Single nucleotide polymorphism

Single nucleotide polymorphisms of Δ6-desaturase and Elovl5 segments and their associations with common carp (Cyprinus carpio) growth traits

H. .Ren, Yu, J., Xu, P., and Tang, Y., Single nucleotide polymorphisms of Δ6-desaturase and Elovl5 segments and their associations with common carp (Cyprinus carpio) growth traits, vol. 14, pp. 12848-12854, 2015.

Highly unsaturated fatty acids (HUFAs) are crucial for the nutritional health, physiology, and reproduction of vertebrates. The Δ6-desaturase and Elovl5 elongase genes produce essential enzymes in the biosynthetic pathway of HUFAs. Single nucleotide polymorphism (SNP) analysis of genes functionally related to the growth traits of the common carp (Cyprinus carpio var. Jian) can provide useful information for common carp molecular breeding. In this study, we isolated two Δ6 Fad genes and two Elovl5 genes from the common carp.

Association of CRTC2 gene polymorphisms with growth and meat quality traits of Qinchuan cattle

H. C. Xu, Gui, L. S., Song, N., Zhang, Y. Y., .C.Wang, H., and Zan, L. S., Association of CRTC2 gene polymorphisms with growth and meat quality traits of Qinchuan cattle, vol. 14, pp. 12912-12920, 2015.

Growth and meat quality traits play important roles in the evaluation of cattle productivity and are influenced by genetic and environmental factors. CRTC2 is a recently discovered gene related to obesity that may influence fat deposition. The aim of the current study was to detect polymorphisms of bovine CRTC2 and explore their relationships to growth and meat quality in Qinchuan cattle. Three single nucleotide polymorphisms (SNPs); g.3001 C>T; g.3034 G>A; and g.3467 T>C, were identified from sequencing results of 422 Qinchuan cattle.

Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population

D. D. Zhang, He, F., Liu, H. T., Hao, F., and Zhu, J., Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population, vol. 14, pp. 14162-14168, 2015.

The function of rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE) in some autoimmune diseases, including rheumatoid arthritis (RA), is ambiguous. We determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population.DNA was prepared from the venous leukocytes of 444 RA patients and 647 normal controls. The coding regions and adjacent intron sequences of SIAE were amplified by polymerase chain reaction. The products were then subjected to sequencing analysis.

G-395A polymorphism in the promoter region of the KLOTHO gene and hypertension among elderly (90 years and older) Chinese individuals

L. L. Gao, Ding, X., Xie, D. M., Yang, M., and Dong, B. R., G-395A polymorphism in the promoter region of the KLOTHO gene and hypertension among elderly (90 years and older) Chinese individuals, vol. 14, pp. 15444-15452, 2015.

The aim of this study was to examine the possible associations between the KLOTHO G-395A gene polymorphism and hypertension in Chinese nonagenarians and centenarians. The G-395A (rs1207568) in the promoter region of the KLOTHO gene was genotyped using a standard TaqMan allelic discrimination assay. We included 710 participants aged 93.5 ± 3.2 years in the analyses. The expression of the A allele of the KLOTHO G-395A polymorphism was significantly downregulated in the hypertension group compared to the control group (0.137 vs 0.200, P < 0.001).

Molecular characterization, tissue expression profile, and SNP analysis of porcine SLC13A5

L. Y. Wang, Jiang, J., and Ma, H. M., Molecular characterization, tissue expression profile, and SNP analysis of porcine SLC13A5, vol. 14, pp. 16090-16101, 2015.

Solute carrier family 13 (sodium-dependent citrate transporter member 5, SLC13A5) gene has been recently found to play an important role in intramuscular fat content in pigs. In this study, the full-length cDNA of porcine SLC13A5 was obtained from the longissimus dorsi muscle of Shaziling pigs, using the rapid amplification of cDNA ends technique. Full-length porcine SLC13A5 cDNA was 2118 bp, with a 1665-bp open reading frame encoding 554 amino acids.

Correlations between the COMT gene rs4680 polymorphism and susceptibility to ovarian cancer

W. Pan and Liao, H., Correlations between the COMT gene rs4680 polymorphism and susceptibility to ovarian cancer, vol. 14, pp. 16813-16818, 2015.

The objective of this study was to perform a systematic review of the correlations between the single nucleotide polymorphism rs4680 in the catechol-O-methyltransferase (COMT) gene and susceptibility to ovarian cancer. A computer search was carried out for relevant case-control studies published between January 2000 to January 2014 in databases such as Ovid, EBSCO, PubMed, CNKI, CBMDISC, VIP, and WanFang Data. The literature was screened based on inclusion and exclusion criteria.

Candidate genes for carcass traits in a tropical-adapted Brazilian composite beef breed

G. Veneroni-Gouveia, Tizioto, P. C., Meirelles, S. L. C., Santiago, A. C., Alencar, M. M., and Regitano, L. C. A., Candidate genes for carcass traits in a tropical-adapted Brazilian composite beef breed, vol. 14, pp. 16667-16674, 2015.

Backfat thickness (BFT) and ribeye area (REA) are important production traits but, because they are measured late in the animal’s life, they have not been efficiently included in breeding programs. The aim of this study was to evaluate whether single nucleotide polymorphisms (SNPs) mapped to the leptin, PPARGC1A, PSMC1, CRH, and FABP4 genes, which influence BFT and REA in Canchim cattle, a composite beef breed (5/8 Charolais + 3/8 Zebu). BFT and REA phenotypic records were obtained by ultrasound measurements from 18-month-old animals.

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

H. R. Dong, Li, H. S., Wang, S. C., Balin, Q. M., and Chang, P. Y., Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han, vol. 14, pp. 17567-17573, 2015.

Systemic lupus erythematosus (SLE) is an autoimmune disease that results in chronic inflammation of different organ systems. Several susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes has yet to be determined. The programmed cell death 1 gene (PDCD1), the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, and the methyl-CpG-binding protein 2 gene (MECP2) are considered to be the candidate genes associated with SLE.

De novo assembly, functional annotation, and marker development of Asian pear (Pyrus pyrifolia) fruit transcriptome through massively parallel sequencing

J. F. Li, Gao, Z., Lou, Y. S., Luo, M., Song, S. R., Xu, W. P., Wang, S. P., and Zhang, C. X., De novo assembly, functional annotation, and marker development of Asian pear (Pyrus pyrifolia) fruit transcriptome through massively parallel sequencing, vol. 14, pp. 18344-18355, 2015.

This study investigated the Asian pear transcriptome using the RNA-Seq normalized fruit cDNA library to create a transcriptomic resource for unigene and marker discovery. Following the removal of lowquality reads, 127,085,054 trimmed reads were assembled de novo to yield 37,649 non-redundant unigenes with an average length of 599 bp. Alternative splicing events were detected in 4121 contigs. A total of 30,560 single nucleotide polymorphisms (SNPs) and 7443 simple sequence repeat (SSR) makers were obtained.

Association between TAP1 gene polymorphisms and alopecia areata in a Korean population

H. K. Kim, Lee, H., Lew, B. L., Sim, W. Y., Kim, Y. O., Lee, S. W., Lee, S., Cho, I. K., Kwon, J. T., and Kim, H. J., Association between TAP1 gene polymorphisms and alopecia areata in a Korean population, vol. 14, pp. 18820-18827, 2015.

The transporter 1 ATP-binding cassette sub-family B (MDR/TAP) gene (TAP1) is located in the major histocompatibility complex class II region, and forms a heterodimer that plays a key role in endogenous antigen presentation pathways. Investigation of polymorphisms identified in these loci has revealed an association with several autoimmune disorders. Alopecia areata (AA) is a common autoimmune disease resulting from T cell-induced damage to hair follicles.

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