CLC number: R746.4
On-line Access: 2024-08-27
Received: 2023-10-17
Revision Accepted: 2024-05-08
Crosschecked: 2015-12-16
Cited: 1
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Yan-yan Cao, Yu-jin Qu, Sheng-xi He, Yan Li, Jin-li Bai, Yu-wei Jin, Hong Wang, Fang Song. Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy[J]. Journal of Zhejiang University Science B, 2016, 17(1): 76-82.
@article{title="Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy",
author="Yan-yan Cao, Yu-jin Qu, Sheng-xi He, Yan Li, Jin-li Bai, Yu-wei Jin, Hong Wang, Fang Song",
journal="Journal of Zhejiang University Science B",
volume="17",
number="1",
pages="76-82",
year="2016",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1500072"
}
%0 Journal Article
%T Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy
%A Yan-yan Cao
%A Yu-jin Qu
%A Sheng-xi He
%A Yan Li
%A Jin-li Bai
%A Yu-wei Jin
%A Hong Wang
%A Fang Song
%J Journal of Zhejiang University SCIENCE B
%V 17
%N 1
%P 76-82
%@ 1673-1581
%D 2016
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1500072
TY - JOUR
T1 - Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy
A1 - Yan-yan Cao
A1 - Yu-jin Qu
A1 - Sheng-xi He
A1 - Yan Li
A1 - Jin-li Bai
A1 - Yu-wei Jin
A1 - Hong Wang
A1 - Fang Song
J0 - Journal of Zhejiang University Science B
VL - 17
IS - 1
SP - 76
EP - 82
%@ 1673-1581
Y1 - 2016
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1500072
Abstract: The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease. A genetically similar gene, SMN2, which is not functionally equivalent in all SMA patients, modifies the clinical SMA phenotypes. We analyzed the methylation levels of 4 cpG islands (CGIs) in SMN2 in 35 Chinese children with SMA by MassARRAY. We found that three CpG units located in CGI 1 (nucleotides (nt) ?871, ?735) and CGI 4 (nt +999) are significantly hypomethylated in SMA type III compared with type I or II children after receiving Bonferroni correction. In addition to the differentially methylated CpG unit of nt ?871, the methylation level of the nt ?290/?288/?285 unit was negatively correlated with the expression of SMN2 full-length transcripts (SMN2-fl). In addition, the methylation level at nt +938 was inversely proportional to the ratio of SMN2-fl and lacking exon 7 transcripts (SMN2-(7, fl/(7), and was not associated with the SMN2 transcript levels. Thus, we can conclude that SMN2 methylation may regulate the SMA disease phenotype by modulating its transcription.
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[16]List of electronic supplementary materials
[17]Table S1 Primers for SMN2 CGIs cloning sequencing
[18]Table S2 Primers for SMN2 CGIs nested PCR
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