scholarly journals ATP2A2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Atp2a2 Gene

Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene

2018 ◽  
Vol 44 (2) ◽  
pp. e10-e12
Author(s):  
S. Yasuno ◽  
Y. Miyoshi ◽  
N. Asano ◽  
T. Okita ◽  
M. Yamaguchi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Sporadic Case ◽  
Site Mutation ◽  
Darier Disease ◽  
Atp2a2 Gene

scholarly journals Effects of genetic variation in the 20th intron of Sansui duck ATP2A2 gene on eggshell quality

2021 ◽  
Vol 3 (2) ◽  
Author(s):  
Junhan Mei ◽  
Yiyu Zhang ◽  
Minfang You ◽  
Chaomei Liao ◽  
Guanghui Tan ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Strong Linkage Disequilibrium ◽  
Strong Linkage ◽  
Weinberg Equilibrium ◽  
Atp2a2 Gene ◽  
Eggshell Quality ◽  
Hardy Weinberg Equilibrium ◽  
Intron Region ◽  
The Relationship

In order to explore the influence of the polymorphism in the 20 intron region of the Sansui duck ATP2A2 gene on the eggshell quality, this study used Primer Premier 5 software to design and synthesize a pair of primers in the 20 intron region, two-way direct sequencing and sequence alignment to mine SNPs Sites, SPSS 18.0 software was used to analyze the relationship between SNP sites and eggshell quality of Sansui duck. Results Three SNP sites were found in the 20 intron region of the ATP2A2 gene: g.40874 T>C, g.40920 G>A and g.40990 T=C, all of which were moderately polymorphic, at the site g.40874 T ＞C and g.40920 G＞A both deviated significantly from Hardy-Weinberg equilibrium (P>0.05), position g.40990 T=C accords with Hardy-Weinberg equilibrium (P<0.05), and position g.40874 T＞C There is a strong linkage disequilibrium between g.40990 T=C; a total of 4 haplotypes and 9 double types were detected at 3 SNP loci; the results of association analysis show that g.40874 T＞C mutation has an effect on eggshell strength The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes (P<0.05), and the eggshell weight of CC genotype was significantly higher than that of TC genotype (P<0.05), g. The 40990 T=C mutation has a significant effect on the eggshell strength, and the eggshell strength of the TC genotype is significantly higher than that of the TT genotype (P<0.05). In summary, the g.40874 T>C and g.40990 T=C found in the 20th intron region of the Sansui duck ATP2A2 gene may be the marker sites that affect the quality of the eggshell.

scholarly journals ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 481 ◽  
Author(s):  
Monika Linek ◽  
Maren Doelle ◽  
Tosso Leeb ◽  
Anina Bauer ◽  
Fabienne Leuthard ◽  
...  
Keyword(s):  
Allelic Imbalance ◽  
Cyst Formation ◽  
Presumptive Diagnosis ◽  
Nonsense Mediated Decay ◽  
Darier Disease ◽  
Atp2a2 Gene ◽  
Sine Insertion ◽  
The Right ◽  
Excised Tissue ◽  
Suprabasal Keratinocytes

A 4-month-old female Irish Terrier presented with a well demarcated ulcerative and crusting lesion in the right ear canal. Histological analysis revealed epidermal hyperplasia with severe acantholysis affecting all suprabasal layers of the epidermis, which prompted a presumptive diagnosis of canine Darier disease. The lesion was successfully treated by repeated laser ablation of the affected epidermis. Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications. Histology of the excised tissue revealed multiple infundibular cysts extending from the upper dermis to the subcutis. The cysts were lined by squamous epithelium, which presented with abundant acantholysis of suprabasal keratinocytes. Infundibular cysts represent a novel finding not previously reported in Darier patients. Whole genome sequencing of the affected dog was performed, and the functional candidate genes for Darier disease (ATP2A2) and Hailey-Hailey disease (ATP2C1) were investigated. The analysis revealed a heterozygous SINE insertion into the ATP2A2 gene, at the end of intron 14, close to the boundary of exon 15. Analysis of the ATP2A2 mRNA from skin of the affected dog demonstrated a splicing defect and marked allelic imbalance, suggesting nonsense-mediated decay of the resulting aberrant transcripts. As Darier disease in humans is caused by haploinsufficiency of ATP2A2, our genetic findings are in agreement with the clinical and histopathological data and support the diagnosis of canine Darier disease.

Five mutations of ATP2A2 gene in Chinese patients with Darier’s disease and a literature review of 86 cases reported in China

2006 ◽  
Vol 298 (2) ◽  
pp. 58-63 ◽  
Author(s):  
Yun-Qing Ren ◽  
Min Gao ◽  
Yan-Hua Liang ◽  
Yan-Xia Hou ◽  
Pei-Guang Wang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Patients ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Atp2a2 Gene

scholarly journals Novel Point Mutations of the ATP2A2 Gene in Two Chinese Families with Darier Disease

2001 ◽  
Vol 116 (3) ◽  
pp. 482-483 ◽  
Author(s):  
Yong Yang ◽  
Guanqun Li ◽  
Dingfang Bu ◽  
Xuejun Zhu
Keyword(s):  
Point Mutations ◽  
Chinese Families ◽  
Darier Disease ◽  
Atp2a2 Gene

The association of the expression of calcium handling proteins and their polymorphic variants of genes with the structural and functional state of the heart of patients with atrial fibrillation

EP Europace ◽  
2021 ◽  
Vol 23 (Supplement_3) ◽  
Author(s):  
D Kondrat"eva ◽  
SA Afanasiev ◽  
EF Muslimova ◽  
EA Archakov ◽  
RE Batalov
Keyword(s):  
Atrial Fibrillation ◽  
Sarcoplasmic Reticulum ◽  
Functional State ◽  
Intracellular Transport ◽  
Public Institution ◽  
Expression Level ◽  
Calcium Handling ◽  
Atp2a2 Gene ◽  
Polymorphic Variants ◽  
Calcium Handling Proteins

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): The Russian Science Foundation, the Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences. Background. The cellular mechanisms of the genesis of atrial fibrillation are associated with impaired intracellular transport of calcium ions, which is determined by the activity of calcium-transporting proteins of the sarcoplasmic reticulum (SR). The aim of the study to investigate the expression of calcium handling proteins of the sarcoplasmic reticulum and their polymorphic variants of genes with the structural and functional state of the heart of patients with permanent atrial fibrillation. Methods. The study included 45 patients aged 29 to 65 years with atrial fibrillation. A complete echocardiographic study was performed according to standard views (parasternal and apical views) by an En Visor CHD Philips sonograph (Netherlands). All patients underwent catheter ablation, during which a biopsy of myocardial tissue from the top of the left ventricle (1-3 mg) was taken. The protein content of SERCA2a and calsequestrin (CASQ2) was determined by immunoblotting in patient’s myocardium. We identified polymorphic variants rs1860561 of the SERCA2a and rs6684209 and rs7521023 of the CASQ2 gene by real-time polymerase chain reaction. Results. The expression of both SERCA2a and CASQ2 proteins correlated with the size of the left atrium (LA). Thus, a higher level of SERCA2a expression in the myocardium corresponded to a larger LA size in patients. Despite the fact that the LV ejection fraction did not correlate with the expression level of the studied proteins, a direct correlation was found between the SERCA2a level and the values of LV end-diastolic and systolic volumes. In addition, the hemodynamic parameters of the heart, characterizing the diastolic function of the heart of patients, such as the rates of early (peak E) and late diastolic filling (peak A) LV were lower in patients with a higher SERCA2a level, although the ratio of these parameters (peak E/peak A) had no significant differences. In the homozygous GG genotype of the ATP2A2 gene, the expression level of the SERCA2a protein was (p = 0.039) higher than in patients with the heterozygous genotype (GA). Analysis of the parameters of the ECHO-KG study showed that the presence of the A allele of the rs1860561 variant of the ATP2A2 gene is associated with an increase in the LV sphericity index. The expression of the CASQ2 protein in patients with CC genotype of the rs6684209 variant of the CASQ2 gene was 2.5 times higher than in patients with CT genotype. The genotypes of the rs7521023 variant of the CASQ2 gene were not associated with the level of expression of the corresponding protein in the myocardium of the studied patients. Conclusions. The different genotypes of the rs1860561 variant of the ATP2A2 gene and rs6684209 of the CASQ2 gene can modulate the expression level of the SERCA2a protein and the CASQ2 protein. Moreover, the expression of calcium handling proteins to a greater extent affects the functional and structural characteristics of the heart of patients with permanent AF.

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