title: A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
abstract: In the framework of constructing a comprehensive transcript map of the human Xp22.3 region, we identified an evolutionary conserved CpG island and cloned the corresponding gene. The predicted 760 amino acid protein encoded by this gene contains 12 hydrophobic domains and shares significant sequence and structural similarities with all the previously isolated members of a recently identified family of voltage-gated chloride channels (the 'CIC family'). This gene, termed CICN4 (Chloride Channel 4), contains at least 10 exons spanning 60 to 80 kb on the X chromosome. In contrast to most genes isolated from the human Xp22.3 region, the CICN4 gene does not share homology with the Y chromosome and it is conserved in mouse and hamster. Expression studies revealed the presence of a 7.5 kb transcript which is particularly abundant in skeletal muscle and is also detectable in brain and heart. These data suggest that we have identified a new voltage-gated chloride channel which is encoded by a gene located in the distal short arm of the X chromosome.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: M A
authors.initials: MA
authors.lastname: van Slegtenhorst
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: G
authors.initials: G
authors.lastname: Borsani
authors.forename: M C
authors.initials: MC
authors.lastname: Wapenaar
authors.forename: G B
authors.initials: GB
authors.lastname: Ferrero
authors.forename: L
authors.initials: L
authors.lastname: de Conciliis
authors.forename: E I
authors.initials: EI
authors.lastname: Rugarli
authors.forename: A
authors.initials: A
authors.lastname: Grillo
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: H Y
authors.initials: HY
authors.lastname: Zoghbi
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001923:Brain Chemistry; D018118:Chloride Channels / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D009124:Muscle Proteins / Q000096:biosynthesis / Q000235:genetics; D009206:Myocardium / Q000737:chemistry; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics; D009928:Organ Specificity; D051381:Rats / Q000235:genetics; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D014101:Torpedo / Q000235:genetics; D014960:X Chromosome
chemical_list: D018118:Chloride Channels; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins