Identification of a Putative Regulatory Subunit of a Calcium-Activated Potassium Channel in the dup(3q) Syndrome Region and a Related Sequence on 22q11.2

Riazi, Mohammad; Brinkman-Mills, Polly; Johnson, Angela; Naylor, Susan L.; Minoshima, Shinsei; Shimizu, Nobuyoshi; Baldini, Antonio; McDermid, Heather E.

doi:10.1006/geno.1999.5975

Cited by 31 publications

(33 citation statements)

References 16 publications

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“…The ␤3 subunit (Fig. 1a) differs from the previously reported ␤3 protein (28) at the N terminus. Its functional analysis (Ca 2ϩ ͞V and IbTx͞CTx sensitivities) did not yield any distinct phenotype when compared to the ␣ subunit alone.…”

Section: Resultscontrasting

confidence: 68%

“…ref. 28) subunit are virtually absent or scarce in adult brain (9). Thus, the ␤4 subunit seems to be the predominant ␤ subunit in the brain.…”

Section: Resultsmentioning

confidence: 92%

“…Screening public data bases reveals at least four human ␤ subunit genes: (i) the smooth muscle ␤1 subunit (KCNMB1); (ii) the inactivating ␤2 subunit (KCNMB2), (iii) a ␤3 subunit (KCNMB3; Fig. 1) that is duplicated in the dup(3q) Syndrome region (28), and (iv) the neuronal ␤4 subunit characterized here (KCNMB4) (Fig. 1).…”

Section: Resultsmentioning

confidence: 99%

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A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca ²⁺ -activated K ⁺ channel resistant to charybdotoxin and iberiotoxin

Meera

Wallner²,

Toro³

2000

Proc. Natl. Acad. Sci. U.S.A.

356

378

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Section: Resultscontrasting

confidence: 68%

“…ref. 28) subunit are virtually absent or scarce in adult brain (9). Thus, the ␤4 subunit seems to be the predominant ␤ subunit in the brain.…”

Section: Resultsmentioning

confidence: 92%

See 1 more Smart Citation

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca ²⁺ -activated K ⁺ channel resistant to charybdotoxin and iberiotoxin

Meera

Wallner²,

Toro³

2000

Proc. Natl. Acad. Sci. U.S.A.

356

378

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“…The second ␤3a-d, consists of four related proteins, which arise by alternative splicing of a distinct gene. The sequence of one (␤3c) of these four splice variants was also recently reported (35). Although similar in general structure to the known ␤1 subunit, each of these novel ␤-subunits exhibits properties that distinguish it from the others.…”

Section: Discussionmentioning

confidence: 76%

Cloning and Functional Expression of Two Families of β-Subunits of the Large Conductance Calcium-activated K+ Channel

Uebele

Lagrutta

Wade

et al. 2000

Journal of Biological Chemistry

230

248

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We report here a characterization of two families of calcium-activated K ؉ channel ␤-subunits, ␤2 and ␤3, which are encoded by distinct genes that map to 3q26.2-27. A single ␤2 family member and four alternatively spliced variants of ␤3 were investigated. These subunits have predicted molecular masses of 27.1-31.6 kDa, share ϳ30 -44% amino acid identity with ␤1, and exhibit distinct but overlapping expression patterns. Coexpression of the ␤2 or ␤3a-c subunits with a BK ␣-subunit altered the functional properties of the current expressed by the ␣-subunit alone. The ␤2 subunit rapidly and completely inactivated the current and shifted the voltage dependence for activation to more polarized membrane potentials. In contrast, coexpression of the ␤3a-c subunits resulted in only partial inactivation of the current, and the ␤3b subunit conferred an apparent inward rectification. Furthermore, unlike the ␤1 and ␤2 subunits, none of the ␤3 subunits increased channel sensitivity to calcium or voltage. The tissue-specific expression of these ␤-subunits may allow for the assembly of a large number of distinct BK channels in vivo, contributing to the functional diversity of native BK currents.

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“…An important example was the gene for Duchenne muscular dystrophy, which was discovered through study of a patient with concomitant muscular dystrophy, McLeod syndrome, and chronic granulomatous disease due to an X chromosome deletion that had removed a set of contiguous genes (2). Riazi et al (3) followed a case of duplication involving a region in chromosome 3 to identify a candidate epilepsy gene located within bands 3q26.3-q27, the gene KNMB3. However, despite the increasing interest in the genetics of epilepsy, little attention has been paid to cytogenetics as a resource to identify putative epilepsy genes.…”

mentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Identification of a Putative Regulatory Subunit of a Calcium-Activated Potassium Channel in the dup(3q) Syndrome Region and a Related Sequence on 22q11.2

Cited by 31 publications

References 16 publications

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca ²⁺ -activated K ⁺ channel resistant to charybdotoxin and iberiotoxin

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca ²⁺ -activated K ⁺ channel resistant to charybdotoxin and iberiotoxin

Cloning and Functional Expression of Two Families of β-Subunits of the Large Conductance Calcium-activated K+ Channel

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

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Identification of a Putative Regulatory Subunit of a Calcium-Activated Potassium Channel in the dup(3q) Syndrome Region and a Related Sequence on 22q11.2

Cited by 31 publications

References 16 publications

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca 2+ -activated K + channel resistant to charybdotoxin and iberiotoxin

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca 2+ -activated K + channel resistant to charybdotoxin and iberiotoxin

Cloning and Functional Expression of Two Families of β-Subunits of the Large Conductance Calcium-activated K+ Channel

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Contact Info

Product

Resources

About

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca ²⁺ -activated K ⁺ channel resistant to charybdotoxin and iberiotoxin

A neuronal β subunit (KCNMB4) makes the large conductance, voltage- and Ca ²⁺ -activated K ⁺ channel resistant to charybdotoxin and iberiotoxin