A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

Citation
M. Meguro et al., A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome, NAT GENET, 28(1), 2001, pp. 19-20
Citations number
15
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
1061-4036 → ACNP
Volume
28
Issue
1
Year of publication
2001
Pages
19 - 20
Database
ISI
SICI code
1061-4036(200105)28:1<19:ANMEGA>2.0.ZU;2-X
Abstract
Lack of a maternal contribution to the genome at the imprinted domain on pr oximal chromosome 15 causes Angelman syndrome (AS) associated with neurobeh avioral anomalies that include severe mental retardation, ataxia and epilep sy(1,2). Although AS patients have infrequent mutations in the gene encodin g an EG-AP ubiquitin ligase required for long-term synaptic potentiation (L TP), most cases are attributed to de novo maternal deletions of 15q11-q13 ( ref. 3). We report here that a novel maternally expressed gene, ATP10C, map s within the most common interval of deletion and that ATP10C expression is virtually absent from AS patients with imprinting mutations, as well as fr om patients with maternal deletions of 15q11-q13.