Document Detail

Whole genome survey of copy number variation in the spontaneously hypertensive rat: relationship to quantitative trait loci, gene expression, and blood pressure.
MedLine Citation:
PMID:  20231529     Owner:  NLM     Status:  MEDLINE    
Copy number variation has emerged recently as an important genetic mechanism leading to phenotypic heterogeneity. The aim of our study was to determine whether copy number variants (CNVs) exist between the spontaneously hypertensive rat (SHR) and its control strain, the Wistar-Kyoto rat, whether these map to quantitative trait loci in the rat and whether CNVs associate with gene expression or blood pressure differences between the 2 strains. We performed a comparative genomic hybridization assay between SHR and Wistar-Kyoto strains using a whole-genome array. In total, 16 CNVs were identified and validated (6 because of a relative loss of copy number in the SHR and 10 because of a relative gain). CNVs were present on rat autosomes 1, 3, 4, 6, 7, 10, 14, and 17 and varied in size from 10.0 kb to 1.6 Mb. Most of these CNVs mapped to chromosomal regions within previously identified quantitative trait loci, including those for blood pressure in the SHR. Transcriptomic experiments confirmed differences in the renal expression of several genes (including Ms4a6a, Ndrg3, Egln1, Cd36, Sema3a, Ugt2b, and Idi21) located in some of the CNVs between SHR and Wistar-Kyoto rats. In F(2) animals derived from an SHRxWistar-Kyoto cross, we also found a significant increase in blood pressure associated with an increase in copy number in the Egln1 gene. Our findings suggest that CNVs may play a role in the susceptibility to hypertension and related traits in the SHR.
Fadi J Charchar; Michael Kaiser; Andrew J Bingham; Nina Fotinatos; Fahima Ahmady; Maciej Tomaszewski; Nilesh J Samani
Related Documents :
19005899 - Effects of music composed by mozart and ligeti on blood pressure and heart rate circadi...
10411369 - Altered angiotensin ii-induced small artery contraction during the development of hyper...
4039679 - Influence of age on the carotid bodies of spontaneously hypertensive (shr) and normoten...
9095089 - Mechanical stress of the carotid artery at the early phase of spontaneous hypertension ...
6215829 - Left ventricular hypertrophy improves cardiac performance in spontaneously hypertensive...
8190809 - Circadian rhythms of blood pressure, heart rate, and locomotor activity in spontaneousl...
10993809 - Development of a multifrequency conductance catheter-based system to determine lv funct...
2121119 - Extracorporeal membrane oxygenation in the treatment of neonatal respiratory failure.
20346089 - Lack of effect of short-term treatment with amlodipine and lisinopril on retinal autore...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-03-15
Journal Detail:
Title:  Hypertension     Volume:  55     ISSN:  1524-4563     ISO Abbreviation:  Hypertension     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-04-15     Completed Date:  2010-05-28     Revised Date:  2010-05-31    
Medline Journal Info:
Nlm Unique ID:  7906255     Medline TA:  Hypertension     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1231-8     Citation Subset:  IM    
School of Science and Engineering, University of Ballarat, University Dr, Mt Helen, Ballarat, Australia 3350.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Blood Pressure / genetics*,  physiology
Chromosome Mapping / methods
DNA / genetics,  isolation & purification
Gene Expression*
Genetic Variation*
Genome-Wide Association Study / methods*
Kidney / physiopathology
Liver / physiopathology
Oligonucleotide Array Sequence Analysis / methods
Polymerase Chain Reaction / methods
Proteins / genetics
Quantitative Trait Loci / genetics*
Rats / genetics
Rats, Inbred SHR / genetics*
Grant Support
//British Heart Foundation; //Wellcome Trust
Reg. No./Substance:
0/Proteins; 0/eglin proteinase inhibitors; 9007-49-2/DNA
Erratum In:
Hypertension. 2010 Jun;55(6):e28

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Sex chromosome effects unmasked in angiotensin II-induced hypertension.
Next Document:  Targeting Lymphatic Vessel Activation and CCL21 Production by Vascular Endothelial Growth Factor Rec...