The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. (Articolo in rivista)

Type
Label
  • The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. (Articolo in rivista) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Alternative label
  • Della Ragione F, Tiunova A, Vacca M, Strazzullo M, Gonzalez E, Armstrong J, Valero R, Campanile C, Pineda M, Hulten M, Monros E, D'Esposito M, Prokhortchouk E. (2006)
    The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.
    in Gene (Amst.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Della Ragione F, Tiunova A, Vacca M, Strazzullo M, Gonzalez E, Armstrong J, Valero R, Campanile C, Pineda M, Hulten M, Monros E, D'Esposito M, Prokhortchouk E. (literal)
Pagina inizio
  • 83 (literal)
Pagina fine
  • 89 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 373 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • aInstitute of Genetics and Biophysics “A. Buzzati Traverso”, CNR, via P. Castellino 111, 80131, Naples, Italy bHospital San Joan de Deu, Av. Sant Joan de Deu no. 2, 08950 Esplugues, Barcelona, Spain cISPAAM, CNR, Via Argine, 1085-80147, Naples, Italy dInstitute of Normal Physiology, Russian Academy of Medical Sciences, Moscow, Russia eDepartment of Biological Sciences, University of Warwick, Coventry CV4 7AL, Warwick, UK fMolecular Biology and Bioinformatics (MOLBINFO) Unit, Department of Biology, University of Padua, viale G. Colombo, 3-35131, Padua, Italy gCenter “Bioengineering”, Russian Academy of Sciences, 60 let Oktyabrya 7-1, 117312 Moscow, Russia (literal)
Titolo
  • The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients. (literal)
Abstract
  • Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the substrate DNA templates. However, around 5–10% of clinically well defined RTT patients do not show any mutations in this gene. Several hypotheses have been postulated to clarify the remaining unexplained RTT cases. We pointed our attention on Kaiso gene. This gene is localized in the Xq23 region and codifies for a protein acting as a methyl-CpG binding protein by using three zinc-finger domains: for this reason it is not strictly related to the MBD family of proteins, even if it may repress transcription of methylated genes as well. To investigate the potential association of Kaiso disfunction with pathogenesis of Rett syndrome, we approached the analysis at two different levels. Primarily, we performed an itemized murine brain expression analysis of Kaiso gene. Expression data and localization made it an excellent candidate as additional causative gene for MECP2 negative, classical RTT patients. On the bases of this data a detailed mutational analysis of 44 patients from Spanish, UK, and Italian archives has been performed to the coding region of Kaiso. No mutation was found while a very frequent polymorphism was identified and characterized. Our study suggests that this gene is not implicated in the RTT molecular pathogenesis, but additional analyses are needed to exclude it as causative gene for X-linked mental retardation disorders. (literal)
Prodotto di
Autore CNR

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it