scholarly journals An Approach to Identify Single Nucleotide Polymorphisms in the Period Circadian Clock 3 (PER3) Gene and Proposed Functional Associations with Exercise Training in a Thoroughbred Horse

2015 ◽  
Vol 25 (11) ◽  
pp. 1304-1310
Author(s):  
Kyoung-Tag Do ◽  
Byung-Wook Cho
2010 ◽  
Vol 108 (6) ◽  
pp. 1487-1496 ◽  
Author(s):  
James A. Timmons ◽  
Steen Knudsen ◽  
Tuomo Rankinen ◽  
Lauren G. Koch ◽  
Mark Sarzynski ◽  
...  

A low maximal oxygen consumption (V̇o2max) is a strong risk factor for premature mortality. Supervised endurance exercise training increases V̇o2max with a very wide range of effectiveness in humans. Discovering the DNA variants that contribute to this heterogeneity typically requires substantial sample sizes. In the present study, we first use RNA expression profiling to produce a molecular classifier that predicts V̇o2max training response. We then hypothesized that the classifier genes would harbor DNA variants that contributed to the heterogeneous V̇o2max response. Two independent preintervention RNA expression data sets were generated ( n = 41 gene chips) from subjects that underwent supervised endurance training: one identified and the second blindly validated an RNA expression signature that predicted change in V̇o2max (“predictor” genes). The HERITAGE Family Study ( n = 473) was used for genotyping. We discovered a 29-RNA signature that predicted V̇o2max training response on a continuous scale; these genes contained ∼6 new single-nucleotide polymorphisms associated with gains in V̇o2max in the HERITAGE Family Study. Three of four novel candidate genes from the HERITAGE Family Study were confirmed as RNA predictor genes (i.e., “reciprocal” RNA validation of a quantitative trait locus genotype), enhancing the performance of the 29-RNA-based predictor. Notably, RNA abundance for the predictor genes was unchanged by exercise training, supporting the idea that expression was preset by genetic variation. Regression analysis yielded a model where 11 single-nucleotide polymorphisms explained 23% of the variance in gains in V̇o2max, corresponding to ∼50% of the estimated genetic variance for V̇o2max. In conclusion, combining RNA profiling with single-gene DNA marker association analysis yields a strongly validated molecular predictor with meaningful explanatory power. V̇o2max responses to endurance training can be predicted by measuring a ∼30-gene RNA expression signature in muscle prior to training. The general approach taken could accelerate the discovery of genetic biomarkers, sufficiently discrete for diagnostic purposes, for a range of physiological and pharmacological phenotypes in humans.


Genetika ◽  
2020 ◽  
Vol 52 (3) ◽  
pp. 1281-1290
Author(s):  
Zeshan Raza ◽  
Asif Nadeem ◽  
Maryam Javed ◽  
Faiz-Ul Hassan ◽  
Wasim Shehzad ◽  
...  

Myostatin is a protein translated by the the MSTN gene (also known as GDF8), is responsible for limiting muscle growth and strength. In thoroughbred horse (Equus Caballus), limited studies have been designed to examine the variants in the coding region of MSTN gene. However, no data is available regarding the single nucleotide polymorphisms (SNPs) of the MSTN about racing performance in thoroughbred horses of Pakistan. In this study blood samples of fifteen Pakistani thoroughbred horses were collected from Race Club Lahore and immediately transferred into the ice box. The DNA was extracted by using phenol-chloroform method. Primers were designed for the amplification of all exons of the MSTN gene. The amplified PCR products were precipitated and sequenced for the identification of SNPs. SNPs were identified by visualizing the peaks of sequenced data by using Chromas Software. Phylogenetic analysis of MSTN gene in Pak-thoroughbred with racing species and some breeds of horses like Marwari Indian breed, Sindhi breed, Kathlawari breed, Italian breed and Chines breed was done separately by using MEGA 6 software. The analysis of identified SNPs were carried out by software SNPator. The sequenced data with altered protein was published in GenBank with accession number MN604194. Results have shown a total of 3 single nucleotide polymorphisms through Blast with reference sequences. Two SNPs were found in exon 2 at position of 2406 (C/T) and 2408 (C/T) respectively. One SNP (T/C) was detected in exon 3 at the position of 4661. In conclusion, Pak-thoroughbred horse population has 3 polymorphisms in their coding region which can be used as a biological marker for athletic abilities in Pak- thoroughbred.


2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan

2007 ◽  
Vol 28 (3) ◽  
pp. 161-164 ◽  
Author(s):  
Rosalind Arden ◽  
Nicole Harlaar ◽  
Robert Plomin

Abstract. An association between intelligence at age 7 and a set of five single-nucleotide polymorphisms (SNPs) has been identified and replicated. We used this composite SNP set to investigate whether the associations differ between boys and girls for general cognitive ability at ages 2, 3, 4, 7, 9, and 10 years. In a longitudinal community sample of British twins aged 2-10 (n > 4,000 individuals), we found that the SNP set is more strongly associated with intelligence in males than in females at ages 7, 9, and 10 and the difference is significant at 10. If this finding replicates in other studies, these results will constitute the first evidence of the same autosomal genes acting differently on intelligence in the two sexes.


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