A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation

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A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. / Xia, Min; Jin, Qingfeng; Bendahhou, Saïd; He, Yusong; Larroque, Marie-Madeleine; Chen, Yiping; Zhou, Qinshu; Yang, Yiqing; Liu, Yi; Liu, Ban; Zhu, Qian; Zhou, Yanting; Lin, Jie; Liang, Bo; Li, Li; Dong, Xiongjian; Pan, Zhiwen; Wang, Rongrong; Wan, Haiying; Qiu, Weiqin; Xu, Wenyuan; Eurlings, Petra; Barhanin, Jacques; Chen, Yihan.

I: Biochemical and Biophysical Research Communications, Bind 332, Nr. 4, 2005, s. 1012-9.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Xia, M, Jin, Q, Bendahhou, S, He, Y, Larroque, M-M, Chen, Y, Zhou, Q, Yang, Y, Liu, Y, Liu, B, Zhu, Q, Zhou, Y, Lin, J, Liang, B, Li, L, Dong, X, Pan, Z, Wang, R, Wan, H, Qiu, W, Xu, W, Eurlings, P, Barhanin, J & Chen, Y 2005, 'A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation', Biochemical and Biophysical Research Communications, bind 332, nr. 4, s. 1012-9. https://doi.org/10.1016/j.bbrc.2005.05.054

APA

Xia, M., Jin, Q., Bendahhou, S., He, Y., Larroque, M-M., Chen, Y., Zhou, Q., Yang, Y., Liu, Y., Liu, B., Zhu, Q., Zhou, Y., Lin, J., Liang, B., Li, L., Dong, X., Pan, Z., Wang, R., Wan, H., ... Chen, Y. (2005). A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochemical and Biophysical Research Communications, 332(4), 1012-9. https://doi.org/10.1016/j.bbrc.2005.05.054

Vancouver

Xia M, Jin Q, Bendahhou S, He Y, Larroque M-M, Chen Y o.a. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochemical and Biophysical Research Communications. 2005;332(4):1012-9. https://doi.org/10.1016/j.bbrc.2005.05.054

Author

Xia, Min ; Jin, Qingfeng ; Bendahhou, Saïd ; He, Yusong ; Larroque, Marie-Madeleine ; Chen, Yiping ; Zhou, Qinshu ; Yang, Yiqing ; Liu, Yi ; Liu, Ban ; Zhu, Qian ; Zhou, Yanting ; Lin, Jie ; Liang, Bo ; Li, Li ; Dong, Xiongjian ; Pan, Zhiwen ; Wang, Rongrong ; Wan, Haiying ; Qiu, Weiqin ; Xu, Wenyuan ; Eurlings, Petra ; Barhanin, Jacques ; Chen, Yihan. / A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. I: Biochemical and Biophysical Research Communications. 2005 ; Bind 332, Nr. 4. s. 1012-9.

Bibtex

@article{2d0f0df4836f4272a2d1c923af83eda6,
title = "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation",
abstract = "The inward rectifier K(+) channel Kir2.1 mediates the potassium I(K1) current in the heart. It is encoded by KCNJ2 gene that has been linked to Andersen's syndrome. Recently, strong evidences showed that Kir2.1 channels were associated with mouse atrial fibrillation (AF), therefore we hypothesized that KCNJ2 was associated with familial AF. Thirty Chinese AF kindreds were evaluated for mutations in KCNJ2 gene. A valine-to-isoleucine mutation at position 93 (V93I) of Kir2.1 was found in all affected members in one kindred. This valine and its flanking sequence is highly conserved in Kir2.1 proteins among different species. Functional analysis of the V93I mutant demonstrated a gain-of-function consequence on the Kir2.1 current. This effect is opposed to the loss-of-function effect of previously reported mutations in Andersen's syndrome. Kir2.1 V93I mutation may play a role in initiating and/or maintaining AF by increasing the activity of the inward rectifier K(+) channel.",
keywords = "Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Animals, Atrial Fibrillation, COS Cells, Cell Line, Conserved Sequence, DNA, DNA Mutational Analysis, Electrophysiology, Family Health, Female, Heart Atria, Humans, Isoleucine, Male, Microscopy, Confocal, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutagenesis, Site-Directed, Mutation, Potassium Channels, Inwardly Rectifying, Protein Conformation, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Transfection, Valine",
author = "Min Xia and Qingfeng Jin and Sa{\"i}d Bendahhou and Yusong He and Marie-Madeleine Larroque and Yiping Chen and Qinshu Zhou and Yiqing Yang and Yi Liu and Ban Liu and Qian Zhu and Yanting Zhou and Jie Lin and Bo Liang and Li Li and Xiongjian Dong and Zhiwen Pan and Rongrong Wang and Haiying Wan and Weiqin Qiu and Wenyuan Xu and Petra Eurlings and Jacques Barhanin and Yihan Chen",
year = "2005",
doi = "10.1016/j.bbrc.2005.05.054",
language = "English",
volume = "332",
pages = "1012--9",
journal = "Biochemical and Biophysical Research Communications",
issn = "0006-291X",
publisher = "Elsevier",
number = "4",

}

RIS

TY - JOUR

T1 - A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation

AU - Xia, Min

AU - Jin, Qingfeng

AU - Bendahhou, Saïd

AU - He, Yusong

AU - Larroque, Marie-Madeleine

AU - Chen, Yiping

AU - Zhou, Qinshu

AU - Yang, Yiqing

AU - Liu, Yi

AU - Liu, Ban

AU - Zhu, Qian

AU - Zhou, Yanting

AU - Lin, Jie

AU - Liang, Bo

AU - Li, Li

AU - Dong, Xiongjian

AU - Pan, Zhiwen

AU - Wang, Rongrong

AU - Wan, Haiying

AU - Qiu, Weiqin

AU - Xu, Wenyuan

AU - Eurlings, Petra

AU - Barhanin, Jacques

AU - Chen, Yihan

PY - 2005

Y1 - 2005

N2 - The inward rectifier K(+) channel Kir2.1 mediates the potassium I(K1) current in the heart. It is encoded by KCNJ2 gene that has been linked to Andersen's syndrome. Recently, strong evidences showed that Kir2.1 channels were associated with mouse atrial fibrillation (AF), therefore we hypothesized that KCNJ2 was associated with familial AF. Thirty Chinese AF kindreds were evaluated for mutations in KCNJ2 gene. A valine-to-isoleucine mutation at position 93 (V93I) of Kir2.1 was found in all affected members in one kindred. This valine and its flanking sequence is highly conserved in Kir2.1 proteins among different species. Functional analysis of the V93I mutant demonstrated a gain-of-function consequence on the Kir2.1 current. This effect is opposed to the loss-of-function effect of previously reported mutations in Andersen's syndrome. Kir2.1 V93I mutation may play a role in initiating and/or maintaining AF by increasing the activity of the inward rectifier K(+) channel.

AB - The inward rectifier K(+) channel Kir2.1 mediates the potassium I(K1) current in the heart. It is encoded by KCNJ2 gene that has been linked to Andersen's syndrome. Recently, strong evidences showed that Kir2.1 channels were associated with mouse atrial fibrillation (AF), therefore we hypothesized that KCNJ2 was associated with familial AF. Thirty Chinese AF kindreds were evaluated for mutations in KCNJ2 gene. A valine-to-isoleucine mutation at position 93 (V93I) of Kir2.1 was found in all affected members in one kindred. This valine and its flanking sequence is highly conserved in Kir2.1 proteins among different species. Functional analysis of the V93I mutant demonstrated a gain-of-function consequence on the Kir2.1 current. This effect is opposed to the loss-of-function effect of previously reported mutations in Andersen's syndrome. Kir2.1 V93I mutation may play a role in initiating and/or maintaining AF by increasing the activity of the inward rectifier K(+) channel.

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Amino Acid Sequence

KW - Animals

KW - Atrial Fibrillation

KW - COS Cells

KW - Cell Line

KW - Conserved Sequence

KW - DNA

KW - DNA Mutational Analysis

KW - Electrophysiology

KW - Family Health

KW - Female

KW - Heart Atria

KW - Humans

KW - Isoleucine

KW - Male

KW - Microscopy, Confocal

KW - Middle Aged

KW - Models, Molecular

KW - Molecular Sequence Data

KW - Mutagenesis, Site-Directed

KW - Mutation

KW - Potassium Channels, Inwardly Rectifying

KW - Protein Conformation

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Sequence Analysis, DNA

KW - Transfection

KW - Valine

U2 - 10.1016/j.bbrc.2005.05.054

DO - 10.1016/j.bbrc.2005.05.054

M3 - Journal article

C2 - 15922306

VL - 332

SP - 1012

EP - 1019

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 0006-291X

IS - 4

ER -

ID: 38440003