PCK1 is negatively regulated by bta-miR-26a, and a single-nucleotide polymorphism in the 3′ untranslated region is involved in semen quality and longevity of Holstein bulls

2016 ◽  
Vol 83 (3) ◽  
pp. 217-225 ◽  
Author(s):  
Jinming Huang ◽  
Fang Guo ◽  
Zebin Zhang ◽  
Yuanpei Zhang ◽  
Xiuge Wang ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Untranslated Region ◽  
Semen Quality ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Holstein Bulls

Splicing-related single nucleotide polymorphism of RAB, member of RAS oncogene family like 2B (RABL2B) jeopardises semen quality in Chinese Holstein bulls

2017 ◽  
Vol 29 (12) ◽  
pp. 2411 ◽  
Author(s):  
Xiuge Wang ◽  
Xiaohui Cui ◽  
Yan Zhang ◽  
Haisheng Hao ◽  
Zhihua Ju ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Splice Variant ◽  
Semen Quality ◽  
Intraflagellar Transport ◽  
Ras Oncogene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Chinese Holstein ◽  
Holstein Bulls

RAB, member of RAS oncogene family like 2B (RABL2B) is a member of a poorly characterised clade of the RAS GTPase superfamily, which plays an essential role in male fertility, sperm intraflagellar transport and tail assembly. In the present study, we identified a novel RABL2B splice variant in bovine testis and spermatozoa. This splice variant, designated RABL2B-TV, is characterised by exon 2 skipping. Moreover, a single nucleotide polymorphism (SNP), namely c.125G>A, was found within the exonic splicing enhancer (ESE) motif, indicating that the SNP caused the production of the RABL2B-TV aberrant splice variant. This was demonstrated by constructing a pSPL3 exon capturing vector with different genotypes and transfecting these vectors into murine Leydig tumour cell line (MLTC-1) cells. Expression of the RABL2B-TV transcript was lower in semen from high- versus low-performance bulls. Association analysis showed that sperm deformity rate was significantly lower in Chinese Holstein bulls with the GG or GA genotype than in bulls with the AA genotype (P < 0.05). In addition, initial sperm motility was significantly higher in individuals with the GG or GA genotype than in individuals with the AA genotype (P < 0.05). The findings of the present study suggest that the difference in semen quality in bulls with different RABL2B genotypes is generated via an alternative splicing mechanism caused by a functional SNP within the ESE motif.

Single nucleotide polymorphism in prohibitin 3′untranslated region and breast-cancer susceptibility

The Lancet ◽  
2001 ◽  
Vol 357 (9268) ◽  
pp. 1588-1589 ◽  
Author(s):  
Eldon R Jupe ◽  
Allen A Badgett ◽  
Barbara R Neas ◽  
Melissa A Craft ◽  
Debra S Mitchell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Untranslated Region ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals A Single Nucleotide Polymorphism in Osteonectin 3′ Untranslated Region Regulates Bone Volume and Is Targeted by miR-433

2015 ◽  
Vol 30 (4) ◽  
pp. 723-732 ◽  
Author(s):  
Neha S Dole ◽  
Kristina Kapinas ◽  
Catherine B Kessler ◽  
Siu-Pok Yee ◽  
Douglas J Adams ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Untranslated Region ◽  
Bone Volume ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide
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