc.creatorOules, B
dc.creatorBertoli, M
dc.creatorChami, M
dc.creatorFradin, M
dc.creatorAlanay, Y
dc.creatorAl-Gazali, LI
dc.creatorAusems, MGEM
dc.creatorBitoun, P
dc.creatorCavalcanti, DP
dc.creatorKrebs, A
dc.creatorLe Merrer, M
dc.creatorMortier, G
dc.creatorShafeghati, Y
dc.creatorSuperti-Furga, A
dc.creatorRobertson, SP
dc.creatorLe Goff, C
dc.creatorMuda, AO
dc.creatorPaterlini-Brechot, P
dc.creatorMunnich, A
dc.creatorCormier-Daire, V
dc.date2009
dc.date41579
dc.date2014-11-14T21:30:38Z
dc.date2015-11-26T16:08:29Z
dc.date2014-11-14T21:30:38Z
dc.date2015-11-26T16:08:29Z
dc.date.accessioned2018-03-28T22:57:03Z
dc.date.available2018-03-28T22:57:03Z
dc.identifierAmerican Journal Of Human Genetics. Cell Press, v. 85, n. 5, n. 706, n. 710, 2009.
dc.identifier0002-9297
dc.identifierWOS:000271916500017
dc.identifier10.1016/j.ajhg.2009.10.001
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/69137
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/69137
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/69137
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1266373
dc.descriptionDesbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5' UTR and exon 1, p.P24SRfsX3, p.S303AfsX20, and p.W125X), and three were missense mutations (p.R300C, p.R300H, and p.P299L) responsible for the change of conserved amino acids located in the seventh nucleotidase conserved region (NRC). The arginine substitution at position 300 was identified in five out of nine families. The specific function of CANT1 is as yet unknown, but its substrates are involved in several major signaling functions, including Ca(2+) release, through activation of pyrimidinergic signaling. Importantly, using RT-PCR analysis, we observed a specific expression in chondrocytes. We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process.
dc.description85
dc.description5
dc.description706
dc.description710
dc.descriptionMD-PhD program of the Fondation pour la Recherche Medicale (FRM)
dc.descriptionINSERM young researcher
dc.descriptionMD-PhD program of the Ecole de I'INSERM Liliane Bettencourt
dc.languageen
dc.publisherCell Press
dc.publisherCambridge
dc.publisherEUA
dc.relationAmerican Journal Of Human Genetics
dc.relationAm. J. Hum. Genet.
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectNucleotidase
dc.subjectExpression
dc.titleIdentification of CANT1 Mutations in Desbuquois Dysplasia
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución