Characterization and variation of a human inwardly-rectifying K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit

Hiroshi Sakura; Chris Bond; Margaret Warren-Perry; Sharon Horsley; Lyndal Kearney; Stephen Tucker; John Adelman; Robert Turner; Frances M. Ashcroft

doi:10.1016/0014-5793(95)00498-X

Characterization and variation of a human inwardly-rectifying K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit

Hiroshi Sakura, Chris Bond, Margaret Warren-Perry, Sharon Horsley, Lyndal Kearney, Stephen Tucker, John Adelman, Robert Turner, Frances M. Ashcroft

Research output: Contribution to journal › Article › peer-review

47 Scopus citations

Abstract

The ATP-sensitive K-channel plays a central role in insulin release from pancreatic β-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and β-cells, and characterisation of its exon-intron structure. Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CCG-CCA and Asp328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients.

Original language	English (US)
Pages (from-to)	193-197
Number of pages	5
Journal	FEBS Letters
Volume	367
Issue number	2
DOIs	https://doi.org/10.1016/0014-5793(95)00498-X
State	Published - Jun 26 1995
Externally published	Yes

Keywords

ATP-sensitive K-channel
BIR1
Diabetes
KCNJ6
Pancreatic β-cell

ASJC Scopus subject areas

Biophysics
Structural Biology
Biochemistry
Molecular Biology
Genetics
Cell Biology

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10.1016/0014-5793(95)00498-X

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abstract = "The ATP-sensitive K-channel plays a central role in insulin release from pancreatic β-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and β-cells, and characterisation of its exon-intron structure. Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CCG-CCA and Asp328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients.",

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author = "Hiroshi Sakura and Chris Bond and Margaret Warren-Perry and Sharon Horsley and Lyndal Kearney and Stephen Tucker and John Adelman and Robert Turner and Ashcroft, {Frances M.}",

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T2 - a putative ATP-sensitive K-channel subunit

AU - Sakura, Hiroshi

AU - Bond, Chris

AU - Warren-Perry, Margaret

AU - Horsley, Sharon

AU - Kearney, Lyndal

AU - Tucker, Stephen

AU - Adelman, John

AU - Turner, Robert

AU - Ashcroft, Frances M.

PY - 1995/6/26

Y1 - 1995/6/26

N2 - The ATP-sensitive K-channel plays a central role in insulin release from pancreatic β-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and β-cells, and characterisation of its exon-intron structure. Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CCG-CCA and Asp328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients.

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KW - ATP-sensitive K-channel

KW - BIR1

KW - Diabetes

KW - KCNJ6

KW - Pancreatic β-cell

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Characterization and variation of a human inwardly-rectifying K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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