scholarly journals An eutherian intronic sequence gave rise to a major satellite DNA in Platyrrhini

2018 ◽  
Vol 14 (1) ◽  
pp. 20170686 ◽  
Author(s):  
Mirela Pelizaro Valeri ◽  
Guilherme Borges Dias ◽  
Valéria do Socorro Pereira ◽  
Gustavo Campos Silva Kuhn ◽  
Marta Svartman

Satellite DNAs (satDNAs) are major components of eukaryote genomes. However, because of their quick divergence, the evolutionary origin of a given satDNA family can rarely be determined. Herein we took advantage of available primate sequenced genomes to determine the origin of the CapA satDNA (approx. 1500 bp long monomers), first described in the tufted capuchin monkey Sapajus apella . We show that CapA is an abundant satDNA in Platyrrhini, whereas in the genomes of most eutherian mammals, including humans, this sequence is present only as a single copy located within a large intron of the NOS1AP ( nitric oxide synthase 1 adaptor protein ) gene. Our data suggest that this intronic CapA-like sequence gave rise to the CapA satDNA and we discuss possible mechanisms implicated in this event. This is the first report to our knowledge of a single copy intronic sequence giving origin to a satDNA that reaches up to 100 000 copies in some genomes.

2017 ◽  
Author(s):  
Mirela Pelizaro Valeri ◽  
Guilherme Borges Dias ◽  
Valéria do Socorro Pereira ◽  
Gustavo Campos Silva Kuhn ◽  
Marta Svartman

AbstractSatellite DNAs (satDNAs) are major components of eukaryote genomes. However, because of their quick divergence, the evolutionary origin of a given satDNA family can rarely be determined. Herein we took advantage of available primate sequenced genomes to determine the origin of the CapA satDNA (~1,500 bp long monomers), first described in Sapajus apella. We show that CapA is an abundant satDNA in Platyrrhini, whereas in the genomes of most eutherian mammals, including humans, this sequence is present only as a single copy located within a large intron of the NOS1AP (nitric oxid synthase 1 adaptor protein) Gene. Our data suggest that this intronic CapA-like sequence gave rise to the CapA satDNA and we discuss possible mechanisms implicated in this event. This is the first report of a single copy intronic sequence giving origin to a satDNA that reaches up to 100,000 copies in some genomes.


2020 ◽  
Author(s):  
Xiaobiao Zang ◽  
Zhang Shulong ◽  
Sisi Li ◽  
Xianqing Wang ◽  
Weifeng Song ◽  
...  

Abstract Background Contemporary researchers found single nucleotide polymorphisms (SNPs) in nitric oxide synthase 1 adaptor protein (NOS1AP) gene are associated with altered QT intervals and SCD. However, the clinical utility and implications of these SNP have not been described. This study aims to explore the clinical utility and implications of SNPs in nitric oxide synthase 1 adaptor protein (NOS1AP) in patients with implantable cardioverter defibrillator (ICD) for secondary prevention. Methods We firstly conducted a case-control study to evaluate the associations between hot-spot SNPs in NOS1AP (rs12143842, rs10494366, rs12567209 and rs16847548) and patients with ICD for secondary prevention. Then the clinical values of the positive SNPs were further evaluated in these patients. All patients were divided into three groups according to different genotypes of the positive SNPs. ICD interrogation data at 3, 12 months, and 3 years after implantation, which include rapid ventricular arrhythmia episodes and appropriate therapies, were analyzed in three genotypes. Results Case-control study revealed significant allelic association between rs10494366 and ICD recipients who experienced appropriate therapies. After a mean follow-up time of 31.70 ± 9.15 months, we detected not only significant difference among three genotypes on the distribution of ICD shocks and appropriate therapies, but apparently also the correlation of rs10494366 and ICD shocks. Furthermore, under kaplan-meier and cox regression analysis, TT genotype both showed higher risk for sudden cardiac death (SCD) compared with GG genotype. Conclusions The present study revealed that SNP rs10494366 was associated with appropriate therapies and SCD in patients with ICD for secondary prevention for the first time.


2015 ◽  
Vol 77 (11) ◽  
pp. 969-978 ◽  
Author(s):  
Damien Carrel ◽  
Kristina Hernandez ◽  
Munjin Kwon ◽  
Christine Mau ◽  
Meera P. Trivedi ◽  
...  

Nitric Oxide ◽  
2009 ◽  
Vol 21 (3-4) ◽  
pp. 226-233 ◽  
Author(s):  
Farideh Beigi ◽  
Behzad N. Oskouei ◽  
Meizi Zheng ◽  
Carol A. Cooke ◽  
Guillaume Lamirault ◽  
...  

2011 ◽  
Vol 16 (3) ◽  
pp. 72-76 ◽  
Author(s):  
Maciej Zukowski ◽  
Katarzyna Kotfis ◽  
Jowita Biernawska ◽  
Malgorzata Zegan-Baranska ◽  
Wojciech Blaszczyk ◽  
...  

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