title: IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.
abstract: We report the identification and characterization of a homologue of the IL1RAPL transcript which is responsible for a form of X-linked mental retardation (MRX34). This new transcript was cloned by analysis of genomic sequences from the Xq22 region and was named IL1RAPL2 (Interleukin 1 Receptor Accessory Protein-Like-2). The two X-linked genes share the same domains, the same exon-intron organization and a high degree of similarity at the protein level (70.4% similarity). RNA in situ expression studies on mouse embryo tissue section at different developmental stages show that Il1rapl2 is specifically expressed in the nervous system from embryonic day 12.5. The homologies together with the pattern of expression render ILRAPL2 a candidate gene for disorders displaying involvement of the CNS, including the MRX loci for which the gene has not been identified yet.
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Milan, Italy.
authors.forename: M I
authors.initials: MI
authors.lastname: Ferrante
authors.forename: M
authors.initials: M
authors.lastname: Ghiani
authors.forename: A
authors.initials: A
authors.lastname: Bulfone
authors.forename: B
authors.initials: B
authors.lastname: Franco
mesh_terms: D000328:Adult; D000818:Animals; D015152:Blotting, Northern; D001921:Brain / Q000378:metabolism; D002490:Central Nervous System / Q000378:metabolism*; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004622:Embryo, Mammalian / Q000378:metabolism; D005786:Gene Expression Regulation; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D017403:In Situ Hybridization; D053577:Interleukin-1 Receptor Accessory Protein; D051379:Mice; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017472:Receptors, Interleukin-1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014960:X Chromosome / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; C407644:IL1RAPL2 protein, human; D053577:Interleukin-1 Receptor Accessory Protein; D012333:RNA, Messenger; D017472:Receptors, Interleukin-1