title: Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3.
abstract: Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental retardation loci). Genes involved in the phenotypes have been isolated for only two of them (Menkes and SCIDX). It was therefore interesting to isolate and characterize new genes from the region. In a previous work (12 and Consalez et al, in preparation) we isolated a gene (XNP), located 350 Kb proximal to PGK1, potentially coding for a nuclear protein. We describe here the cloning and characterization of the murine homologue. The pattern of expression of the gene in the newborn mouse (especially the expression in particular regions of the brain: optical lobe, frontal cortex, hippocampus and cerebellum), as well as the expression in human tissues, suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region, X-linked mental retardation would be the best candidate to be associated with this gene.
authors.affiliation: INSERM U242, Marseille, France.
authors.forename: J
authors.initials: J
authors.lastname: Gecz
authors.forename: H
authors.initials: H
authors.lastname: Pollard
authors.forename: G
authors.initials: G
authors.lastname: Consalez
authors.forename: L
authors.initials: L
authors.lastname: Villard
authors.forename: C
authors.initials: C
authors.lastname: Stayton
authors.forename: P
authors.initials: P
authors.lastname: Millasseau
authors.forename: M
authors.initials: M
authors.lastname: Khrestchatisky
authors.forename: M
authors.initials: M
authors.lastname: Fontes
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000831:Animals, Newborn; D001483:Base Sequence; D001921:Brain / Q000254:growth & development / Q000378:metabolism*; D002454:Cell Differentiation; D003001:Cloning, Molecular; D004265:DNA Helicases; D017931:DNA Primers; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D017403:In Situ Hybridization; D008607:Intellectual Disability / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009474:Neurons / Q000166:cytology / Q000378:metabolism*; D009687:Nuclear Proteins / Q000096:biosynthesis / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic; D014960:X Chromosome; D000075924:X-linked Nuclear Protein
chemical_list: D017931:DNA Primers; D009687:Nuclear Proteins; D012333:RNA, Messenger; D010735:Phosphoglycerate Kinase; D004265:DNA Helicases; C092332:ATRX protein, human; C490462:Atrx protein, mouse; D000075924:X-linked Nuclear Protein