GNE myopathy in Chinese population: hotspot and novel mutations

Chen, Yang; Xi, Jianying; Zhu, Wenhua; Lin, Jie; Luo, Sushan; Yue, Dongyue; Cai, Shuang; Sun, Chong; Zhao, Chongbo; Mitsuhashi, Satomi; Nishino, Ichizo; Xu, Minjie; Lu, Jiahong

doi:10.1038/s10038-018-0525-9

Cited by 19 publications

(25 citation statements)

References 26 publications

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“…The SNP in the KCNJ12 gene has abundant genetic diversity, which may be essential for production improvement. Recently, a considerable body of literature has grown up around the theme that missense mutations can influence gene expression [19] and protein function [20,21]. The SNP in KCNJ12 is a missense mutation located in exon 3 of the bovine KCNJ12 gene, and may affect translation efficiency, thereby altering the function of the KCNJ12 protein.…”

Section: Discussionmentioning

confidence: 99%

Differential Expression of KCNJ12 Gene and Association Analysis of Its Missense Mutation with Growth Traits in Chinese Cattle

Cheng

Peng

Cao

et al. 2019

Animals

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The potassium inwardly rectifying channel, subfamily J, member 12 (KCNJ12) gene is a promising candidate for economic traits because of its crucial roles in myoblast development. Here, a missense mutation (Cys > Arg) was first detected to be located in exon 3 of KCNJ12 from three Chinese cattle breeds by DNA-pool sequencing. Then, we performed an association analysis of this single-nucleotide polymorphism (SNP) with stature in three Chinese cattle populations (n = 820). A significantly positive correlation was revealed by a reduced animal general linear model and the CC genotype was the most favorable in three breeds. Further, we measured the expression profile of the KCNJ12 gene in various cattle tissues and primary bovine skeletal muscle cells. Ubiquitous expression with high abundance in muscle was observed. Further, in primary bovine skeletal muscle cells, the KCNJ12 mRNA expression was gradually up-regulated in differentiation medium (DM) compared with that in growth medium (GM), suggesting that the KCNJ12 gene is involved in bovine myocyte differentiation. Conclusively, the KCNJ12 gene is a functional candidate gene which can be used as a molecular marker for cattle breeding.

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Section: Discussionmentioning

confidence: 99%

Differential Expression of KCNJ12 Gene and Association Analysis of Its Missense Mutation with Growth Traits in Chinese Cattle

Cheng

Peng

Cao

et al. 2019

Animals

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show abstract

“…Recently, a considerable literature has grown up around the theme that missense mutations can influence the expression of gene [17] and the protein function [18,19]. The SNP in KCNJ12 is a The mRNA level which occurs after transcription and before translation indicates the relationship between DNA and protein, so measurement of mRNA levels is typically performed to investigate the role of target genes [15].…”

Section: Discussionmentioning

confidence: 99%

A Missense Mutation in <em>KCNJ12</em> Was Strongly Associated with Beef Cattle Stature

Cheng¹,

Peng²,

Cao³

et al. 2019

Preprint

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Potassium inwardly-rectifying channel, subfamily J, member 12 (KCNJ12) gene is one promising candidate for economic traits because of its crucial roles in myoblast development. Here, a missense mutation (Cys>Arg), was firstly detected to locate in exon 3 of KCNJ12 from three Chinese cattle breeds by DNA-pool sequencing. Then, we performed the association analysis of this SNP with stature in three Chinese cattle populations (n = 820). Significantly positive correlation was revealed by reduced animal general linear model and the genotype of CC is the most excellent genotype in three breeds. Further, we measured the expression profiling of the KCNJ12 gene in various cattle tissues and primary bovine skeletal muscle cells. Ubiquitous expression with high abundance in muscle was observed. Further, in primary bovine skeletal muscle cells, the KCNJ12 mRNA expression was gradually up-regulated in differentiation medium (DM) compared with that in growth medium (GM), suggesting that KCNJ12 gene is involved in bovine myocyte differentiation. Conclusively, KCNJ12 gene is a functional candidate gene which can be used as molecular marker for beef cattle breeding.

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“… 6 Different GNE mutations have been detected worldwide, and they present with different prevalences in populations of diverse ethnicities, such as c.2228T>C (p.M743T) in the Middle East, c.1807G>C (p.V603L) and c.620A>T (p.D207V) in Japan and c.2179G>A (p.V727 M) in South‐East Asia. 7 , 8 Meanwhile, patients with different GNE variants experience varying ages of onset and other clinical features, suggesting that different variants have different functional impacts.…”

Section: Introductionmentioning

confidence: 99%

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Zhang

Duan

et al. 2021

J Cellular Molecular Medi

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GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder. Although GNE, which is the mutated gene responsible for the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the clinicopathological-genetic spectrum of GNE mutant patients is still unclear and expanding. This study presents ten unrelated patients with GNE myopathy, discovering five novel missense mutations. Clinical, electrophysiological, imaging, pathological and genetic data are presented in a retrospective manner. Interestingly, several patients in the cohort were found to have peripheral neuropathy and inflammatory cell infiltration in muscle biopsies, which have seldom been reported. This study, conducted by a neuromuscular centre in China, is the first attempt to highlight these abnormal clinicopathological features and associate them with genetic mutations in GNE myopathy.

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GNE myopathy in Chinese population: hotspot and novel mutations

Cited by 19 publications

References 26 publications

Differential Expression of KCNJ12 Gene and Association Analysis of Its Missense Mutation with Growth Traits in Chinese Cattle

Differential Expression of KCNJ12 Gene and Association Analysis of Its Missense Mutation with Growth Traits in Chinese Cattle

A Missense Mutation in <em>KCNJ12</em> Was Strongly Associated with Beef Cattle Stature

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

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