Characterization of the human gene coding for the swelling-dependent chloride channel ICln at position 11q13.5–14.1 (CLNS1A) and further characterization of the chromosome 6 (CLNS1B) localization

Nagl, Ulrich O.; Erdel, Martin; Bergmann, Friederike; Oehl, Bernhard; Scandella, Elke; Musante, Luciana; Galietta, Luis J. V.; Gschwentner, Martin; Fürst, Johannes; Schmarda, Andreas; Hofer, Sabine E.; Utermann, Gerd; Deetjen, P.; Paulmichl, Markus

doi:10.1016/s0378-1119(98)00002-x

Cited by 6 publications

(9 citation statements)

References 9 publications

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“…The 3Ј-end of this clone was sequenced and corresponded to the 5Ј-end of the human ICln ORF (7,8). Using fluorescence in situ hybridization, we located the P1R3 clone at the human chromosomal position 11q13.5-14.1, as expected.…”

Section: Resultssupporting

confidence: 60%

“…The 3Ј-end of this clone was sequenced and corresponded to the 5Ј-end of the human CLNS1A gene (7,8). The P1R3 clone was digested with KpnI and SacI.…”

Section: Cloning Of the Icln Promoter Regionmentioning

confidence: 99%

“…Using fluorescence in situ hybridization, we identified two different human gene loci that carry the coding region for ICln. One locus at position 6p12, termed CLNS1B, contains an intronless gene (7), whereas the second gene locus at position 11q13.5-14.1, termed CLNS1A, is segmented by introns. The exon sequences of CLNS1A are identical with the cloned human cDNA, suggesting transcription of this gene (8).…”

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confidence: 99%

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The Promoter for Constitutive Expression of the Human ICln Gene CLNS1A

Scandella¹,

Nagl²,

Oehl³

et al. 2000

Journal of Biological Chemistry

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The ICln protein is expressed ubiquitously in mammals. Experiments designed to knock down the ICln protein in NIH 3T3 fibroblasts as well as in epithelial cells led to the conclusion that this protein is crucially involved in volume regulation after cytoplasmic swelling. Reconstitution of the ICln protein in lipid bilayers revealed the ion channel nature of ICln. Here we describe a new human promoter sequence, composed of 89 nucleotides, which is responsible for a highly constitutive expression of the ICln protein. The promoter sequence lacks a TATA box, and the transcription can be effected at multiple sites. In addition to the starting sites, upstream sequence elements are mandatory for an efficient transcription of the ICln gene (CLNS1A). These new nucleotide elements were defined by site-directed mutagenesis.

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Section: Resultssupporting

confidence: 60%

“…The 3Ј-end of this clone was sequenced and corresponded to the 5Ј-end of the human CLNS1A gene (7,8). The P1R3 clone was digested with KpnI and SacI.…”

Section: Cloning Of the Icln Promoter Regionmentioning

confidence: 99%

mentioning

confidence: 99%

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The Promoter for Constitutive Expression of the Human ICln Gene CLNS1A

Scandella¹,

Nagl²,

Oehl³

et al. 2000

Journal of Biological Chemistry

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“…The screening of human genomic DNA libraries made it possible to determine the exact sequence of both genes. These experiments revealed that the gene on chromosome 6 (position p12, Nagl et al 1998) was most probably a pseudogene, since the nucleotide sequence was not identical to the cDNA sequences identified for human ICln. This gene was termed CLNS1B.…”

Section: Introductionmentioning

confidence: 89%

“…One of the two human genes was therefore named CLNS1A, and this gene is localized on chromosome 11 and encodes ICln . The intronless ICln gene, CLNS1B, which is localized on chromosome 6 is most probably a pseudogene (http: ÏÏwww.gene.ucl.ac.ukÏnomenclatureÏ;Nagl et al 1998). the human and mouse genes encoding ic ln Fluorescence in situ hybridization (FISH) experiments revealed that parts of the human ICln sequence are present on chromosomes 11 and 6.…”

Section: Introductionmentioning

confidence: 99%

Icln, An Ion Channel‐Forming Protein Associated with Cell Volume Regulation

Gschwentner

Fürst

Ritter

et al. 1999

Experimental Physiology

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It is not resolved whether the anionic channel involved in volume regulation after cell swelling comprises one or more subunits. Moreover, it remains to be determined which of the different proteins cloned so far, for which an involvement in cell volume regulation has been postulated, is the ideal candidate. In this review, we consider the role of the ICln protein, cloned from MDCK cells, in cell volume regulation.

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Juvenile myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families

et al. 2002

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Juvenile myoclonic epilepsy is a common subtype of idiopathic epilepsy accounting for 4-11% of all epilepsies. We reported previously significant evidence of linkage between chromosome 6p12-11 microsatellites and the clinical epilepsy and EEG traits of JME families from Belize and Los Angeles. To narrow the JME region, we ascertained and genotyped 31 new JME families from Mexico using a later generation of Généthon microsatellites. Two point linkage analyses obtained significant Z(max) values of 3.70 for D6S1573 and 2.65 for D6S1714 at theta(m = f) = 0.10, and 3.49 for D6S465, 2.11 for D6S1960 at theta(m = f) = 0.05 assuming autosomal dominant inheritance with 70% age-dependent penetrance. Multipoint LOD score curve peaked at 4.21 for D6S1573. Haplotype and recombination analysis reduced the JME region to 3.5 cM flanked by D6S272 and D6S1573. These results provide confirmatory evidence that a major susceptibility gene for JME exists in chromosome 6p12 in Spanish-Amerinds of Mexico.

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Characterization of the human gene coding for the swelling-dependent chloride channel ICln at position 11q13.5–14.1 (CLNS1A) and further characterization of the chromosome 6 (CLNS1B) localization

Cited by 6 publications

References 9 publications

The Promoter for Constitutive Expression of the Human ICln Gene CLNS1A

The Promoter for Constitutive Expression of the Human ICln Gene CLNS1A

Icln, An Ion Channel‐Forming Protein Associated with Cell Volume Regulation

Juvenile myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families

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