title: KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
abstract: We describe the identification and characterization of a new gene deleted in the AMME contiguous gene syndrome. This gene is predominantly expressed in heart, skeletal muscle, spinal cord, and brain. Screening of placenta and NT2 cDNA libraries enabled us to obtain the 1.5-kb full-length transcript, which shows a 426-bp open reading frame. Since the resulting 142-amino-acid peptide has a single putative transmembrane domain and a weak but suggestive homology with KCNE1 (minK), a protein associated with the KCNQ1 potassium channel (KVLQT1), we named this new gene KCNE1-like (KCNE1L). To obtain greater insight into this new member of an apparently distinct protein family, we have identified and characterized the homologous mouse gene (Kcne1l), which encodes a peptide of 143 amino acids with 91% homology and 80% identity. The expression pattern of mouse Kcne1l in the developing embryo revealed strong signal in ganglia, in the migrating neural crest cells of cranial nerves, in the somites, and in the myoepicardial layer of the heart. The specific distribution in adult tissues, the putative channel function, and the expression pp6tern in the developing mouse embryo suggest that KCNE1L could be involved in the development of the cardiac abnormalities as well as of some neurological signs observed in patients with AMME contiguous gene syndrome.
authors.affiliation: Genetica Medica, Policlinico Le Scotte, Siena, 53100, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Piccini
authors.forename: F
authors.initials: F
authors.lastname: Vitelli
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: L J
authors.initials: LJ
authors.lastname: Galietta
authors.forename: O
authors.initials: O
authors.lastname: Moran
authors.forename: A
authors.initials: A
authors.lastname: Bulfone
authors.forename: S
authors.initials: S
authors.lastname: Banfi
authors.forename: B
authors.initials: B
authors.lastname: Pober
authors.forename: A
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002999:Clone Cells; D016208:Databases, Factual; D004553:Electric Conductivity; D004562:Electrocardiography; D017353:Gene Deletion; D015870:Gene Expression; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C059983:potassium channel protein I(sk)